gnomAD

Names
More detailed information about this field from each metasource.

gnomAD
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:12.564649

gnomad
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:12.564649

Other names: gnomad

Genome Aggregation Database (gnomAD) - browser that aggregates exome and whole-genome sequencing data from a wide variety of large-scale sequencing projects. It enables search of genetic variation information by gene, variant or region.

Webpage:

http://gnomad.broadinstitute.org/

Licence:

Name: ODbL-1.0

Publications:

Publications
More detailed information about this field from each metasource.

Analysis of protein-coding genetic variation in 60,706 humans
PMID: 27535533
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:12.564649

Analysis of protein-coding genetic variation in 60,706 humans PubMed citations: 4595.

4595 articles citing: Analysis of protein-coding genetic variation in 60,706 humans

Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population. PMID:35361824
NeuroSCORE is a genome-wide omics-based model that identifies candidate disease genes of the central nervous system. PMID:35361823
Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion. PMID:35361255
Filamin A Is a Potential Driver of Breast Cancer Metastasis via Regulation of MMP-1. PMID:35359350
Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil. PMID:35353237
Alterations in synaptonemal complex coding genes and human infertility. PMID:35342360
Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity. PMID:35330733
Evolution of Protein Functional Annotation: Text Mining Study. PMID:35330478
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome. PMID:35330423
Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder. PMID:35327467
Automatic Recognition of Ragged Red Fibers in Muscle Biopsy from Patients with Mitochondrial Disorders. PMID:35327052
Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort. PMID:35325322
Reduced reproductive success is associated with selective constraint on human genes. PMID:35322230
Constrained human genes under scrutiny. PMID:35322215
Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency. PMID:35309119
The promises and perils of psychedelic pharmacology for psychiatry. PMID:35301459
HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus. PMID:35299962
Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics. PMID:35299955
Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes. PMID:35292633
Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain. PMID:35288716
Circulating Cell-Free DNA Reflects the Clonal Evolution of Breast Cancer Tumors. PMID:35267640
No preferential mode of inheritance for highly constrained genes. PMID:35261847
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects. PMID:35260199
Germline Mutations for Kidney Volume in ADPKD. PMID:35257066
Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases. PMID:35256540
Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes. PMID:35248088
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies. PMID:35246562
The implication of holocytochrome c synthase mutation in Korean familial hypoplastic amelogenesis imperfecta. PMID:35243551
Scalable Dual-Fluorescence Assay for Functional Interpretation of HNF-4α Missense Variants. PMID:35237236
Missense variants in human ACE2 strongly affect binding to SARS-CoV-2 Spike providing a mechanism for ACE2 mediated genetic risk in Covid-19: A case study in affinity predictions of interface variants. PMID:35235558
Fibrillar Collagen Variants in Spontaneous Coronary Artery Dissection. PMID:35234813
Computational Resources for the Interpretation of Variations in Cancer. PMID:35230689
Somatic and Germline Variant Calling from Next-Generation Sequencing Data. PMID:35230682
Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature. PMID:35228874
A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy. PMID:35222528
BEND4 as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of the Pons and Cerebellar Atrophy. PMID:35221871
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. PMID:35220969
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development. PMID:35218524
Characterizing mobile element insertions in 5675 genomes. PMID:35212372
Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis. PMID:35197475
Genomic variations and epigenomic landscape of the Medaka Inbred Kiyosu-Karlsruhe (MIKK) panel. PMID:35189951
The Medaka Inbred Kiyosu-Karlsruhe (MIKK) panel. PMID:35189950
Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation. PMID:35176222
Delineating the intra-patient heterogeneity of molecular alterations in treatment-naïve colorectal cancer with peritoneal carcinomatosis. PMID:35169225
Mice with a deficiency in Peroxisomal Membrane Protein 4 (PXMP4) display mild changes in hepatic lipid metabolism. PMID:35169201
Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer. PMID:35163215
Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer. PMID:35158942
HKG: an open genetic variant database of 205 Hong Kong cantonese exomes. PMID:35156024
Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation. PMID:35154276
Genome Nexus: A Comprehensive Resource for the Annotation and Interpretation of Genomic Variants in Cancer. PMID:35148171
Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene. PMID:35146449
Partitioning gene-mediated disease heritability without eQTLs. PMID:35143757
Transcriptomics and sequencing analysis of gene expression profiling for major depressive disorder. PMID:35136251
Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels. PMID:35132179
Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort. PMID:35128484
Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination. PMID:35122187
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene. PMID:35121750
The association between genomic variations and histological grade in hepatocellular carcinoma. PMID:35117602
Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines. PMID:35115730
Common disease-associated gene variants in a Saudi Arabian population. PMID:35112591
Analysis of autosomal dominant genes impacted by copy number loss in 24,844 fetuses without structural abnormalities. PMID:35109792
Leveraging gene co-regulation to identify gene sets enriched for disease heritability. PMID:35108496
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene. PMID:35107211
Genetic variants in eleven central and peripheral chemoreceptor genes in sudden infant death syndrome. PMID:35102300
Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population. PMID:35089958
Developmental disorders caused by haploinsufficiency of transcriptional regulators: a perspective based on cell fate determination. PMID:35089335
Redefining tissue specificity of genetic regulation of gene expression in the presence of allelic heterogeneity. PMID:35085493
Mutational landscape of primary and recurrent Ewing sarcoma. PMID:35079231
A genome-wide association study of serum proteins reveals shared loci with common diseases. PMID:35078996
Misaligned sequencing reads from the GNAQ-pseudogene locus may yield GNAQ artefact variants. PMID:35075133
Mitochondrial DNA variation across 56,434 individuals in gnomAD. PMID:35074858
The structural coverage of the human proteome before and after AlphaFold. PMID:35073311
Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0. PMID:35072799
Multi-ancestry eQTL meta-analysis of human brain identifies candidate causal variants for brain-related traits. PMID:35058635
Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes. PMID:35052457
Analysis of the Batch Effect Due to Sequencing Center in Population Statistics Quantifying Rare Events in the 1000 Genomes Project. PMID:35052384
Systematic analysis of naturally occurring insertions and deletions that alter transcription factor spacing identifies tolerant and sensitive transcription factor pairs. PMID:35049498
The QChip1 knowledgebase and microarray for precision medicine in Qatar. PMID:35046417
TP53_PROF: a machine learning model to predict impact of missense mutations in TP53. PMID:35043155
Identification of putative genetic variants in major depressive disorder patients in Pakistan. PMID:35040003
Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer. PMID:35039523
A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene. PMID:35036589
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants. PMID:35032432
De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease. PMID:35031571
The breast pre-cancer atlas illustrates the molecular and micro-environmental diversity of ductal carcinoma in situ. PMID:35027560
Cancer-Associated SF3B1 Mutations Confer a BRCA-Like Cellular Phenotype and Synthetic Lethality to PARP Inhibitors. PMID:35027467
The genetic architecture of pediatric cardiomyopathy. PMID:35026164
Efficacy of the Ketogenic Diet for Pediatric Epilepsy According to the Presence of Detectable Somatic mTOR Pathway Mutations in the Brain. PMID:35021279
Novel Variants in the FIG4 Gene Associated With Chinese Sporadic Amyotrophic Lateral Sclerosis With Slow Progression. PMID:35021275
De novo mutations identified by whole-genome sequencing implicate chromatin modifications in obsessive-compulsive disorder. PMID:35020433
A de novo paradigm for male infertility. PMID:35013161
Comprehensive Molecular Landscape of Cetuximab Resistance in Head and Neck Cancer Cell Lines. PMID:35011716
SMAD3 Host and Tumor Profiling to Identify Locally Advanced Rectal Cancer Patients at High Risk of Poor Response to Neoadjuvant Chemoradiotherapy. PMID:35002714
Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract. PMID:34979951
SOD2 V16A amplifies vascular dysfunction in sickle cell patients by curtailing mitochondria complex IV activity. PMID:34958669
Mutations in DISC1 alter IP3R and voltage-gated Ca2+ channel functioning, implications for major mental illness. PMID:34956649
Overcoming constraints on the detection of recessive selection in human genes from population frequency data. PMID:34951958
Novel In-Frame Deletion in HTRA1 Gene, Responsible for Stroke at a Young Age and Dementia-A Case Study. PMID:34946904
Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction. PMID:34946863
MutTMPredictor: Robust and accurate cascade XGBoost classifier for prediction of mutations in transmembrane proteins. PMID:34938415
Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty. PMID:34930920
De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation. PMID:34930847
Long-range promoter-enhancer contacts are conserved during evolution and contribute to gene expression robustness. PMID:34930799
Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease. PMID:34925849
De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy. PMID:34922620
The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan. PMID:34915860
Case Report: Exome Sequencing Identified Variants in Three Candidate Genes From Two Families With Hearing Loss, Onychodystrophy, and Epilepsy. PMID:34912366
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy. PMID:34909687
Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder. PMID:34908525
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. PMID:34906466
Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease. PMID:34906245
Airway Epithelial Innate Immunity. PMID:34899381
CMR Characteristics, gene variants and long-term outcome in patients with left ventricular non-compaction cardiomyopathy. PMID:34894296
Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease. PMID:34888534
Predicting deleterious missense genetic variants via integrative supervised nonnegative matrix tri-factorization. PMID:34887492
Integration of Mutational Signature Analysis with 3D Chromatin Data Unveils Differential AID-Related Mutagenesis in Indolent Lymphomas. PMID:34884820
The Roles of Luteinizing Hormone, Follicle-Stimulating Hormone and Testosterone in Spermatogenesis and Folliculogenesis Revisited. PMID:34884539
The good, the bad, and the ugly: Evolutionary and pathological aspects of gene dosage alterations. PMID:34882671
Retroperitoneal Paraganglioma With Asymptomatic Follicular Lymphoma: A Case Report. PMID:34877445
Whole-Exome Sequencing Reveals Recurrent but Heterogeneous Mutational Profiles in Sporadic WHO Grade 1 Meningiomas. PMID:34868937
Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice. PMID:34867808
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene. PMID:34861889
Novel insights into the BAP1-inactivated melanocytic tumor. PMID:34857909
Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases. PMID:34852802
Deletion of Loss-of-Function-Intolerant Genes and Risk of 5 Psychiatric Disorders. PMID:34851367
Decoding the effects of synonymous variants. PMID:34850938
Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India. PMID:34849271
Real-world data analysis of patients with cancer of unknown primary. PMID:34845302
Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder. PMID:34838103
Whole-genome analysis of Nigerian patients with breast cancer reveals ethnic-driven somatic evolution and distinct genomic subtypes. PMID:34836952
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model. PMID:34830235
Poking COVID-19: Insights on Genomic Constraints among Immune-Related Genes between Qatari and Italian Populations. PMID:34828448
The Impact of Rare Human Variants on Barrier-To-Auto-Integration Factor 1 (Banf1) Structure and Function. PMID:34820387
Clinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy. PMID:34819907
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation. PMID:34819141
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis. PMID:34815418
Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis. PMID:34815391
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms. PMID:34807224
Mutation saturation for fitness effects at human CpG sites. PMID:34806592
NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay. PMID:34805998
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells. PMID:34802461
Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms. PMID:34802252
[Expert Consensus on Tumor Mutational Burden for Immunotherapy in Lung Cancer]. PMID:34802204
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases. PMID:34795310
Inhibitor of growth protein 3 epigenetically silences endogenous retroviral elements and prevents innate immune activation. PMID:34791430
Variant Library Annotation Tool (VaLiAnT): an oligonucleotide library design and annotation tool for Saturation Genome Editing and other Deep Mutational Scanning experiments. PMID:34791067
A selection pressure landscape for 870 human polygenic traits. PMID:34782732
Short NK- and Naïve T-Cell Telomere Length Is Associated with Thyroid Cancer in Childhood Cancer Survivors: A Report from the Childhood Cancer Survivor Study. PMID:34782395
Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7. PMID:34780050
MicroRNA Variants and HLA-miRNA Interactions are Novel Rheumatoid Arthritis Susceptibility Factors. PMID:34777472
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder. PMID:34764295
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants. PMID:34762822
Polyneuropathy monitoring in Parkinson's disease patients treated with levodopa/carbidopa intestinal gel. PMID:34758207
Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine. PMID:34749812
An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients. PMID:34746695
Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants. PMID:34746235
Low genetic confirmation rate in South Indian subjects with a clinical diagnosis of maturity-onset diabetes of the young (MODY) who underwent targeted next-generation sequencing for 13 genes. PMID:34741762
MutScape: an analytical toolkit for probing the mutational landscape in cancer genomics. PMID:34734182
Gene4HL: An Integrated Genetic Database for Hearing Loss. PMID:34733322
The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations. PMID:34721006
Prediction of the Effects of Variants and Differential Expression of Key Host Genes ACE2, TMPRSS2, and FURIN in SARS-CoV-2 Pathogenesis: An In Silico Approach. PMID:34720581
ConVarT: a search engine for matching human genetic variants with variants from non-human species. PMID:34718716
Tracing the Evolution of Human Gene Regulation and Its Association with Shifts in Environment. PMID:34718543
A novel variant in KCNQ1 associated with short QT syndrome. PMID:34712558
CD47 (Cluster of Differentiation 47). PMID:34707698
Progress towards completing the mutant mouse null resource. PMID:34698892
A massive effort links protein-coding gene variants to health. PMID:34697483
Maximizing insights from monogenic immune disorders. PMID:34695727
Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2. PMID:34691159
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region. PMID:34691145
A review of migraine genetics: gathering genomic and transcriptomic factors. PMID:34686893
The SZT2 Interactome Unravels New Functions of the KICSTOR Complex. PMID:34685691
Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions. PMID:34681033
Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders. PMID:34680914
A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5. PMID:34680898
Annotation of 1350 Common Genetic Variants of the 19 ALDH Multigene Family from Global Human Genome Aggregation Database (gnomAD). PMID:34680056
Plating human iPSC lines on micropatterned substrates reveals role for ITGB1 nsSNV in endoderm formation. PMID:34678211
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. PMID:34677878
Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients. PMID:34677667
Molecular Mechanisms of the SLC13A5 Gene Transcription. PMID:34677420
Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma. PMID:34674729
Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast. PMID:34672684
Whole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial Aneurysm. PMID:34668355
Genomic health data generation in the UK: a 360 view. PMID:34663916
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance. PMID:34663447
A sticky situation: regulation and function of protein palmitoylation with a spotlight on the axon and axon initial segment. PMID:34659801
Comprehensive landscape and interference of clonal haematopoiesis mutations for liquid biopsy: A Chinese pan-cancer cohort. PMID:34658138
Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion. PMID:34657631
The dihydropyrimidine dehydrogenase gene contributes to heritable differences in sleep in mice. PMID:34653361
RNA Sequencing Data for FFPE Tumor Blocks Can Be Used for Robust Estimation of Tumor Mutation Burden in Individual Biosamples. PMID:34650919
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. PMID:34645491
Targeted Sequencing Revealed Distinct Mutational Profiles of Ocular and Extraocular Sebaceous Carcinomas. PMID:34638295
A family study implicates GBE1 in the etiology of autism spectrum disorder. PMID:34633740
UNMASC: tumor-only variant calling with unmatched normal controls. PMID:34632388
Exome Sequencing of Pancreatic Acinar Carcinoma Identified Distinctive Mutation Patterns. PMID:34629449
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders. PMID:34626536
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs. PMID:34621295
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes. PMID:34621053
Deletion of Sphingosine 1-Phosphate receptor 1 in cardiomyocytes during development leads to abnormal ventricular conduction and fibrosis. PMID:34618403
SYN1 Mutation Causes X-Linked Toothbrushing Epilepsy in a Chinese Family. PMID:34616357
Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories. PMID:34615865
Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss. PMID:34599368
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies. PMID:34588515
A homozygous R148W mutation in Semaphorin 7A causes progressive familial intrahepatic cholestasis. PMID:34585848
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. PMID:34582790
Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism. PMID:34573277
Distinct gene-set burden patterns underlie common generalized and focal epilepsies. PMID:34571366
ZBTB33 is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing. PMID:34568833
ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele. PMID:34567092
What's Wrong in a Jump? Prediction and Validation of Splice Site Variants. PMID:34564308
Response to Sodium Channel blocking Antiseizure medications and coding polymorphisms of Sodium Channel genes in Taiwanese epilepsy patients. PMID:34556045
BRCA1/BRCA2 variants of uncertain significance in clinical practice: A case report. PMID:34548921
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. PMID:34547244
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update. PMID:34546463
Comprehensive molecular characterization of pediatric radiation-induced high-grade glioma. PMID:34545084
Evolutionary and functional lessons from human-specific amino acid substitution matrices. PMID:34541526
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions. PMID:34535841
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network. PMID:34529933
PTPN4 germline variants result in aberrant neurodevelopment and growth. PMID:34527963
Elevated common variant genetic risk for tourette syndrome in a densely-affected pedigree. PMID:34526668
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression. PMID:34521872
Clonal hematopoiesis in sickle cell disease. PMID:34521115
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine. PMID:34516913
Rare variants in the endocytic pathway are associated with Alzheimer's disease, its related phenotypes, and functional consequences. PMID:34516545
CABE-RY: A PAM-flexible dual-mutation base editor for reliable modeling of multi-nucleotide variants. PMID:34513298
De novo missense variants in FBXO11 alter its protein expression and subcellular localization. PMID:34505148
Differential whole-genome doubling and homologous recombination deficiencies across breast cancer subtypes from the Taiwanese population. PMID:34504292
Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations. PMID:34504065
Distinct genetic landscape and a low response to doxorubicin in a luminal-A breast cancer cell line of Pakistani origin. PMID:34495459
Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers. PMID:34490083
Clinical utility of methionine restriction in adenosine kinase deficiency. PMID:34485018
Case Report: Identification of a Novel Homozygous Mutation in GPD1 Gene of a Chinese Child With Transient Infantile Hypertriglyceridemia. PMID:34484308
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency. PMID:34483339
Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency. PMID:34480478
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. PMID:34475573
Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency. PMID:34473196
Full-length isoform transcriptome of the developing human brain provides further insights into autism. PMID:34469739
Phytosterol accumulation results in ventricular arrhythmia, impaired cardiac function and death in mice. PMID:34465831
Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma. PMID:34465776
A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline. PMID:34465723
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database. PMID:34462577
Identification of BRCA2 Cis Double Heterozygous Breast Cancer Cases Using Whole Exome Sequencing: Phenotypic Expression and Impact on Personalized Oncology. PMID:34456966
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center. PMID:34440436
An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story. PMID:34440414
Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test. PMID:34440401
Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder. PMID:34440290
Revealing enzyme functional architecture via high-throughput microfluidic enzyme kinetics. PMID:34437092
The value of primary transcripts to the clinical and non-clinical genomics community: Survey results and roadmap for improvements. PMID:34435752
Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer. PMID:34434896
A clinically applicable integrative molecular classification of meningiomas. PMID:34433969
Predicting functional consequences of mutations using molecular interaction network features. PMID:34432150
A convergent molecular network underlying autism and congenital heart disease. PMID:34411509
Targeted genomic analysis of 364 adrenocortical carcinomas. PMID:34410225
Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging. PMID:34408140
X-CNV: genome-wide prediction of the pathogenicity of copy number variations. PMID:34407882
A proteome-wide genetic investigation identifies several SARS-CoV-2-exploited host targets of clinical relevance. PMID:34402426
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy. PMID:34402213
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome. PMID:34400539
Recurrent Pregnancy Loss and Concealed Long-QT Syndrome. PMID:34398675
Machine Learning Identifies Clinical and Genetic Factors Associated With Anthracycline Cardiotoxicity in Pediatric Cancer Survivors. PMID:34396283
Increased Cancer Prevalence in Peripartum Cardiomyopathy. PMID:34396183
Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation. PMID:34393998
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis. PMID:34390440
Tumor-infiltrating lymphocyte treatment for anti-PD-1-resistant metastatic lung cancer: a phase 1 trial. PMID:34385708
Collagen fibril assembly: New approaches to unanswered questions. PMID:34381990
Impaired Cx43 gap junction endocytosis causes morphological and functional defects in zebrafish. PMID:34379446
Genomic Autopsy of Sudden Deaths in Young Individuals. PMID:34379075
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders. PMID:34375587
Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. PMID:34369642
A mouse model of brittle cornea syndrome caused by mutation in Zfp469. PMID:34368841
A Novel Germline Compound Heterozygous Mutation of BRCA2 Gene Associated With Familial Peripheral Neuroblastic Tumors in Two Siblings. PMID:34367235
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants. PMID:34360596
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development. PMID:34358225
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder. PMID:34356165
Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children. PMID:34355505
The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients. PMID:34354814
Augmenting and directing long-range CRISPR-mediated activation in human cells. PMID:34354266
"Guilt by association" is not competitive with genetic association for identifying autism risk genes. PMID:34354131
ACO2 clinicobiological dataset with extensive phenotype ontology annotation. PMID:34354088
A domain damage index to prioritizing the pathogenicity of missense variants. PMID:34350656
Whole-exome sequencing reveals MYH7 p.R671C mutation in three different phenotypes of familial hypertrophic cardiomyopathy. PMID:34345284
Haploinsufficiency of SF3B2 causes craniofacial microsomia. PMID:34344887
Decoding disease: from genomes to networks to phenotypes. PMID:34341555
Protective lipid-lowering variants in healthy older individuals without coronary heart disease. PMID:34341098
Oxidized LDL-dependent pathway as new pathogenic trigger in arrhythmogenic cardiomyopathy. PMID:34337880
Deletion of Gremlin-2 alters estrous cyclicity and disrupts female fertility in mice†. PMID:34333627
Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot. PMID:34328347
The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets. PMID:34326338
The role of CDHR3 in susceptibility to otitis media. PMID:34322716
Gene-Based Association Testing of Dichotomous Traits With Generalized Functional Linear Mixed Models Using Extended Pedigrees: Applications to Age-Related Macular Degeneration. PMID:34321704
Loss of crossbridge inhibition drives pathological cardiac hypertrophy in patients harboring the TPM1 E192K mutation. PMID:34319370
Novel Presentation of Homozygous Familial Hypercholesterolemia With Homozygous Variants in Both LDLR and APOB Genes. PMID:34316823
Solenoid architecture of HUWE1 contributes to ligase activity and substrate recognition. PMID:34314700
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants. PMID:34309407
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study. PMID:34308104
Complex analysis of the personalized pharmacotherapy in the management of COVID-19 patients and suggestions for applications of predictive, preventive, and personalized medicine attitude. PMID:34306260
Watch Out for a Second SNP: Focus on Multi-Nucleotide Variants in Coding Regions and Rescued Stop-Gained. PMID:34306009
Variants in linkage status at D5S818 detected by multiple STR kits comparison and Sanger sequencing. PMID:34302451
Genetic contributions to alcohol use disorder treatment outcomes: a genome-wide pharmacogenomics study. PMID:34302059
Three-dimensional missense tolerance ratio analysis. PMID:34301626
Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report. PMID:34301208
Genomic Risk Prediction for Breast Cancer in Older Women. PMID:34298747
Meta-Analysis of Circulating Cell-Free DNA's Role in the Prognosis of Pancreatic Cancer. PMID:34298594
Coexpression network architecture reveals the brain-wide and multiregional basis of disease susceptibility. PMID:34294919
Genomic characteristics of invasive mucinous adenocarcinoma of the lung with multiple pulmonary sites of involvement. PMID:34290355
Germline and Somatic mutations in postmenopausal breast cancer patients. PMID:34287479
TNFRSF13B genotypes control immune-mediated pathology by regulating the functions of innate B cells. PMID:34283811
Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes. PMID:34282249
Splicing in the Diagnosis of Rare Disease: Advances and Challenges. PMID:34276790
An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD® and dbSNP databases. PMID:34272616
Genomic frontiers in congenital heart disease. PMID:34272501
Molecular classification of blood and bleeding disorder genes. PMID:34272389
Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models. PMID:34271981
3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints. PMID:34270679
In vivo and in vitro human gene essentiality estimations capture contrasting functional constraints. PMID:34268495
Effective variant filtering and expected candidate variant yield in studies of rare human disease. PMID:34267211
RNA-Seq Data for Reliable SNP Detection and Genotype Calling: Interest for Coding Variant Characterization and Cis-Regulation Analysis by Allele-Specific Expression in Livestock Species. PMID:34262593
An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility. PMID:34258505
Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype. PMID:34258273
Benchmarking germline CNV calling tools from exome sequencing data. PMID:34257369
Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability. PMID:34244600
Biological implications of genetic variations in autism spectrum disorders from genomics studies. PMID:34240107
CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy. PMID:34235642
BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort. PMID:34235180
Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios. PMID:34234805
The first insight into the genetic structure of the population of modern Serbia. PMID:34234178
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors. PMID:34231212
A global overview of genetically interpretable multimorbidities among common diseases in the UK Biobank. PMID:34225788
An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy. PMID:34224328
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes. PMID:34220947
APP, PSEN1, and PSEN2 Variants in Alzheimer's Disease: Systematic Re-evaluation According to ACMG Guidelines. PMID:34220489
Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma. PMID:34215733
Genomic partitioning of inbreeding depression in humans. PMID:34214457
Shifting landscapes of human MTHFR missense-variant effects. PMID:34214447
Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis. PMID:34213952
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. PMID:34211179
Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia. PMID:34210339
Whole Exome Sequencing of 23 Multigeneration Idiopathic Scoliosis Families Reveals Enrichments in Cytoskeletal Variants, Suggests Highly Polygenic Disease. PMID:34208743
Mutagenic Consequences of Sublethal Cell Death Signaling. PMID:34200309
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database. PMID:34200080
Genome-wide association studies: assessing trait characteristics in model and crop plants. PMID:34196733
Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis. PMID:34194442
Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum. PMID:34193236
The effect of protein mutations on drug binding suggests ensuing personalised drug selection. PMID:34188094
5'-UTR SNP of FGF13 causes translational defect and intellectual disability. PMID:34184986
Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome. PMID:34178674
Exome-based investigation of the genetic basis of human pigmentary glaucoma. PMID:34174832
Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene. PMID:34170635
Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene. PMID:34169149
The origin of human mutation in light of genomic data. PMID:34163020
History of the methodology of disease gene identification. PMID:34159713
Enrichment of low abundance DNA/RNA by oligonucleotide-clicked iron oxide nanoparticles. PMID:34158543
The clinicopathologic spectrum and genomic landscape of de-/trans-differentiated melanoma. PMID:34155350
Assessment of the gene mosaicism burden in blood and its implications for immune disorders. PMID:34155260
Human intermediate progenitor diversity during cortical development. PMID:34155100
Deep sequencing of 1320 genes reveals the landscape of protein-truncating variants and their contribution to psoriasis in 19,973 Chinese individuals. PMID:34155038
High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing. PMID:34149797
A Robust and Rapid Candidate Gene Mapping Pipeline Based on M2 Populations. PMID:34149782
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study. PMID:34145886
Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder. PMID:34145229
Massive PD-L1 and CD8 double positive TILs characterize an immunosuppressive microenvironment with high mutational burden in lung cancer. PMID:34140315
Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance. PMID:34137790
Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs. PMID:34137518
Genetic Screening Revealed Latent Keratoconus in Asymptomatic Individuals. PMID:34136477
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent. PMID:34135346
Pathogenic effect of TP73 Gene Variants in People With Amyotrophic Lateral Sclerosis. PMID:34135078
Identification of candidate gene variants of monogenic diabetes using targeted panel sequencing in early onset diabetes patients. PMID:34135026
An Axin2 mutation and perinatal risk factors contribute to sagittal craniosynostosis: evidence from a Chinese female monochorionic diamniotic twin family. PMID:34134783
Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome. PMID:34131099
Exome variant discrepancies due to reference-genome differences. PMID:34129815
Lymphedema complicated by protein-losing enteropathy with a 22q13.3 deletion and the potential role of CELSR1: A case report. PMID:34128868
Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial. PMID:34127041
Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome. PMID:34125832
Posttranslational Modifications of the Mineralocorticoid Receptor and Cardiovascular Aging. PMID:34124152
The genetic architecture of Plakophilin 2 cardiomyopathy. PMID:34120153
Heterozygous variants of CLPB are a cause of severe congenital neutropenia. PMID:34115842
Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity. PMID:34113375
Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia. PMID:34108988
Degree of foot process effacement in patients with genetic focal segmental glomerulosclerosis: a single-center analysis and review of the literature. PMID:34103591
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. PMID:34102099
Functional and behavioral effects of de novo mutations in calcium-related genes in patients with bipolar disorder. PMID:34100076
Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs. PMID:34099641
Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction. PMID:34095246
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. PMID:34087052
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients. PMID:34084454
Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings. PMID:34078172
Chronic lithium treatment alters the excitatory/ inhibitory balance of synaptic networks and reduces mGluR5-PKC signalling in mouse cortical neurons. PMID:34077150
Rheostat functional outcomes occur when substitutions are introduced at nonconserved positions that diverge with speciation. PMID:34076313
Impact of FGFR4 Gene Polymorphism on the Progression of Colorectal Cancer. PMID:34071523
Focused Strategies for Defining the Genetic Architecture of Congenital Heart Defects. PMID:34071175
Higher EU-TIRADS-Score Correlated with BRAF V600E Positivity in the Early Stage of Papillary Thyroid Carcinoma. PMID:34070605
Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline Variants. PMID:34069790
Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings. PMID:34067575
The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma. PMID:34067022
Molecular mechanisms of metabotropic GABAB receptor function. PMID:34049877
Non-additive association analysis using proxy phenotypes identifies novel cattle syndromes. PMID:34045765
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly. PMID:34040189
ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance. PMID:34039421
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus. PMID:34038384
Essential genes from genome-wide screenings as a resource for neuropsychiatric disorders gene discovery. PMID:34035214
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses. PMID:34034819
Transcriptome-wide association study uncovers the role of essential genes in anthracycline-induced cardiotoxicity. PMID:34021165
Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis. PMID:34016879
WEScover: selection between clinical whole exome sequencing and gene panel testing. PMID:34016036
A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity. PMID:34015270
Identification of genetic variations associated with drug resistance in non-small cell lung cancer patients undergoing systemic treatment. PMID:34013324
Feasibility of predicting allele specific expression from DNA sequencing using machine learning. PMID:34012022
Novel Alzheimer's disease risk variants identified based on whole-genome sequencing of APOE ε4 carriers. PMID:34011927
A method to delineate de novo missense variants across pathways prioritizes genes linked to autism. PMID:34011629
Whole-Genome Sequencing of Common Salivary Gland Carcinomas: Subtype-Restricted and Shared Genetic Alterations. PMID:34011559
Multiple, independent, common variants at RET, SEMA3 and NRG1 gut enhancers specify Hirschsprung disease risk in European ancestry subjects. PMID:34006365
Transcriptome-wide association analysis of brain structures yields insights into pleiotropy with complex neuropsychiatric traits. PMID:34001886
Population genetic considerations for using biobanks as international resources in the pandemic era and beyond. PMID:34001009
dSPRINT: predicting DNA, RNA, ion, peptide and small molecule interaction sites within protein domains. PMID:33999210
Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD). PMID:33984517
The Complex and Diverse Genetic Architecture of Dilated Cardiomyopathy. PMID:33983834
Gene4PD: A Comprehensive Genetic Database of Parkinson's Disease. PMID:33981200
Balancing scientific interests and the rights of participants in designing a recall by genotype study. PMID:33981014
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects. PMID:33980861
Hotspot exons are common targets of splicing perturbations. PMID:33980843
Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years later. PMID:33977025
Inherited Variants in SCARB1 Cause Severe Early-Onset Coronary Artery Disease. PMID:33975440
Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1. PMID:33974636
Knowledge bases and software support for variant interpretation in precision oncology. PMID:33971666
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. PMID:33970200
Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease. PMID:33969176
Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice. PMID:33968937
Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia. PMID:33967275
Nanoparticle-based approaches to target the lymphatic system for antitumor treatment. PMID:33963442
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. PMID:33962631
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. PMID:33951726
Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes. PMID:33949662
SLF1 polymorphism predicts response to oxaliplatin-based adjuvant chemotherapy in patients with colon cancer. PMID:33948371
GRIN2A Variant in A 3-Year-Old-An Expanding Spectrum? PMID:33946630
Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles. PMID:33946386
Detection of new drivers of frequent B-cell lymphoid neoplasms using an integrated analysis of whole genomes. PMID:33945543
A versatile polypharmacology platform promotes cytoprotection and viability of human pluripotent and differentiated cells. PMID:33941937
Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease. PMID:33938619
Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders. PMID:33937879
Functional consequences of a rare missense BARD1 c.403G>A germline mutation identified in a triple-negative breast cancer patient. PMID:33933153
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. PMID:33932343
A clinical transcriptome approach to patient stratification and therapy selection in acute myeloid leukemia. PMID:33931648
Prevalence and Impact of Apolipoprotein E7 on LDL Cholesterol Among Patients With Familial Hypercholesterolemia. PMID:33928131
New insights into hallux valgus by whole exome sequencing study. PMID:33926255
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature. PMID:33925474
Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies. PMID:33924653
Evolutionary Trajectories and Genomic Divergence in Localized Breast Cancers after Ipsilateral Breast Tumor Recurrence. PMID:33920370
Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers. PMID:33919281
Analysis of Missense Variants in the Human Histamine Receptor Family Reveals Increased Constitutive Activity of E4106.30×30K Variant in the Histamine H1 Receptor. PMID:33918180
The Role of the Rare Variants in the Genes Encoding the Alpha-Ketoglutarate Dehydrogenase in Alzheimer's Disease. PMID:33917565
Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive Overview. PMID:33916893
A Novel Low-Risk Germline Variant in the SH2 Domain of the SRC Gene Affects Multiple Pathways in Familial Colorectal Cancer. PMID:33916261
Pathogenic missense protein variants affect different functional pathways and proteomic features than healthy population variants. PMID:33909605
ANGPTL8 protein-truncating variant associated with lower serum triglycerides and risk of coronary disease. PMID:33909604
Diagnosis and Management of Sitosterolemia 2021. PMID:33907061
Whole-genome sequencing of phenotypically distinct inflammatory breast cancers reveals similar genomic alterations to non-inflammatory breast cancers. PMID:33902690
Familial Psychosis Associated With a Missense Mutation at MACF1 Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the CNTN6 and CDH13 Genes. PMID:33897758
MutationTaster2021. PMID:33893808
Combined epigenetic/genetic study identified an ALS age of onset modifier. PMID:33892821
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer. PMID:33889545
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder. PMID:33880452
GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases. PMID:33868597
Resistance to Thyroid Hormone Beta: A Focused Review. PMID:33868182
Clinical delineation of SETBP1 haploinsufficiency disorder. PMID:33867525
Screening of PCSK9 and LDLR genetic variants in Familial Hypercholesterolemia (FH) patients in India. PMID:33864011
FXR1 regulation of parvalbumin interneurons in the prefrontal cortex is critical for schizophrenia-like behaviors. PMID:33863995
A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency. PMID:33863366
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders. PMID:33860439
Development and Analytical Validation of a Targeted Next-Generation Sequencing Panel to Detect Actionable Mutations for Targeted Therapy. PMID:33854338
Genetic basis of hypercholesterolemia in adults. PMID:33854068
Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants. PMID:33851121
Progress in Defining the Genetic Contribution to Type 2 Diabetes in Individuals of East Asian Ancestry. PMID:33846905
Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families. PMID:33837273
Genomic landscape of extraordinary responses in metastatic breast cancer. PMID:33837242
Bayesian estimation of cell type-specific gene expression with prior derived from single-cell data. PMID:33837133
EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden. PMID:33833316
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice. PMID:33833240
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia. PMID:33824466
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. PMID:33824317
Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population. PMID:33822938
Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis. PMID:33819264
Low Diversity of Human Variation Despite Mostly Mild Functional Impact of De Novo Variants. PMID:33816556
Establishment and characterization of 38 novel patient-derived primary cancer cell lines using multi-region sampling revealing intra-tumor heterogeneity of gallbladder carcinoma. PMID:33813726
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. PMID:33811806
Tumor genomic, transcriptomic, and immune profiling characterizes differential response to first-line platinum chemotherapy in high grade serous ovarian cancer. PMID:33811746
Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma. PMID:33811277
Detection of Rare Germline Variants in the Genomes of Patients with B-Cell Neoplasms. PMID:33809641
Integration of Data from Liquid-Liquid Phase Separation Databases Highlights Concentration and Dosage Sensitivity of LLPS Drivers. PMID:33809541
Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8. PMID:33807969
Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree. PMID:33807568
Clinical Features and Multiplatform Molecular Analysis Assist in Understanding Patient Response to Anti-PD-1/PD-L1 in Renal Cell Carcinoma. PMID:33806963
Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia. PMID:33804237
Neo-Fs Index: A Novel Immunohistochemical Biomarker Panel Predicts Survival and Response to Anti-Angiogenetic Agents in Clear Cell Renal Cell Carcinoma. PMID:33801954
Excision Repair Cross-Complementation Group 6 Gene Polymorphism Is Associated with the Response to FOLFIRINOX Chemotherapy in Asian Patients with Pancreatic Cancer. PMID:33801891
Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling. PMID:33801777
Dissection of the Genetic Association between Anorexia Nervosa and Obsessive-Compulsive Disorder at the Network and Cellular Levels. PMID:33801746
Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects. PMID:33798553
Expanding the phenotype of CACNA1C mutation disorders. PMID:33797204
Deep neural networks identify sequence context features predictive of transcription factor binding. PMID:33796819
Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations. PMID:33796225
Subtype-specific and co-occurring genetic alterations in B-cell non-Hodgkin lymphoma. PMID:33792219
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes. PMID:33791682
Brain Magnetic Resonance Imaging Phenome-Wide Association Study With Metal Transporter Gene SLC39A8. PMID:33790950
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies. PMID:33789087
Overlapping roles of JIP3 and JIP4 in promoting axonal transport of lysosomes in human iPSC-derived neurons. PMID:33788575
A CRISPR/CAS9-based strategy targets the personalized chimeric neosequence in fusion-driven cancer genome for precision medicine. PMID:33783997
Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg. PMID:33776625
Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities. PMID:33772059
PRL Mutation Causing Alactogenesis: Insights Into Prolactin Structure and Function Relationships. PMID:33770166
Universal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights. PMID:33767345
Whole Genome Interpretation for a Family of Five. PMID:33763108
ATAV: a comprehensive platform for population-scale genomic analyses. PMID:33757430
In-utero exposure to zidovudine-containing antiretroviral therapy and clonal hematopoiesis in HIV-exposed uninfected newborns. PMID:33756513
Hovlinc is a recently evolved class of ribozyme found in human lncRNA. PMID:33753927
The etiology of Down syndrome: Maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte. PMID:33750944
Disrupting upstream translation in mRNAs is associated with human disease. PMID:33750777
Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause. PMID:33750045
Advancing drug discovery using the power of the human genome. PMID:33748968
Analysis workflow to assess de novo genetic variants from human whole-exome sequencing. PMID:33748785
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation. PMID:33743207
Inflation of tumor mutation burden by tumor-only sequencing in under-represented groups. PMID:33742076
The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects. PMID:33740458
Mutations in spike protein and allele variations in ACE2 impact targeted therapy strategies against SARS-CoV-2. PMID:33738989
Comprehensive analysis of mutational and clinicopathologic characteristics of poorly differentiated colorectal neuroendocrine carcinomas. PMID:33737597
Clinicopathological and Molecular Analysis of 45 Cases of Pure Mucinous Breast Cancer. PMID:33732635
Phylotranscriptomic analysis of Dillenia indica L. (Dilleniales, Dilleniaceae) and its systematics implication. PMID:33732040
Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution. PMID:33731941
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency. PMID:33731878
Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus. PMID:33729517
MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor. PMID:33728376
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates. PMID:33727708
Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes. PMID:33719213
Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia. PMID:33718894
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database. PMID:33717985
The mitochondrial intermembrane space: the most constricted mitochondrial sub-compartment with the largest variety of protein import pathways. PMID:33715390
Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran. PMID:33713422
A Case of Severe Combined Immunodeficiency Missed by Newborn Screening. PMID:33712943
Short loop functional commonality identified in leukaemia proteome highlights crucial protein sub-networks. PMID:33709075
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders. PMID:33704440
Dissecting autism and schizophrenia through neuroimaging genomics. PMID:33704401
An Asian-specific MPL genetic variant alters JAK-STAT signaling and influences platelet count in the population. PMID:33693786
Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal Population. PMID:33693626
Pediatric Malignant Arrhythmias Caused by Rare Homozygous Genetic Variants in TRDN: A Comprehensive Interpretation. PMID:33692971
Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer. PMID:33692755
A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome. PMID:33691640
Global analysis of shared T cell specificities in human non-small cell lung cancer enables HLA inference and antigen discovery. PMID:33691136
Negative selection on complex traits limits phenotype prediction accuracy between populations. PMID:33691092
Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning. PMID:33686085
Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series. PMID:33680884
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances. PMID:33679889
TNFRSF13B Diversification Fueled by B Cell Responses to Environmental Challenges-A Hypothesis. PMID:33679786
Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer. PMID:33673279
First reported CABP2-related non-syndromic hearing loss in Northern Europe. PMID:33666369
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation. PMID:33665635
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families. PMID:33664247
Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype. PMID:33661429
Discordant clinical features of identical hypertrophic cardiomyopathy twins. PMID:33658374
SLCO1B1: Application and Limitations of Deep Mutational Scanning for Genomic Missense Variant Function. PMID:33658230
Ethnic and trans-ethnic genome-wide association studies identify new loci influencing Japanese Alzheimer's disease risk. PMID:33654092
Clinicopathological and Genomic Characterization of a Simmental Calf with Generalized Bovine Juvenile Angiomatosis. PMID:33652974
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. PMID:33649541
Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia. PMID:33639934
Spiking dependence of SARS-CoV-2 pathogenicity on TMPRSS2. PMID:33638460
Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer's disease. PMID:33637690
Comparing Ethnicity-Specific Reference Intervals for Clinical Laboratory Tests from EHR Data. PMID:33636914
Identification of Maturity-Onset Diabetes of the Young Caused by Mutation in FOXM1 via Whole-Exome Sequencing in Northern China. PMID:33633681
Next Generation Exome Sequencing of Pediatric Asthma Identifies Rare and Novel Variants in Candidate Genes. PMID:33628342
Rare versus common diseases: a false dichotomy in precision medicine. PMID:33627657
Predicting dynamic cellular protein-RNA interactions by deep learning using in vivo RNA structures. PMID:33623109
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies. PMID:33623043
Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye. PMID:33620406
CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores. PMID:33618777
TGF-β Signaling Promotes Glioma Progression Through Stabilizing Sox9. PMID:33613515
Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing. PMID:33604570
Enrichment of FGFR3-TACC3 Fusions in Patients With Bladder Cancer Who Are Young, Asian, or Have Never Smoked. PMID:33604498
A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models. PMID:33602898
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing. PMID:33597727
Population-specific causal disease effect sizes in functionally important regions impacted by selection. PMID:33597505
Rare deleterious germline variants and risk of lung cancer. PMID:33594163
West Syndrome Caused By a Chloride/Proton Exchange-Uncoupling CLCN6 Mutation Related to Autophagic-Lysosomal Dysfunction. PMID:33590434
Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation. PMID:33589468
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines. PMID:33586140
Filaggrin gene mutations with special reference to atopic dermatitis. PMID:33585163
A Six-lncRNA Signature for Immunophenotype Prediction of Glioblastoma Multiforme. PMID:33584801
Titin Circular RNAs Create a Back-Splice Motif Essential for SRSF10 Splicing. PMID:33583186
Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease. PMID:33579389
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus. PMID:33575671
Targeted exome sequencing for the identification of common mutational signatures and potential driver mutations for brain metastases and prognosis. PMID:33574918
Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation. PMID:33574382
Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese. PMID:33574314
Genomic profiling of extracellular vesicle-derived DNA from bronchoalveolar lavage fluid of patients with lung adenocarcinoma. PMID:33569297
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. PMID:33568819
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. PMID:33568816
Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy. PMID:33568546
Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features. PMID:33566628
A Molecular network approach reveals shared cellular and molecular signatures between chronic fatigue syndrome and other fatiguing illnesses. PMID:33564792
Association of CYP3A5 Gene Polymorphisms and Amlodipine-Induced Peripheral Edema in Chinese Han Patients with Essential Hypertension. PMID:33564260
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance. PMID:33564012
Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies. PMID:33562463
Comprehensive characterization of protein-protein interactions perturbed by disease mutations. PMID:33558758
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer. PMID:33558524
Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease. PMID:33557656
EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease. PMID:33553620
Genetics and Clinical Features of Noncompaction Cardiomyopathy in the Fetal Population. PMID:33553264
MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution. PMID:33552904
Defective Lysosomal Lipid Catabolism as a Common Pathogenic Mechanism for Dementia. PMID:33550528
InMeRF: prediction of pathogenicity of missense variants by individual modeling for each amino acid substitution. PMID:33543123
Origins of human genetics. A personal perspective. PMID:33542497
Transcriptome-wide transmission disequilibrium analysis identifies novel risk genes for autism spectrum disorder. PMID:33539344
Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments. PMID:33537542
Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival. PMID:33536423
Inherited Kidney Complement Diseases. PMID:33536243
Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia. PMID:33533259
Evaluating the molecular diagnostic yield of joint genotyping-based approach for detecting rare germline pathogenic and putative loss-of-function variants. PMID:33531667
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. PMID:33531666
Crystal structure of human PACRG in complex with MEIG1 reveals roles in axoneme formation and tubulin binding. PMID:33529594
Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon. PMID:33528103
Genetic characterisation of adult primary pleomorphic uterine rhabdomyosarcoma and comparison with uterine carcinosarcoma. PMID:33527450
Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants. PMID:33526825
Chloroquine and Hydroxychloroquine Interact Differently with ACE2 Domains Reported to Bind with the Coronavirus Spike Protein: Mediation by ACE2 Polymorphism. PMID:33525415
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation. PMID:33523931
Promise and Peril of Population Genomics for the Development of Genome-First Approaches in Mendelian Cardiovascular Disease. PMID:33517676
Evolutionary conservation and divergence of the human brain transcriptome. PMID:33514394
Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran. PMID:33513295
Utilization of Whole Exome Sequencing Data to Identify Clinically Relevant Pharmacogenomic Variants in Pediatric Inflammatory Bowel Disease. PMID:33512800
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. PMID:33508234
The contribution of X-linked coding variation to severe developmental disorders. PMID:33504798
Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies. PMID:33504652
Inflammation-driven deaminase deregulation fuels human pre-leukemia stem cell evolution. PMID:33503434
Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B. PMID:33502714
Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene. PMID:33501421
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans. PMID:33496845
Genomic Mutations of Primary and Metastatic Lung Adenocarcinoma in Chinese Patients. PMID:33488709
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder. PMID:33483695
MVP predicts the pathogenicity of missense variants by deep learning. PMID:33479230
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. PMID:33476483
Genetic characterization of the Albanian Gaucher disease patient population. PMID:33473340
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. PMID:33473207
A platform for curated products from novel open reading frames prompts reinterpretation of disease variants. PMID:33468550
A rare large duplication of MLH1 identified in Lynch syndrome. PMID:33468175
Early-Onset Alzheimer's Disease: What Is Missing in Research? PMID:33464407
Genome-wide landscape of RNA-binding protein target site dysregulation reveals a major impact on psychiatric disorder risk. PMID:33462483
FGFR4 c.1162G > A (p.Gly388Arg) Polymorphism Analysis in Turkish Patients with Retinoblastoma. PMID:33456465
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration. PMID:33452270
Making sense of missense variants in TTN-related congenital myopathies. PMID:33449170
Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa. PMID:33448881
Extension of SKAT to multi-category phenotypes through a geometrical interpretation. PMID:33446828
Patterns of de novo tandem repeat mutations and their role in autism. PMID:33442040
DALIA- a comprehensive resource of Disease Alleles in Arab population. PMID:33439861
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing. PMID:33436942
Of numbers and movement - understanding transcription factor pathogenesis by advanced microscopy. PMID:33433399
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs. PMID:33432339
Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia. PMID:33432196
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. PMID:33432195
Exploring the biological role of postzygotic and germinal de novo mutations in ASD. PMID:33431980
Strategies to Identify Genetic Variants Causing Infertility. PMID:33431240
Mild cognitive impairment in novel SPG11 mutation-related sporadic hereditary spastic paraplegia with thin corpus callosum: case series. PMID:33430805
Combination of Genome-Wide Polymorphisms and Copy Number Variations of Pharmacogenes in Koreans. PMID:33430289
Population structure of indigenous inhabitants of Arabia. PMID:33428619
Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2). PMID:33428613
Assessment of LIN28A variants in Parkinson's disease in large European cohorts. PMID:33423828
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance. PMID:33417088
Differential intolerance to loss of function and missense mutations in genes that encode human matricellular proteins. PMID:33415696
Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability. PMID:33414497
Gene variations in autism spectrum disorder are associated with alteration of gut microbiota, metabolites and cytokines. PMID:33412999
Network propagation of rare variants in Alzheimer's disease reveals tissue-specific hub genes and communities. PMID:33411734
Human genetic variants disrupt RGS14 nuclear shuttling and regulation of LTP in hippocampal neurons. PMID:33410399
Predicting the Disease Risk of Protein Mutation Sequences With Pre-training Model. PMID:33408741
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance. PMID:33408250
Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences. PMID:33407744
Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort. PMID:33407432
Pannexin 1 mutation found in melanoma tumor reduces phosphorylation, glycosylation, and trafficking of the channel-forming protein. PMID:33405952
The origins and consequences of UPF1 variants in pancreatic adenosquamous carcinoma. PMID:33404013
Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease. PMID:33402667
Accurate, scalable cohort variant calls using DeepVariant and GLnexus. PMID:33399819
Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19. PMID:33398295
Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy. PMID:33397963
Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder. PMID:33397775
Whole exome sequencing and system biology analysis support the "two-hit" mechanism in the onset of Ameloblastoma. PMID:33395399
Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling. PMID:33388374
The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism. PMID:33383702
Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish. PMID:33382518
Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. PMID:33372952
Red panda: a novel method for detecting variants in single-cell RNA sequencing. PMID:33372593
Genetic variation in the Middle East-an opportunity to advance the human genetics field. PMID:33371902
GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases. PMID:33368787
Less Is More, Natural Loss-of-Function Mutation Is a Strategy for Adaptation. PMID:33367264
Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing. PMID:33363845
Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese. PMID:33362202
Rare and de novo coding variants in chromodomain genes in Chiari I malformation. PMID:33352116
Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations. PMID:33349842
NKCC1: Newly Found as a Human Disease-Causing Ion Transporter. PMID:33345190
Simulation of African and non-African low and high coverage whole genome sequence data to assess variant calling approaches. PMID:33341897
Coupling of autism genes to tissue-wide expression and dysfunction of synapse, calcium signalling and transcriptional regulation. PMID:33338084
Deubiquitylases in developmental ubiquitin signaling and congenital diseases. PMID:33335288
Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility. PMID:33335035
A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. PMID:33332743
Genomic and phenotypic heterogeneity in prostate cancer. PMID:33328650
Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer. PMID:33326660
Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes. PMID:33324081
The Genetic Evolution of Treatment-Resistant Cutaneous, Acral, and Uveal Melanomas. PMID:33323400
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL. PMID:33322828
Clustering Analysis Supports the Detection of Biological Processes Related to Autism Spectrum Disorder. PMID:33316975
Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier. PMID:33315133
PD-1 blockade using pembrolizumab in adolescent and young adult patients with advanced bone and soft tissue sarcoma. PMID:33314769
Systematic review of CMTX1 patients with episodic neurological dysfunction. PMID:33314704
Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data. PMID:33313134
Ancestry of the AUTS2 family-A novel group of polycomb-complex proteins involved in human neurological disease. PMID:33306672
A flexible computational pipeline for research analyses of unsolved clinical exome cases. PMID:33303739
COVID-19: The Effect of Host Genetic Variations on Host-Virus Interactions. PMID:33301685
Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype. PMID:33301229
Prioritizing genes for systematic variant effect mapping. PMID:33300982
Predicting regulatory variants using a dense epigenomic mapped CNN model elucidated the molecular basis of trait-tissue associations. PMID:33300042
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. PMID:33299146
Missense variant contribution to USP9X-female syndrome. PMID:33298948
Site specificity determinants for prelamin A cleavage by the zinc metalloprotease ZMPSTE24. PMID:33293369
PEA15 loss of function and defective cerebral development in the domestic cat. PMID:33290415
Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease. PMID:33288751
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation. PMID:33281559
Characterizing the effect of background selection on the polygenicity of brain-related traits. PMID:33278486
COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage. PMID:33277529
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. PMID:33276377
Common germline-somatic variant interactions in advanced urothelial cancer. PMID:33273457
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883). PMID:33273034
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing. PMID:33269076
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. PMID:33268356
Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis. PMID:33265914
Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene. PMID:33264630
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias. PMID:33263113
Finding a suitable library size to call variants in RNA-Seq. PMID:33261552
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene. PMID:33257846
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region. PMID:33257509
THBS1 (thrombospondin-1). PMID:33244322
Clinical and Molecular Characterization of Microphthalmia-associated Transcription Factor (MITF)-related Renal Cell Carcinoma. PMID:33242557
Current knowledge of SLC6A1-related neurodevelopmental disorders. PMID:33241211
The genetic architecture of sporadic and multiple consecutive miscarriage. PMID:33239672
Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease. PMID:33239198
Currently Applied Molecular Assays for Identifying ESR1 Mutations in Patients with Advanced Breast Cancer. PMID:33233830
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. PMID:33223528
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2. PMID:33219223
Linking Autism Risk Genes to Disruption of Cortical Development. PMID:33218123
Molecular Features of Cancers Exhibiting Exceptional Responses to Treatment. PMID:33217343
No association between SCN9A and monogenic human epilepsy disorders. PMID:33216760
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles. PMID:33216750
Genetic associations of in vivo pathology influence Alzheimer's disease susceptibility. PMID:33213512
Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly. PMID:33210059
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes. PMID:33208168
GLP-1 Receptor Agonist Treatment in Morbid Obesity and Type 2 Diabetes Due to Pathogenic Homozygous Melanocortin-4 Receptor Mutation: A Case Report. PMID:33205056
Role of Non-Coding Variants in Brugada Syndrome. PMID:33202810
Multiplexed Functional Assessment of Genetic Variants in CARD11. PMID:33202260
Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma. PMID:33201204
RNF213 gene mutation in circulating tumor DNA detected by targeted next-generation sequencing in the assisted discrimination of early-stage lung cancer from pulmonary nodules. PMID:33200540
Genotype-phenotype analysis in Mowat-Wilson syndrome associated with two novel and two recurrent ZEB2 variants. PMID:33199988
Germline AGO2 mutations impair RNA interference and human neurological development. PMID:33199684
Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction. PMID:33195396
Exome Sequencing of Native Populations From the Amazon Reveals Patterns on the Peopling of South America. PMID:33193622
Mutational analysis in familial Alzheimer's disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile. PMID:33188256
The palmitoyl acyltransferase ZDHHC14 controls Kv1-family potassium channel clustering at the axon initial segment. PMID:33185190
Transcriptome and translatome co-evolution in mammals. PMID:33177713
A comparative genomics multitool for scientific discovery and conservation. PMID:33177664
DORGE: Discovery of Oncogenes and tumoR suppressor genes using Genetic and Epigenetic features. PMID:33177077
Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing. PMID:33173047
Finding MEMO-Emerging Evidence for MEMO1's Function in Development and Disease. PMID:33172038
Clinical and Genomic Characteristics of Adult Diffuse Midline Glioma. PMID:33171023
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes. PMID:33170376
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. PMID:33168985
Genetic testing in dementia - utility and clinical strategies. PMID:33168964
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism. PMID:33157009
Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data. PMID:33154511
Naturally-Occurring Rare Mutations Cause Mild to Catastrophic Effects in the Multifunctional and Cancer-Associated NQO1 Protein. PMID:33153185
Analysis of Glucocorticoid-Related Genes Reveal CCHCR1 as a New Candidate Gene for Type 2 Diabetes. PMID:33150273
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME. PMID:33144514
Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy. PMID:33141179
Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1. PMID:33139814
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study. PMID:33138774
A Machine Learning Approach to Predicting Autism Risk Genes: Validation of Known Genes and Discovery of New Candidates. PMID:33133139
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity. PMID:33131499
Genetic association study of fatal pulmonary embolism. PMID:33128086
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review. PMID:33126574
Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants. PMID:33126486
WDR34, a candidate gene for non-syndromic rod-cone dystrophy. PMID:33124039
The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease. PMID:33122718
Protective Variants in Alzheimer's Disease. PMID:33117616
Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma. PMID:33117328
High-depth African genomes inform human migration and health. PMID:33116287
Genome integrity and neurogenesis of postnatal hippocampal neural stem/progenitor cells require a unique regulator Filia. PMID:33115731
Latin American Genes: The Great Forgotten in Rheumatoid Arthritis. PMID:33114702
A Novel Mutation in Insulin-Like Growth Factor 1 Receptor (c.641-2A>G) Is Associated with Impaired Growth, Hypoglycemia, and Modified Immune Phenotypes. PMID:33113547
Developmental Gene Expression Differences between Humans and Mammalian Models. PMID:33113372
Mutations primarily alter the inclusion of alternatively spliced exons. PMID:33112234
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences. PMID:33110418
Identification of potential causal variants for premature ovarian failure by whole exome sequencing. PMID:33109206
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. PMID:33108101
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants. PMID:33106425
ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms. PMID:33106390
Functional Defect of Neutrophils Causing Dermatophytosis: Case Report. PMID:33105551
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. PMID:33105479
Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes. PMID:33104793
A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1. PMID:33098688
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. PMID:33098347
IndiGenomes: a comprehensive resource of genetic variants from over 1000 Indian genomes. PMID:33095885
DEG 15, an update of the Database of Essential Genes that includes built-in analysis tools. PMID:33095861
Premature aging syndrome showing random chromosome number instabilities with CDC20 mutation. PMID:33094908
A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism. PMID:33090996
A Novel CYBB Variant Causing X-Linked Chronic Granulomatous Disease in a Patient with Empyema. PMID:33090293
Association of Uncommon, Noncoding Variants in the APOE Region With Risk of Alzheimer Disease in Adults of European Ancestry. PMID:33090224
Reference exome data for a Northern Brazilian population. PMID:33087711
Differential gene regulatory pattern in the human brain from schizophrenia using transcriptomic-causal network. PMID:33087039
Gene expression variability in human and chimpanzee populations share common determinants. PMID:33084571
The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations. PMID:33083011
Genetic association of FMRP targets with psychiatric disorders. PMID:33077856
Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity. PMID:33077514
The First Year Experience of Newborn Screening for Pompe Disease in California. PMID:33073007
Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants. PMID:33067521
Evidence for 28 genetic disorders discovered by combining healthcare and research data. PMID:33057194
Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions. PMID:33052113
The Genomics of Elevated ALT and Adducts in Therapeutic Acetaminophen Treatment: a Pilot Study. PMID:33051802
Protein-protein and protein-nucleic acid binding residues important for common and rare sequence variants in human. PMID:33050876
Towards Accurate Genotype-Phenotype Correlations in the CYP2D6 Gene. PMID:33049937
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes. PMID:33046911
Clinical Implications of the Genetic Architecture of Dilated Cardiomyopathy. PMID:33040239
Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation. PMID:33034563
Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart. PMID:33033063
De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types. PMID:33032641
A role for the MEGF6 gene in predisposition to osteoporosis. PMID:33026655
Development of a Cardiac Sarcomere Functional Genomics Platform to Enable Scalable Interrogation of Human TNNT2 Variants. PMID:33025817
Epigenomic, genomic, and transcriptomic landscape of schwannomatosis. PMID:33025139
Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder. PMID:33023636
The Genetics of Spondyloarthritis. PMID:33023259
Characteristics of anti-CD19 CAR T cell infusion products associated with efficacy and toxicity in patients with large B cell lymphomas. PMID:33020644
Modulating gene regulation to treat genetic disorders. PMID:33020616
Practical guide to genetic screening for inherited eye diseases. PMID:33015543
Clinical Significance of Somatostatin Receptor (SSTR) 2 in Meningioma. PMID:33014821
Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia. PMID:33014402
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review. PMID:33013363
Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses. PMID:33012783
Noninvasive Early Identification of Therapeutic Benefit from Immune Checkpoint Inhibition. PMID:33007267
Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome. PMID:33006316
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI). PMID:33005041
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. PMID:33004838
Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci. PMID:33002040
Innovations present in the primate interneuron repertoire. PMID:32999462
Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D. PMID:32999275
Update on Genetic Basis of Brugada Syndrome: Monogenic, Polygenic or Oligogenic? PMID:32998306
Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures. PMID:32997669
The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders. PMID:32997275
Cancer Predisposition Genes in Cancer-Free Families. PMID:32992489
Lipid transfer proteins and instructive regulation of lipid kinase activities: Implications for inositol lipid signaling and disease. PMID:32992233
CSVS, a crowdsourcing database of the Spanish population genetic variability. PMID:32990755
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. PMID:32989326
INCIDENTAL PULMONARY METASTASES REVEALING SUBCENTIMETER PAPILLARY THYROID CARCINOMA. PMID:32984537
Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation. PMID:32973878
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy. PMID:32973342
Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier. PMID:32973300
Aplastic anemia in a patient with CVID due to NFKB1 haploinsufficiency. PMID:32972988
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I. PMID:32969598
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants. PMID:32966289
Machine learning demonstrates that somatic mutations imprint invariant morphologic features in myelodysplastic syndromes. PMID:32961553
Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency. PMID:32960813
Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks. PMID:32960507
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity. PMID:32960281
Polymicrogyria is Associated With Pathogenic Variants in PTEN. PMID:32959437
Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers. PMID:32954205
Elevated Leukodystrophy Incidence Predicted From Genomics Databases. PMID:32951664
A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability. PMID:32948248
Evaluating the informativeness of deep learning annotations for human complex diseases. PMID:32943643
Homozygote loss-of-function variants in the human COCH gene underlie hearing loss. PMID:32939038
Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis. PMID:32938580
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia. PMID:32938213
Annotation of Human Exome Gene Variants with Consensus Pathogenicity. PMID:32938008
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions. PMID:32937144
DeepHE: Accurately predicting human essential genes based on deep learning. PMID:32936825
Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy. PMID:32936536
The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients. PMID:32934962
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. PMID:32934225
The Landscape of Micro-Inversions Provide Clues for Population Genetic Analysis of Humans. PMID:32929667
The mutational landscape of histiocytic sarcoma associated with lymphoid malignancy. PMID:32929178
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance. PMID:32928291
Managing a Large-Scale Multiomics Project: A Team Science Case Study in Proteogenomics. PMID:32926368
ZNF423 patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalities. PMID:32925911
Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period. PMID:32923914
Subsequent Neoplasm Risk Associated With Rare Variants in DNA Damage Response and Clinical Radiation Sensitivity Syndrome Genes in the Childhood Cancer Survivor Study. PMID:32923912
Pathogenic Germline DNA Repair Gene and HOXB13 Mutations in Men With Metastatic Prostate Cancer. PMID:32923906
Primate-restricted KRAB zinc finger proteins and target retrotransposons control gene expression in human neurons. PMID:32923624
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia. PMID:32916022
A whole-genome sequenced control population in northern Sweden reveals subregional genetic differences. PMID:32915809
Personalized Clinical Decision Making Through Implementation of a Molecular Tumor Board: A German Single-Center Experience. PMID:32913998
Where Are the Disease-Associated eQTLs? PMID:32912663
Comprehensive host-pathogen protein-protein interaction network analysis. PMID:32912135
Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome. PMID:32911998
Polygenic risk for schizophrenia and subcortical brain anatomy in the UK Biobank cohort. PMID:32908133
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. PMID:32906214
International consensus recommendations on the diagnostic work-up for malformations of cortical development. PMID:32895508
Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes. PMID:32894242
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. PMID:32891193
High-throughput single-cell functional elucidation of neurodevelopmental disease-associated genes reveals convergent mechanisms altering neuronal differentiation. PMID:32887689
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. PMID:32885237
Polygenic Scores for Height in Admixed Populations. PMID:32878958
The Evolution of the Mammalian ABCA6-like Genes: Analysis of Phylogenetic, Expression, and Population Genetic Data Reveals Complex Evolutionary Histories. PMID:32877505
Identification of de novo mutations in prenatal neurodevelopment-associated genes in schizophrenia in two Han Chinese patient-sibling family-based cohorts. PMID:32873781
A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene. PMID:32873234
Pharmacogenomics to Predict Tumor Therapy Response: A Focus on ATP-Binding Cassette Transporters and Cytochromes P450. PMID:32872162
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea. PMID:32870266
Inherited Rare, Deleterious Variants in ATM Increase Lung Adenocarcinoma Risk. PMID:32866655
Human NK cell deficiency as a result of biallelic mutations in MCM10. PMID:32865517
A novel mutation resulting in keratin 1-linked palmoplantar keratoderma with epidermolytic ichthyosis. PMID:32864403
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease. PMID:32859249
Rare and novel variants of PRKN and PINK1 genes in Vietnamese patients with early-onset Parkinson's disease. PMID:32856414
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project. PMID:32853555
Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling. PMID:32853466
PSCAN: Spatial scan tests guided by protein structures improve complex disease gene discovery and signal variant detection. PMID:32847609
Variable patterns of mutation density among NaV1.1, NaV1.2 and NaV1.6 point to channel-specific functional differences associated with childhood epilepsy. PMID:32845893
Inferring clonal composition from multiple tumor biopsies. PMID:32843649
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C. PMID:32843428
Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels. PMID:32842603
Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate. PMID:32839463
Tracking the motion of the KV 1.2 voltage sensor reveals the molecular perturbations caused by a de novo mutation in a case of epilepsy. PMID:32833227
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome. PMID:32832699
Advances in Genomics for Drug Development. PMID:32824125
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy. PMID:32822602
Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome. PMID:32822427
A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans. PMID:32816001
SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants. PMID:32813752
Leukemic stem cell phenotype is associated with mutational profile in acute myeloid leukemia. PMID:32811132
Rare genetic causes of complex kidney and urological diseases. PMID:32807983
Small cell transformation of ROS1 fusion-positive lung cancer resistant to ROS1 inhibition. PMID:32802958
Computational approach towards identification of pathogenic missense mutations in AMELX gene and their possible association with amelogenesis imperfecta. PMID:32802900
Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency. PMID:32801365
Promoter CpG Density Predicts Downstream Gene Loss-of-Function Intolerance. PMID:32800095
Do damaging variants of SLC6A9, the gene for the glycine transporter 1 (GlyT-1), protect against schizophrenia? PMID:32796235
Soybean (Glycine max) Haplotype Map (GmHapMap): a universal resource for soybean translational and functional genomics. PMID:32794321
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome. PMID:32793091
Identification of Undetected Monogenic Cardiovascular Disorders. PMID:32792077
COVID-19 Compared to Other Pandemic Diseases. PMID:32792043
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. PMID:32790018
Structure of Furin Protease Binding to SARS-CoV-2 Spike Glycoprotein and Implications for Potential Targets and Virulence. PMID:32787225
Causal Genetic Variants in Stillbirth. PMID:32786180
SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo. PMID:32785571
Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis. PMID:32783359
Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer. PMID:32782288
The role of exome sequencing in newborn screening for inborn errors of metabolism. PMID:32778825
Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations. PMID:32778138
Understanding inherited risk in unselected newly diagnosed patients with endometrial cancer. PMID:32775946
The frequency and inter-relationship of PD-L1 expression and tumour mutational burden across multiple types of advanced solid tumours in China. PMID:32775040
Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer? PMID:32772980
Personalized medicine for cardiovascular diseases. PMID:32772049
A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts. PMID:32770655
Multiscale causal networks identify VGF as a key regulator of Alzheimer's disease. PMID:32770063
GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer. PMID:32769997
METAP1 mutation is a novel candidate for autosomal recessive intellectual disability. PMID:32764695
Cyclin-dependent kinases and rare developmental disorders. PMID:32762766
Determination of novel CYP2D6 haplotype using the targeted sequencing followed by the long-read sequencing and the functional characterization in the Japanese population. PMID:32759992
Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia. PMID:32759540
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm. PMID:32755546
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1. PMID:32754643
Whole Genome Sequencing of Four Representatives From the Admixed Population of the United Arab Emirates. PMID:32754195
Evolution of a Human-Specific Tandem Repeat Associated with ALS. PMID:32750315
Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease. PMID:32748548
DNA Methylation Clocks and Their Predictive Capacity for Aging Phenotypes and Healthspan. PMID:32743556
Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease. PMID:32743495
A quantitative trait rare variant nonparametric linkage method with application to age-at-onset of Alzheimer's disease. PMID:32740652
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants. PMID:32735577
Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis. PMID:32734384
Development and validation of Houston Methodist Variant Viewer version 3: updates to our application for interpretation of next-generation sequencing data. PMID:32734171
Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution. PMID:32733828
Escape from nonsense-mediated decay associates with anti-tumor immunogenicity. PMID:32733040
Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy. PMID:32732227
Uncovering Outcome Disparities of β2 Adrenergic Agonists in Blacks: A Systematic Review. PMID:32732018
Population variation in miRNAs and isomiRs and their impact on human immunity to infection. PMID:32731901
The Impact of DNA Methylation Dynamics on the Mutation Rate During Human Germline Development. PMID:32727923
PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development. PMID:32726939
Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing. PMID:32724113
Protein-Protein Interactions Mediated by Intrinsically Disordered Protein Regions Are Enriched in Missense Mutations. PMID:32722039
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum. PMID:32721402
Genome-wide detection of tandem DNA repeats that are expanded in autism. PMID:32717741
Multiplex melanoma families are enriched for polygenic risk. PMID:32716505
Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland. PMID:32714263
PertInInt: An Integrative, Analytical Approach to Rapidly Uncover Cancer Driver Genes with Perturbed Interactions and Functionalities. PMID:32711844
Presence of Genetic Variants Among Young Men With Severe COVID-19. PMID:32706371
Predicting the effect of variants on splicing using Convolutional Neural Networks. PMID:32704450
Parallel comparison and combining effect of radiomic and emerging genomic data for prognostic stratification of non-small cell lung carcinoma patients. PMID:32700470
TRIM28 congenital predisposition to Wilms' tumor: novel mutations and presentation in a sibling pair. PMID:32699065
Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population. PMID:32697297
Responsible, practical genomic data sharing that accelerates research. PMID:32694666
Computational analysis of androgen receptor (AR) variants to decipher the relationship between protein stability and related-diseases. PMID:32694570
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. PMID:32693025
Human Hepatitis B Viral Infection Outcomes Are Linked to Naturally Occurring Variants of HLA-DOA That Have Altered Function. PMID:32690655
DAZL mediates a broad translational program regulating expansion and differentiation of spermatogonial progenitors. PMID:32686646
Identifying disease-causing mutations with privacy protection. PMID:32683440
Reduced Brd1 expression leads to reversible depression-like behaviors and gene-expression changes in female mice. PMID:32681022
Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations. PMID:32679805
Integrated analysis of optical mapping and whole-genome sequencing reveals intratumoral genetic heterogeneity in metastatic lung squamous cell carcinoma. PMID:32676329
Deep learning decodes the principles of differential gene expression. PMID:32671330
Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders. PMID:32668441
Unified inference of missense variant effects and gene constraints in the human genome. PMID:32667917
Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome. PMID:32666661
Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time. PMID:32665702
GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution. PMID:32665690
Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches. PMID:32664994
New insights into genetic susceptibility of COVID-19: an ACE2 and TMPRSS2 polymorphism analysis. PMID:32664879
A coagulation defect arising from heterozygous premature termination of tissue factor. PMID:32663190
PsychENCODE and beyond: transcriptomics and epigenomics of brain development and organoids. PMID:32659782
Novel Genetic Variations in Acute Myeloid Leukemia in Pakistani Population. PMID:32655615
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. PMID:32647003
The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity. PMID:32646852
Population bias in somatic measurement of microsatellite instability status. PMID:32644297
Rheostat positions: A new classification of protein positions relevant to pharmacogenomics. PMID:32641900
Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing. PMID:32641753
MYSM1 maintains ribosomal protein gene expression in hematopoietic stem cells to prevent hematopoietic dysfunction. PMID:32641579
Mutations in the exocyst component EXOC2 cause severe defects in human brain development. PMID:32639540
Strategies for whole-exome sequencing analysis in a case series study of familial male infertility. PMID:32637866
Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue. PMID:32637635
Genetic background of ataxia in children younger than 5 years in Finland. PMID:32637629
XAF1 as a modifier of p53 function and cancer susceptibility. PMID:32637605
Evaluation of the Anti-Tumor Activity of the Humanized Monoclonal Antibody NEO-201 in Preclinical Models of Ovarian Cancer. PMID:32637350
Familial Dysalbuminemic Hyperthyroxinemia: An Underdiagnosed Entity. PMID:32635414
A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling. PMID:32633470
Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene. PMID:32628740
Biallelic mutations in ABCB1 display recurrent reversible encephalopathy. PMID:32627353
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci. PMID:32620954
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity. PMID:32619640
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands. PMID:32618053
Embracing human genetics: a primer for developmental biologists. PMID:32616565
Implementing cell-free DNA of pancreatic cancer patient-derived organoids for personalized oncology. PMID:32614802
A fully-automated method discovers loss of mouse-lethal and human-monogenic disease genes in 58 mammals. PMID:32614390
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD). PMID:32612575
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants. PMID:32612247
Loqusdb: added value of an observations database of local genomic variation. PMID:32611382
Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms. PMID:32609846
Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals. PMID:32606442
A novel VPS13B mutation in Cohen syndrome: a case report and review of literature. PMID:32605629
High mutation burden of circulating cell-free DNA in early-stage breast cancer patients is associated with a poor relapse-free survival. PMID:32602248
Genomic analyses implicate noncoding de novo variants in congenital heart disease. PMID:32601476
The frontiers of sequencing in undiagnosed neurodevelopmental diseases. PMID:32599523
Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia. PMID:32597037
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. PMID:32596782
Genetic Diversity and Low Stratification of the Population of the United Arab Emirates. PMID:32595703
Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder. PMID:32587608
Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment. PMID:32585897
Whole-genome sequencing of patients with rare diseases in a national health system. PMID:32581362
Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics. PMID:32581134
Video game ventricular tachycardia: The "Fortnite" phenomenon. PMID:32577384
Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy. PMID:32576952
WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways. PMID:32576942
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. PMID:32573726
The transcription factor Maz is essential for normal eye development. PMID:32571845
A Bayesian method to estimate variant-induced disease penetrance. PMID:32569262
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. PMID:32568404
Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome. PMID:32566746
Germline mutations in MEN1 are associated with the tumorigenesis of pituitary adenoma associated with meningioma. PMID:32565981
Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum. PMID:32565670
Genomic profiling of late-onset basal cell carcinomas from two brothers with nevoid basal cell carcinoma syndrome. PMID:32564428
A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction. PMID:32561755
Genetic variability of human angiotensin-converting enzyme 2 (hACE2) among various ethnic populations. PMID:32558308
The genomic and epigenomic evolutionary history of papillary renal cell carcinomas. PMID:32555180
Coexpression enrichment analysis at the single-cell level reveals convergent defects in neural progenitor cells and their cell-type transitions in neurodevelopmental disorders. PMID:32554779
VitiVar: A locus specific database of vitiligo associated genes and variations. PMID:32550548
Neuropathy-associated histidyl-tRNA synthetase variants attenuate protein synthesis in vitro and disrupt axon outgrowth in developing zebrafish. PMID:32543048
Reply: ATP10B and the risk for Parkinson's disease. PMID:32542503
Dynamic rewiring of the human interactome by interferon signaling. PMID:32539747
High-Throughput Reclassification of SCN5A Variants. PMID:32533946
Clonal hematopoiesis is associated with adverse outcomes in multiple myeloma patients undergoing transplant. PMID:32533060
A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation. PMID:32532882
Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant. PMID:32532881
De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes. PMID:32528716
Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome. PMID:32528524
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. PMID:32528171
Tissue- and development-stage-specific mRNA and heterogeneous CNV signatures of human ribosomal proteins in normal and cancer samples. PMID:32525984
Properties of structural variants and short tandem repeats associated with gene expression and complex traits. PMID:32522982
High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1. PMID:32522694
RECQ1 Helicase in Genomic Stability and Cancer. PMID:32517021
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation. PMID:32515017
Unravelling the complex genetics of common kidney diseases: from variants to mechanisms. PMID:32514149
Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model? PMID:32514133
Polygenic analysis of the effect of common and low-frequency genetic variants on serum uric acid levels in Korean individuals. PMID:32514006
Non-canonical RNA-DNA differences and other human genomic features are enriched within very short tandem repeats. PMID:32511223
Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency. PMID:32506365
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures. PMID:32504544
Mutational bias and the protein code shape the evolution of splicing enhancers. PMID:32504065
Kirrel3-Mediated Synapse Formation Is Attenuated by Disease-Associated Missense Variants. PMID:32503885
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons. PMID:32503625
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress. PMID:32500975
Evidence of a Recessively Inherited CCN3 Mutation as a Rare Cause of Early-Onset Parkinsonism. PMID:32499748
A positively selected FBN1 missense variant reduces height in Peruvian individuals. PMID:32499652
Identification of type 2 diabetes loci in 433,540 East Asian individuals. PMID:32499647
Whole-genome sequencing of a sporadic primary immunodeficiency cohort. PMID:32499645
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation. PMID:32499606
SNPnexus: a web server for functional annotation of human genome sequence variation (2020 update). PMID:32496546
Dental malformations associated with biallelic MMP20 mutations. PMID:32495503
A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer. PMID:32492864
FGFR4: A promising therapeutic target for breast cancer and other solid tumors. PMID:32492514
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription. PMID:32492392
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. PMID:32487729
Brazilian cohort and genes encoding for drug-metabolizing enzymes and drug transporters. PMID:32486903
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide. PMID:32486089
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. PMID:32484799
Analysis of GWAS-Derived Schizophrenia Genes for Links to Ischemia-Hypoxia Response of the Brain. PMID:32477182
Genetic testing strategies in the newborn. PMID:32472107
Sentinel interaction mapping - a generic approach for the functional analysis of human disease gene variants using yeast. PMID:32471850
Ancestry-specific predisposing germline variants in cancer. PMID:32471518
Population genetic models of GERP scores suggest pervasive turnover of constrained sites across mammalian evolution. PMID:32469868
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia. PMID:32467598
A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer. PMID:32467344
NIPT Technique Based on the Use of Long Chimeric DNA Reads. PMID:32466452
Association Analysis and Meta-Analysis of Multi-Allelic Variants for Large-Scale Sequence Data. PMID:32466134
An osteocalcin-deficient mouse strain without endocrine abnormalities. PMID:32463812
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes. PMID:32463623
The effect of LRRK2 loss-of-function variants in humans. PMID:32461697
Transcript expression-aware annotation improves rare variant interpretation. PMID:32461655
The mutational constraint spectrum quantified from variation in 141,456 humans. PMID:32461654
Evaluating drug targets through human loss-of-function genetic variation. PMID:32461653
A structural variation reference for medical and population genetics. PMID:32461652
Thousands of human sequences provide deep insight into single genomes. PMID:32461645
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. PMID:32461616
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. PMID:32461613
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate. PMID:32460883
Mapping and characterization of structural variation in 17,795 human genomes. PMID:32460305
WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition. PMID:32459922
Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification. PMID:32458740
Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease. PMID:32457982
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families. PMID:32457805
Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant. PMID:32454992
Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa. PMID:32454406
Genomic analysis of the natural history of attention-deficit/hyperactivity disorder using Neanderthal and ancient Homo sapiens samples. PMID:32451437
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer. PMID:32443704
Exome-Wide Analysis of the DiscovEHR Cohort Reveals Novel Candidate Pharmacogenomic Variants for Clinical Pharmacogenomics. PMID:32443490
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas. PMID:32442410
The contribution of rare genetic variants to the pathogenesis of polycystic ovary syndrome. PMID:32440573
TraPS-VarI: Identifying genetic variants altering phosphotyrosine based signalling motifs. PMID:32439998
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features. PMID:32439808
A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder. PMID:32439764
ATRAID regulates the action of nitrogen-containing bisphosphonates on bone. PMID:32434850
Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities. PMID:32433464
Preliminary study on the function of the POLD1 (CDC2) EXON2 c.56G>A mutation. PMID:32432416
Exome sequencing in genetic disease: recent advances and considerations. PMID:32431803
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome. PMID:32431610
Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay. PMID:32431071
Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA). PMID:32430494
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome. PMID:32429735
SinoDuplex: An Improved Duplex Sequencing Approach to Detect Low-frequency Variants in Plasma cfDNA Samples. PMID:32428603
Genome-wide association studies of cardiac electrical phenotypes. PMID:32428210
Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women. PMID:32427313
Defined lifestyle and germline factors predispose Asian populations to gastric cancer. PMID:32426482
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome. PMID:32424618
Quantifying genetic effects on disease mediated by assayed gene expression levels. PMID:32424349
Heterologous Expression and Functional Characterization of Novel CYP2C9 Variants Identified in the Alaska Native People. PMID:32423989
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity. PMID:32421718
Germline variant burden in cancer genes correlates with age at diagnosis and somatic mutation burden. PMID:32415133
Genotype-phenotype analysis of LMNA-related diseases predicts phenotype-selective alterations in lamin phosphorylation. PMID:32413188
Mutation severity spectrum of rare alleles in the human genome is predictive of disease type. PMID:32413045
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers. PMID:32412666
Novel and prevalent non-East Asian ALDH2 variants; Implications for global susceptibility to aldehydes' toxicity. PMID:32403082
MISCAST: MIssense variant to protein StruCture Analysis web SuiTe. PMID:32402084
Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency. PMID:32400513
Clinical characterization of patients with leucine-rich repeat kinase 2 genetic variants in Japan. PMID:32398759
Pairwise common variant meta-analyses of schizophrenia with other psychiatric disorders reveals shared and distinct gene and gene-set associations. PMID:32398653
Myeloproliferative Diseases as Possible Risk Factor for Development of Chronic Thromboembolic Pulmonary Hypertension-A Genetic Study. PMID:32397294
Comprehensive Analysis of Genetic Ancestry and Its Molecular Correlates in Cancer. PMID:32396860
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1. PMID:32395406
PedMiner: a tool for linkage analysis-based identification of disease-associated variants using family based whole-exome sequencing data. PMID:32393981
Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning. PMID:32386536
A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease. PMID:32383294
Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer. PMID:32383162
Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort. PMID:32382504
Human Prehistoric Demography Revealed by the Polymorphic Pattern of CpG Transitions. PMID:32369585
Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma. PMID:32369491
Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation. PMID:32368002
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage. PMID:32367296
Effects of Mu-Opiate Receptor Gene Polymorphism rs1799971 (A118G) on the Antidepressant and Dissociation Responses in Esketamine Nasal Spray Clinical Trials. PMID:32367114
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. PMID:32367058
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy. PMID:32366965
Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK. PMID:32363625
Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report. PMID:32362910
Machine learning, the kidney, and genotype-phenotype analysis. PMID:32359808
BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases. PMID:32359370
A novel neurodegenerative spectrum disorder in patients with MLKL deficiency. PMID:32358523
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals. PMID:32355288
Host genetic susceptibility to mycetoma. PMID:32352976
LIST-S2: taxonomy based sorting of deleterious missense mutations across species. PMID:32352516
Reference exome data for Australian Aboriginal populations to support health-based research. PMID:32350262
Translating insights from neuropsychiatric genetics and genomics for precision psychiatry. PMID:32349784
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. PMID:32349777
Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History. PMID:32347951
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate. PMID:32347641
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. PMID:32346159
Contribution of common and rare damaging variants in familial forms of bipolar disorder and phenotypic outcome. PMID:32345981
Proteogenomics analysis unveils a TFG-RET gene fusion and druggable targets in papillary thyroid carcinomas. PMID:32345963
Methodological differences can affect sequencing depth with a possible impact on the accuracy of genetic diagnosis. PMID:32343762
Novel Pathogenic Variant in the Cys110 Residue: A Genotype-Phenotype Report of a Patient with Norrie Disease. PMID:32341821
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms. PMID:32341456
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data. PMID:32340307
Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay. PMID:32338762
VarFish: comprehensive DNA variant analysis for diagnostics and research. PMID:32338743
Loss of the Fanconi anemia-associated protein NIPA causes bone marrow failure. PMID:32338640
A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58. PMID:32337552
Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective. PMID:32337335
Clinical impact of splicing in neurodevelopmental disorders. PMID:32331533
Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases. PMID:32330418
Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis. PMID:32327693
A Novel Cosegregating DCTN1 Splice Site Variant in a Family with Bipolar Disorder May Hold the Key to Understanding the Etiology. PMID:32325768
Mammalian SWI/SNF Complex Genomic Alterations and Immune Checkpoint Blockade in Solid Tumors. PMID:32321774
De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders. PMID:32321736
Gene therapy for inherited arrhythmias. PMID:32321160
Partial loss of CFIm25 causes learning deficits and aberrant neuronal alternative polyadenylation. PMID:32319885
Application of magnetic nanoparticles in nucleic acid detection. PMID:32316985
Discovery and characterization of targetable NTRK point mutations in hematologic neoplasms. PMID:32315394
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes. PMID:32313182
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. PMID:32312822
Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria. PMID:32311027
Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing? PMID:32306808
Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction. PMID:32303876
Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance. PMID:32300648
Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function. PMID:32299908
A reference map of the human binary protein interactome. PMID:32296183
Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia. PMID:32296054
Molecular Analysis of Clinically Defined Subsets of High-Grade Serous Ovarian Cancer. PMID:32294438
Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans. PMID:32294086
Using human pluripotent stem cell models to study autism in the era of big data. PMID:32293529
Prot2HG: a database of protein domains mapped to the human genome. PMID:32293014
Single-cell transcriptomics identifies an effectorness gradient shaping the response of CD4+ T cells to cytokines. PMID:32286271
Chloride channels regulate differentiation and barrier functions of the mammalian airway. PMID:32286221
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. PMID:32282878
Meta-analysis of cardiomyopathy-associated variants in troponin genes identifies loci and intragenic hot spots that are associated with worse clinical outcomes. PMID:32278834
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. PMID:32275884
Autosomal Dominant Tubulointerstitial Kidney Disease-Uromodulin Misclassified as Focal Segmental Glomerulosclerosis or Hereditary Glomerular Disease. PMID:32274456
SAAMBE-3D: Predicting Effect of Mutations on Protein-Protein Interactions. PMID:32272725
Phenogenon: Gene to phenotype associations for rare genetic diseases. PMID:32271766
Exploring Biologic Predictors Response Disparities to Atypical Antipsychotics among Blacks: A Quasi-Systematic Review. PMID:32269465
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes. PMID:32268277
Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex. PMID:32268104
MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism. PMID:32267091
Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease. PMID:32265282
Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis. PMID:32264896
On the relations of phase separation and Hi-C maps to epigenetics. PMID:32257349
Germline burden of rare damaging variants negatively affects human healthspan and lifespan. PMID:32254024
Phase I Trial of Trametinib with Neoadjuvant Chemoradiation in Patients with Locally Advanced Rectal Cancer. PMID:32253228
The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia. PMID:32252761
8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer. PMID:32251286
Structural variations in human ACE2 may influence its binding with SARS-CoV-2 spike protein. PMID:32249956
Comprehensive assessment of PINK1 variants in Parkinson's disease. PMID:32249012
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration. PMID:32246154
Translational derepression of Elavl4 isoforms at their alternative 5' UTRs determines neuronal development. PMID:32245946
MI-MAAP: marker informativeness for multi-ancestry admixed populations. PMID:32245404
Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing. PMID:32244554
A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y. PMID:32243781
Loss-of-function tolerance of enhancers in the human genome. PMID:32243438
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes. PMID:32242007
Somatic synonymous mutations in regulatory elements contribute to the genetic aetiology of melanoma. PMID:32241263
Understanding oncogenicity of cancer driver genes and mutations in the cancer genomics era. PMID:32239503
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. PMID:32238909
Upregulation of Protein Synthesis and Proteasome Degradation Confers Sensitivity to Proteasome Inhibitor Bortezomib in Myc-Atypical Teratoid/Rhabdoid Tumors. PMID:32235770
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases. PMID:32232970
Thousands of missing variants in the UK Biobank are recoverable by genome realignment. PMID:32232836
A population-based approach for gene prioritization in understanding complex traits. PMID:32232557
Detection of Circulating Tumor DNA in Patients With Uterine Leiomyomas. PMID:32232185
Revisiting the Population Genetics of Human Height. PMID:32232182
Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era. PMID:32231685
When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS). PMID:32231217
The genome-wide landscape of C:G > T:A polymorphism at the CpG contexts in the human population. PMID:32228436
CACNA1H variants are not a cause of monogenic epilepsy. PMID:32227660
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida. PMID:32224865
Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases. PMID:32223758
Recruiting diversity where it exists: The Alabama Genomic Health Initiative. PMID:32220047
Aberrant Expressions and Variant Screening of SEMA3D in Indonesian Hirschsprung Patients. PMID:32219083
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism. PMID:32211515
Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing. PMID:32211398
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families. PMID:32209057
Ethnogeographic and inter-individual variability of human ABC transporters. PMID:32206879
The prognostic significance of immune microenvironment in breast ductal carcinoma in situ. PMID:32203210
Precision medicine - networks to the rescue. PMID:32199228
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. PMID:32197074
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. PMID:32196822
The genetic architecture of breast papillary lesions as a predictor of progression to carcinoma. PMID:32195332
The cartilage matrisome in adolescent idiopathic scoliosis. PMID:32195011
Allele-specific genome targeting in the development of precision medicine. PMID:32194858
webGQT: A Shiny Server for Genotype Query Tools for Model-Based Variant Filtering. PMID:32194629
Novel Mutations and Decreased Expression of the Epigenetic Regulator TET2 in Pulmonary Arterial Hypertension. PMID:32192357
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis. PMID:32185393
Second-trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray. PMID:32185046
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders. PMID:32183904
Variant effect predictions capture some aspects of deep mutational scanning experiments. PMID:32183714
Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer. PMID:32183364
Computational Detection of Known Pathogenic Gene Fusions in a Normal Tissue Database and Implications for Genetic Disease Research. PMID:32180803
Clinical Interpretation of Sequence Variants. PMID:32176464
LEAP: Using machine learning to support variant classification in a clinical setting. PMID:32176384
Phylogenetic Modeling of Regulatory Element Turnover Based on Epigenomic Data. PMID:32176292
The RAD52 S346X variant reduces risk of developing breast cancer in carriers of pathogenic germline BRCA2 mutations. PMID:32175645
A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia. PMID:32175296
Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of Glycosylation. PMID:32174980
Single Amino Acid Changes in the Ryanodine Receptor in the Human Population Have Effects In Vivo on Caenorhabditis elegans Neuro-Muscular Function. PMID:32174957
The R278I Mutation of PSEN1 in the Familial Alzheimer Disease. PMID:32174048
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke. PMID:32172663
Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export. PMID:32172343
Nucleosome positioning stability is a modulator of germline mutation rate variation across the human genome. PMID:32170069
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network. PMID:32170000
Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants. PMID:32169219
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. PMID:32169171
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. PMID:32169168
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants. PMID:32168371
Cystic renal-epithelial derived induced pluripotent stem cells from polycystic kidney disease patients. PMID:32163234
Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS). PMID:32161841
Detection of Marker-Free Precision Genome Editing and Genetic Variation through the Capture of Genomic Signatures. PMID:32160537
Problems in variation interpretation guidelines and in their implementation in computational tools. PMID:32160417
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia. PMID:32160374
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability. PMID:32157189
Gene discoveries in autism are biased towards comorbidity with intellectual disability. PMID:32152248
Systematic Establishment of Robustness and Standards in Patient-Derived Xenograft Experiments and Analysis. PMID:32152150
Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure. PMID:32152063
Regulation of gene expression by growth hormone. PMID:32151566
A decision tree to improve identification of pathogenic mutations in clinical practice. PMID:32151256
Inherited Renal Tubulopathies-Challenges and Controversies. PMID:32150856
Clonal hematopoiesis predicts development of therapy-related myeloid neoplasms post-autologous stem cell transplantation. PMID:32150606
Identification of germline variants in adults with hemophagocytic lymphohistiocytosis. PMID:32150605
A putative silencer variant in a spontaneous canine model of retinitis pigmentosa. PMID:32150541
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease. PMID:32150337
Identification of Structural Variation in Chimpanzees Using Optical Mapping and Nanopore Sequencing. PMID:32143403
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome. PMID:32141698
mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly. PMID:32140648
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants. PMID:32138288
Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome. PMID:32133772
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes. PMID:32133419
Topoisomerase 2β mutation impairs early B-cell development. PMID:32128574
Integrative analysis of the genomic and transcriptomic landscape of double-refractory multiple myeloma. PMID:32126144
Protein Subdomain Enrichment of NUP155 Variants Identify a Novel Predicted Pathogenic Hotspot. PMID:32118046
A Connected Network of Interacting Proteins Is Involved in Human-Tau Toxicity in Drosophila. PMID:32116515
The genetics of situs inversus without primary ciliary dyskinesia. PMID:32111882
High-Throughput Screening of Blood Donors for Twelve Human Platelet Antigen Systems Using Next-Generation Sequencing Reveals Detection of Rare Polymorphisms and Two Novel Protein-Changing Variants. PMID:32110192
Defining Blood Group Gene Reference Alleles by Long-Read Sequencing: Proof of Concept in the ACKR1 Gene Encoding the Duffy Antigens. PMID:32110191
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. PMID:32109420
Tumor Mutational Burden From Tumor-Only Sequencing Compared With Germline Subtraction From Paired Tumor and Normal Specimens. PMID:32108894
Cancer-associated mutations in the ribosomal protein L5 gene dysregulate the HDM2/p53-mediated ribosome biogenesis checkpoint. PMID:32108164
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. PMID:32103185
Rhapsody: predicting the pathogenicity of human missense variants. PMID:32101277
Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion. PMID:32101163
Variant R94C in TNNT2-Encoded Troponin T Predisposes to Pediatric Restrictive Cardiomyopathy and Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction. PMID:32098556
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. PMID:32097630
Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5. PMID:32097629
Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates. PMID:32094344
Two Novel FAM20C Variants in A Family with Raine Syndrome. PMID:32093234
The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort. PMID:32091585
Whole-Exome Sequencing Reveals a Rare Missense Variant in SLC16A9 in a Pedigree with Early-Onset Gout. PMID:32090094
Passenger Mutations in More Than 2,500 Cancer Genomes: Overall Molecular Functional Impact and Consequences. PMID:32084333
Genetic alterations of malignant pleural mesothelioma: association with tumor heterogeneity and overall survival. PMID:32083805
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. PMID:32083401
Clinically Actionable Insights into Initial and Matched Recurrent Glioblastomas to Inform Novel Treatment Approaches. PMID:32082376
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray. PMID:32081867
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. PMID:32081864
Cytosine Methylation Affects the Mutability of Neighboring Nucleotides in Germline and Soma. PMID:32079595
RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy. PMID:32079122
A novel nicastrin mutation in a three-generation Dutch family with hidradenitis suppurativa: a search for functional significance. PMID:32078194
A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1. PMID:32077105
Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer. PMID:32075053
Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic. PMID:32071833
ViroPanel: Hybrid Capture and Massively Parallel Sequencing for Simultaneous Detection and Profiling of Oncogenic Virus Infection and Tumor Genome. PMID:32068070
Exome Sequencing in Individuals with Isolated Biliary Atresia. PMID:32066793
Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families. PMID:32066727
Genomic prediction of alcohol-related morbidity and mortality. PMID:32066667
The pan-cancer landscape of prognostic germline variants in 10,582 patients. PMID:32066500
NOX1 Regulates Collective and Planktonic Cell Migration: Insights From Patients With Pediatric-Onset IBD and NOX1 Deficiency. PMID:32064493
Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant? PMID:32055014
Excess of singleton loss-of-function variants in Parkinson's disease contributes to genetic risk. PMID:32054687
Context-Dependent Gene Regulation by Homeodomain Transcription Factor Complexes Revealed by Shape-Readout Deficient Proteins. PMID:32053778
SuperFreq: Integrated mutation detection and clonal tracking in cancer. PMID:32053599
NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models. PMID:32053595
Novel Mutation Hotspots within Non-Coding Regulatory Regions of the Chronic Lymphocytic Leukemia Genome. PMID:32051441
Circulating Tumor DNA Analysis to Assess Risk of Progression after Long-term Response to PD-(L)1 Blockade in NSCLC. PMID:32046999
Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies. PMID:32046290
Analysis of common and rare VPS13C variants in late-onset Parkinson disease. PMID:32042909
Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders. PMID:32042908
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias. PMID:32041611
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia. PMID:32040484
A mutation map for human glycoside hydrolase genes. PMID:32039448
Targeted Sequencing and RNA Assay Reveal a Noncanonical JAG1 Splicing Variant Causing Alagille Syndrome. PMID:32038717
Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children. PMID:32034166
pCADD: SNV prioritisation in Sus scrofa. PMID:32033531
Enhancer Domains Predict Gene Pathogenicity and Inform Gene Discovery in Complex Disease. PMID:32032514
Modifier genes in SCN1A-related epilepsy syndromes. PMID:32032478
Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage. PMID:32029882
Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors. PMID:32029870
Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389. PMID:32027664
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. PMID:32027066
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. PMID:32022462
Probing the mutational landscape of regulators of G protein signaling proteins in cancer. PMID:32019900
AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting. PMID:32019565
Identification of cancer driver genes based on nucleotide context. PMID:32015527
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy. PMID:32014492
Genomic Landscape of Young-Onset Bladder Cancer and Its Prognostic Implications on Adult Bladder Cancer. PMID:32012866
A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families. PMID:32011687
Human and mouse essentiality screens as a resource for disease gene discovery. PMID:32005800
Genome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic Anemia. PMID:32004448
CYP2C9 and CYP2C19: Deep Mutational Scanning and Functional Characterization of Genomic Missense Variants. PMID:32004414
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. PMID:32001716
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase. PMID:32000841
Usefulness of rapid on-site evaluation specimens from endoscopic ultrasound-guided fine-needle aspiration for cancer gene panel testing: A retrospective study. PMID:31999789
Whole Exome Sequencing Study of Parkinson Disease and Related Endophenotypes in the Italian Population. PMID:31998221
A Novel Loss-of-Function Variant in the Chloride Ion Channel Gene Clcn2 Associates with Atrial Fibrillation. PMID:31996765
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients. PMID:31996269
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies. PMID:31996268
Quality of whole genome sequencing from blood versus saliva derived DNA in cardiac patients. PMID:31996208
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts. PMID:31992710
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases. PMID:31991861
Camptocormia as a Novel Phenotype in a Heterozygous POLG2 Mutation. PMID:31991853
Integrative analysis reveals RNA G-quadruplexes in UTRs are selectively constrained and enriched for functional associations. PMID:31988292
Human polymorphisms in GSDMD alter the inflammatory response. PMID:31988247
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. PMID:31988067
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome. PMID:31983240
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy. PMID:31983221
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. PMID:31981491
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis. PMID:31980905
In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification. PMID:31979111
Murine Surf4 is essential for early embryonic development. PMID:31978056
Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies. PMID:31976583
Misannotation of multiple-nucleotide variants risks misdiagnosis. PMID:31976378
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly. PMID:31974348
Consequences of mutations in the genes of the ER export machinery COPII in vertebrates. PMID:31970693
Germline cancer predisposition variants and pediatric glioma: a population-based study in California. PMID:31970404
T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency. PMID:31965418
Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects. PMID:31964908
Polymorphisms in dipeptidyl peptidase 4 reduce host cell entry of Middle East respiratory syndrome coronavirus. PMID:31964246
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development. PMID:31962012
Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy. PMID:31962008
Genome-Wide Natural Selection Signatures Are Linked to Genetic Risk of Modern Phenotypes in the Japanese Population. PMID:31957793
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. PMID:31957018
Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts. PMID:31954538
PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly. PMID:31950080
Next-generation sequencing identified genetic variations in families with fetal non-syndromic atrioventricular septal defects. PMID:31949757
Clinical relevance of somatic mutations in main driver genes detected in gastric cancer patients by next-generation DNA sequencing. PMID:31949278
Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics. PMID:31947757
A research-driven approach to the identification of novel natural killer cell deficiencies affecting cytotoxic function. PMID:31945148
SPECC1L regulates palate development downstream of IRF6. PMID:31943082
Human iPSC-derived Down syndrome astrocytes display genome-wide perturbations in gene expression, an altered adhesion profile, and increased cellular dynamics. PMID:31943018
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades. PMID:31942019
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways. PMID:31941532
An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition. PMID:31941373
Evidence for penetrance in patients without a family history of disease: a systematic review. PMID:31937893
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels. PMID:31937788
A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance. PMID:31934554
Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations. PMID:31932770
De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia. PMID:31932766
The pathogenic AGT c.856+1G>T mutation of a patient with multiple renal cysts and hypertension. PMID:31930100
Somatic genetic aberrations in gallbladder cancer: comparison between Chinese and US patients. PMID:31929987
Cell-free DNA donor fraction analysis in pediatric and adult heart transplant patients by multiplexed allele-specific quantitative PCR: Validation of a rapid and highly sensitive clinical test for stratification of rejection probability. PMID:31929557
Genomic profiling of multiple breast cancer reveals inter-lesional heterogeneity. PMID:31929516
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. PMID:31928709
Deep Mutational Scan of an SCN5A Voltage Sensor. PMID:31928070
A Targeted Next Generation Sequencing Panel for Non-syndromic Early Onset Severe Obesity and Identification of Novel Likely -Pathogenic Variants in the MC4R and LEP Genes. PMID:31925720
Cold-induced urticarial autoinflammatory syndrome related to factor XII activation. PMID:31924766
Exome Sequencing Identifies Susceptibility Loci for Sarcoidosis Prognosis. PMID:31921204
From Clinical Phenotype to Genotypic Modelling: Incidence and Prevalence of Recessive Dystrophic Epidermolysis Bullosa (RDEB). PMID:31920360
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing. PMID:31919451
Whole-Genome Sequencing of Finnish Type 1 Diabetic Siblings Discordant for Kidney Disease Reveals DNA Variants associated with Diabetic Nephropathy. PMID:31919106
A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts. PMID:31916079
A brief history of human disease genetics. PMID:31915397
Natural and pathogenic protein sequence variation affecting prion-like domains within and across human proteomes. PMID:31914925
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases. PMID:31914217
Analysis pipelines for cancer genome sequencing in mice. PMID:31907453
THAP11F80L cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferation. PMID:31905202
Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida. PMID:31898828
The application of big data to cardiovascular disease: paths to precision medicine. PMID:31895052
Estrogen activates Alzheimer's disease genes. PMID:31890855
Pharmacogenomic network analysis of the gene-drug interaction landscape underlying drug disposition. PMID:31890144
Genome analysis and knowledge-driven variant interpretation with TGex. PMID:31888639
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes. PMID:31888296
Genomic variant sharing: a position statement. PMID:31886409
Application of Computational Biology and Artificial Intelligence Technologies in Cancer Precision Drug Discovery. PMID:31886259
Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers. PMID:31880413
Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations. PMID:31879567
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy. PMID:31878136
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4. PMID:31877759
VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia. PMID:31876103
Comparison of somatic variant detection algorithms using Ion Torrent targeted deep sequencing data. PMID:31874647
Autism risk in offspring can be assessed through quantification of male sperm mosaicism. PMID:31873310
When moments matter: Finding answers with rapid exome sequencing. PMID:31872981
Identification of pathogenic variant enriched regions across genes and gene families. PMID:31871067
Targeted sequencing of histologically defined serous endometrial cancer reflects prognosis and correlates with preoperative biopsy. PMID:31867434
Characterization of Human Dosage-Sensitive Transcription Factor Genes. PMID:31867040
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. PMID:31866047
The MASTiFF panel-a versatile multiple-allele SNP test for forensics. PMID:31863187
Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation. PMID:31862013
Practical Aspects in Genetic Testing for Cardiomyopathies and Channelopathies. PMID:31857740
A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma. PMID:31857723
Structural diversity in the atomic resolution 3D fingerprint of the titin M-band segment. PMID:31856237
A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases. PMID:31853824
A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy). PMID:31852952
Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases. PMID:31852928
Population History and Gene Divergence in Native Mexicans Inferred from 76 Human Exomes. PMID:31848607
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. PMID:31844327
Loss of ADAMTS19 causes progressive non-syndromic heart valve disease. PMID:31844321
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma. PMID:31844177
SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes. PMID:31844174
Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children. PMID:31841498
Ubiquitously Expressed Proteins and Restricted Phenotypes: Exploring Cell-Specific Sensitivities to Impaired tRNA Charging. PMID:31839378
Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms. PMID:31836783
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles. PMID:31836585
FSTL-1 Attenuation Causes Spontaneous Smoke-Resistant Pulmonary Emphysema. PMID:31834999
Lack of association between interleukin-22 gene polymorphisms and cancer risk: a case-control study and a meta-analysis. PMID:31832882
Using mechanistic models for the clinical interpretation of complex genomic variation. PMID:31831811
Candidate modifier genes for immune function in 22q11.2 deletion syndrome. PMID:31830774
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype. PMID:31829238
BMP10-mediated ALK1 signaling is continuously required for vascular development and maintenance. PMID:31828546
Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism. PMID:31827253
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families. PMID:31827252
Finnish Parkinson's disease study integrating protein-protein interaction network data with exome sequencing analysis. PMID:31827228
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations. PMID:31826312
A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes. PMID:31825128
Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome. PMID:31824749
Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome. PMID:31822864
Characterization of novel genetic alterations in salivary gland secretory carcinoma. PMID:31822803
Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer. PMID:31822495
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. PMID:31820119
CSNK2A1 Promotes Gastric Cancer Invasion Through the PI3K-Akt-mTOR Signaling Pathway. PMID:31819646
The functional landscape of the human phosphoproteome. PMID:31819260
Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes. PMID:31815736
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A. PMID:31814998
Structural basis of ligand selectivity and disease mutations in cysteinyl leukotriene receptors. PMID:31811124
PsyMuKB: An Integrative De Novo Variant Knowledge Base for Developmental Disorders. PMID:31809863
Identification of African-Specific Admixture between Modern and Archaic Humans. PMID:31809748
Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis. PMID:31806906
Cardioinformatics: the nexus of bioinformatics and precision cardiology. PMID:31802103
The GenomeAsia 100K Project enables genetic discoveries across Asia. PMID:31802016
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants. PMID:31801603
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism. PMID:31799629
Artificial intelligence for precision medicine in neurodevelopmental disorders. PMID:31799421
miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes. PMID:31798637
Genetics and functions of the retinoic acid pathway, with special emphasis on the eye. PMID:31796115
Analysis of the Whole-Exome Sequencing of Tumor and Circulating Tumor DNA in Metastatic Melanoma. PMID:31795494
Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype. PMID:31792352
Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function. PMID:31787869
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders. PMID:31785789
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β. PMID:31784499
Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's disease. PMID:31784483
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). PMID:31782611
A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect. PMID:31782267
Mutation Profiling of Premalignant Colorectal Neoplasia. PMID:31781186
Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing. PMID:31779139
A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome. PMID:31777725
Dramatic increase in gene mutational burden after transformation of follicular lymphoma into TdT+ B-lymphoblastic leukemia/lymphoma. PMID:31776129
Identification and ranking of recurrent neo-epitopes in cancer. PMID:31775766
Mx genes: host determinants controlling influenza virus infection and trans-species transmission. PMID:31773252
Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes. PMID:31772163
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism. PMID:31771860
Current and future advances in genetic testing in systemic autoinflammatory diseases. PMID:31769854
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. PMID:31769566
Update on KMT2B-Related Dystonia. PMID:31768667
Returning incidental findings in African genomics research. PMID:31768070
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants. PMID:31768066
Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants. PMID:31768057
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. PMID:31768050
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients. PMID:31767933
A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease. PMID:31767637
Characterization of Single Gene Copy Number Variants in Schizophrenia. PMID:31767120
I3: A Self-organising Learning Workflow for Intuitive Integrative Interpretation of Complex Genetic Data. PMID:31765831
VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants. PMID:31765830
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions. PMID:31765389
Molecular characterization of lung adenocarcinoma from Korean patients using next generation sequencing. PMID:31765373
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure. PMID:31765060
Applications and analysis of targeted genomic sequencing in cancer studies. PMID:31762958
Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals. PMID:31760949
Transethnic associations among immune-mediated diseases and single-nucleotide polymorphisms of the aryl hydrocarbon response gene ARNT and the PTPN22 immune regulatory gene. PMID:31759816
Primary hepatocellular adenoma due to biallelic HNF1A mutations and its co-occurrence with MODY 3: case-report and review of the literature. PMID:31754975
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. PMID:31754459
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties. PMID:31754268
Personalised analytics for rare disease diagnostics. PMID:31754101
Modeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation. PMID:31754021
Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar. PMID:31752965
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants. PMID:31752325
LIN28A loss of function is associated with Parkinson's disease pathogenesis. PMID:31750563
Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing. PMID:31749832
C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome. PMID:31749804
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD). PMID:31748968
Contribution of rare coding mutations in CD36 to type 2 diabetes and cardio-metabolic complications. PMID:31748580
The genomic landscape of metastatic castration-resistant prostate cancers reveals multiple distinct genotypes with potential clinical impact. PMID:31748536
Integrin-linked kinase controls retinal angiogenesis and is linked to Wnt signaling and exudative vitreoretinopathy. PMID:31748531
Ranking of non-coding pathogenic variants and putative essential regions of the human genome. PMID:31748530
Identifying genetic variants underlying medication-induced osteonecrosis of the jaw in cancer and osteoporosis: a case control study. PMID:31747953
Structural variant calling: the long and the short of it. PMID:31747936
A causal role for TRESK loss of function in migraine mechanisms. PMID:31742594
Melanocortin 4 Receptor Gene Sequence Analyses in Diverse Populations. PMID:31742438
Studying Brugada Syndrome With an SCN1B Variants in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes. PMID:31737628
Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice. PMID:31735294
Exome-chip association analysis of intracranial aneurysms. PMID:31732565
A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity. PMID:31731663
Structural variation in the sequencing era. PMID:31729472
Rare Genetic Variants Associated With Sudden Cardiac Death in Adults. PMID:31727422
The neXtProt knowledgebase in 2020: data, tools and usability improvements. PMID:31724716
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. PMID:31723249
Clinical and genetic variability in children with partial albinism. PMID:31719542
How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study. PMID:31719132
Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq. PMID:31719124
Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect. PMID:31718026
In Silico Study of Rett Syndrome Treatment-Related Genes, MECP2, CDKL5, and FOXG1, by Evolutionary Classification and Disordered Region Assessment. PMID:31717404
Sudden cardiac death and ethnicity. PMID:31712362
Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency. PMID:31709144
Sudden unexpected death in asymptomatic infants due to PPA2 variants. PMID:31705601
Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy. PMID:31705293
Fine-Mapping Array Design for Multi-Ethnic Studies of Multiple Sclerosis. PMID:31703377
Children with vesicoureteric reflux have joint hypermobility and occasional tenascin XB sequence variants. PMID:31702543
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. PMID:31700994
Targeted resequencing identifies genes with recurrent variation in cerebral palsy. PMID:31700678
Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with breast cancer. PMID:31700649
High-mobility group nucleosomal binding domain 2 protects against microcephaly by maintaining global chromatin accessibility during corticogenesis. PMID:31699896
The neural stem cell/carnitine malnutrition hypothesis: new prospects for effective reduction of autism risk? PMID:31699893
Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome. PMID:31697235
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways. PMID:31696992
Rare compound heterozygous missense SPATA7 variations and risk of schizophrenia; whole-exome sequencing in a consanguineous family with affected siblings, follow-up sequencing and a case-control study. PMID:31695380
Two types of primary mucinous ovarian tumors can be distinguished based on their origin. PMID:31695154
Empirical design of a variant quality control pipeline for whole genome sequencing data using replicate discordance. PMID:31695094
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. PMID:31694722
Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family. PMID:31694657
Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design. PMID:31693904
Clinical utility of genomic sequencing. PMID:31693580
Prediction of impacts of mutations on protein structure and interactions: SDM, a statistical approach, and mCSM, using machine learning. PMID:31693276
Serial ultra-deep sequencing of circulating tumor DNA reveals the clonal evolution in non-small cell lung cancer patients treated with anti-PD1 immunotherapy. PMID:31692284
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. PMID:31692161
CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies. PMID:31691819
A transcriptome-wide association study implicates specific pre- and post-synaptic abnormalities in schizophrenia. PMID:31691811
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition. PMID:31691385
Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry. PMID:31688885
Rapid Whole Genome Sequencing and Fulfilling the Promise of Precision Pediatric Critical Care. PMID:31688677
Glucocorticoids paradoxically facilitate steroid resistance in T cell acute lymphoblastic leukemias and thymocytes. PMID:31687977
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. PMID:31685998
Large-scale analysis of acquired chromosomal alterations in non-tumor samples from patients with cancer. PMID:31685958
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer. PMID:31681433
Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease. PMID:31680973
Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge. PMID:31680375
MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect. PMID:31679514
The genetic landscape of the human solute carrier (SLC) transporter superfamily. PMID:31679053
Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing. PMID:31677249
Functional Assessment In Vivo of the Mouse Homolog of the Human Ala-9-Ser NHE6 Variant. PMID:31676550
Mutations in ASH1L confer susceptibility to Tourette syndrome. PMID:31673123
The Personal Genome Project-UK, an open access resource of human multi-omics data. PMID:31672996
Itaconyl-CoA forms a stable biradical in methylmalonyl-CoA mutase and derails its activity and repair. PMID:31672889
A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report. PMID:31672125
SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation. PMID:31671075
A Genocentric Approach to Discovery of Mendelian Disorders. PMID:31668702
IRAK3 modulates downstream innate immune signalling through its guanylate cyclase activity. PMID:31664109
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. PMID:31664034
SCGN deficiency results in colitis susceptibility. PMID:31663849
The Effects of Rare SERPINA1 Variants on Lung Function and Emphysema in SPIROMICS. PMID:31661293
Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants. PMID:31660995
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. PMID:31660661
The impact of nonsense-mediated mRNA decay on genetic disease, gene editing and cancer immunotherapy. PMID:31659324
A DNAH17 missense variant causes flagella destabilization and asthenozoospermia. PMID:31658987
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment. PMID:31656313
Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report. PMID:31656175
Novel variants in CDH2 are associated with a new syndrome including Peters anomaly. PMID:31650526
Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives. PMID:31649718
Variation in Actionable Pharmacogenetic Markers in Natives and Mestizos From Mexico. PMID:31649539
Genes essential for embryonic stem cells are associated with neurodevelopmental disorders. PMID:31649057
Extensive impact of low-frequency variants on the phenotypic landscape at population-scale. PMID:31647416
Rare variants contribute disproportionately to quantitative trait variation in yeast. PMID:31647408
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. PMID:31646703
Breakpoint junction features of seven DMD deletion mutations. PMID:31645977
Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis. PMID:31645654
Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans. PMID:31642496
Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up. PMID:31641589
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations. PMID:31640808
Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes. PMID:31638168
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation. PMID:31636267
ZP4 confers structural properties to the zona pellucida essential for embryo development. PMID:31635692
Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration. PMID:31635417
Eutherian-Specific Gene TRIML2 Attenuates Inflammation in the Evolution of Placentation. PMID:31633784
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. PMID:31630788
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. PMID:31630787
A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator. PMID:31628846
Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms. PMID:31626773
Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome. PMID:31625690
Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy. PMID:31625145
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. PMID:31624253
Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement. PMID:31620126
Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation. PMID:31619542
The Impact of CYP3A4*22 on Tacrolimus Pharmacokinetics and Outcome in Clinical Practice at a Single Kidney Transplant Center. PMID:31616470
Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus. PMID:31616463
Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3. PMID:31616254
Precision oncology: lessons learned and challenges for the future. PMID:31616176
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. PMID:31616000
Radiation Drives the Evolution of Orthotopic Xenografts Initiated from Glioblastoma Stem-like Cells. PMID:31615806
VarSight: prioritizing clinically reported variants with binary classification algorithms. PMID:31615419
Biological Network Approaches and Applications in Rare Disease Studies. PMID:31614842
TAPES: A tool for assessment and prioritisation in exome studies. PMID:31613886
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function. PMID:31613795
Rare missense variants in the human cytosolic antibody receptor preserve antiviral function. PMID:31613747
Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease. PMID:31613678
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay. PMID:31612648
The novel high-frequency variant of TRPV3 p.A628T in East Asians showing faster sensitization in response to chemical agonists. PMID:31612282
KHDC3L mutation causes recurrent pregnancy loss by inducing genomic instability of human early embryonic cells. PMID:31609975
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. PMID:31607425
Local ancestry at APOE modifies Alzheimer's disease risk in Caribbean Hispanics. PMID:31606368
Recapitulation and Reversal of Schizophrenia-Related Phenotypes in Setd1a-Deficient Mice. PMID:31606247
Contribution of retrotransposition to developmental disorders. PMID:31604926
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma. PMID:31604778
Novel biallelic variants in MSTO1 associated with mitochondrial myopathy. PMID:31604776
A large data resource of genomic copy number variation across neurodevelopmental disorders. PMID:31602316
Filaments and phenotypes: cellular roles and orphan effects associated with mutations in cytoplasmic intermediate filament proteins. PMID:31602295
Genetic regulatory variation in populations informs transcriptome analysis in rare disease. PMID:31601707
Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders. PMID:31600826
Trace amine-associated receptor gene polymorphism increases drug craving in individuals with methamphetamine dependence. PMID:31600226
Functional rare variants influence the clinical response to anti-TNF therapy in Crohn's disease. PMID:31598133
Targeted sequencing identifies novel variants in common and rare MODY genes. PMID:31595705
Integrative Molecular Analysis of Patients With Advanced and Metastatic Cancer. PMID:31592503
Inferred divergent gene regulation in archaic hominins reveals potential phenotypic differences. PMID:31591491
Tnni3k alleles influence ventricular mononuclear diploid cardiomyocyte frequency. PMID:31589606
Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients. PMID:31589380
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. PMID:31587868
Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease. PMID:31587151
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia. PMID:31586945
A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data. PMID:31585107
The International Genome Sample Resource (IGSR) collection of open human genomic variation resources. PMID:31584097
Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20. PMID:31583969
Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment. PMID:31583275
Genetic and epigenetic study of an Alzheimer's disease family with monozygotic triplets. PMID:31580390
Molecular evolution of the meiotic recombination pathway in mammals. PMID:31579931
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. PMID:31579823
Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly. PMID:31578829
Integrated genomic profiling expands clinical options for patients with cancer. PMID:31570899
The genomic landscape of metastatic breast cancer highlights changes in mutation and signature frequencies. PMID:31570896
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. PMID:31570889
Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women. PMID:31569399
Mitochondrial Calcium Uniporter Structure and Function in Different Types of Muscle Tissues in Health and Disease. PMID:31569359
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. PMID:31562665
Discovery of Novel Sequences in 1,000 Swedish Genomes. PMID:31560401
Tolerance to Selenoprotein Loss Differs between Human and Mouse. PMID:31560400
Functional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population. PMID:31558841
A characterization of cis- and trans-heritability of RNA-Seq-based gene expression. PMID:31558840
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. PMID:31557132
Further Clinical and Molecular Delineation of Xp11.22 Deletion Syndrome: A Case Report. PMID:31555424
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease. PMID:31555317
Genetic associations of perinatal pain and depression. PMID:31552780
Analyses of epithelial Na+ channel variants reveal that an extracellular β-ball domain critically regulates ENaC gating. PMID:31551351
Crystal structure of cis-aconitate decarboxylase reveals the impact of naturally occurring human mutations on itaconate synthesis. PMID:31548418
Functional interpretation of genetic variants using deep learning predicts impact on chromatin accessibility and histone modification. PMID:31544924
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients. PMID:31544778
Reverse gene-environment interaction approach to identify variants influencing body-mass index in humans. PMID:31538139
Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism. PMID:31537871
NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis. PMID:31536524
Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors. PMID:31535183
Rare Human Missense Variants can affect the Function of Disease-Relevant Proteins by Loss and Gain of Peroxisomal Targeting Motifs. PMID:31533369
Inequities in multi-gene hereditary cancer testing: lower diagnostic yield and higher VUS rate in individuals who identify as Hispanic, African or Asian and Pacific Islander as compared to European. PMID:31531760
A regression framework to uncover pleiotropy in large-scale electronic health record data. PMID:31529123
A missense variant in PER2 is associated with delayed sleep-wake phase disorder in a Japanese population. PMID:31527662
Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient. PMID:31527204
Passenger Hotspot Mutations in Cancer. PMID:31526759
Genetic modifiers and non-Mendelian aspects of CMT. PMID:31525351
NLRX1 inhibits the early stages of CNS inflammation and prevents the onset of spontaneous autoimmunity. PMID:31525189
Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity. PMID:31524990
Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy. PMID:31524317
Combining sequence data from multiple studies: Impact of analysis strategies on rare variant calling and association results. PMID:31520493
In Vivo Expression of NUP93 and Its Alteration by NUP93 Mutations Causing Focal Segmental Glomerulosclerosis. PMID:31517150
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. PMID:31515488
A-to-I RNA editing contributes to the persistence of predicted damaging mutations in populations. PMID:31515285
Impact of DNA source on genetic variant detection from human whole-genome sequencing data. PMID:31515274
Pegylated interferon alfa-2a for polycythemia vera or essential thrombocythemia resistant or intolerant to hydroxyurea. PMID:31515250
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice. PMID:31513549
Contribution of Four Polymorphisms in Renin-Angiotensin-Aldosterone-Related Genes to Hypertension in a Thai Population. PMID:31511791
Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation. PMID:31511340
Dominant collagen XII mutations cause a distal myopathy. PMID:31509352
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients. PMID:31508908
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies. PMID:31506931
Decoding the role of SOD2 in sickle cell disease. PMID:31506286
Reduced Stability and pH-Dependent Activity of a Common Obesity-Linked PCSK1 Polymorphism, N221D. PMID:31504391
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. PMID:31504246
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification. PMID:31501477
MRGPRX4 is a bile acid receptor for human cholestatic itch. PMID:31500698
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database. PMID:31500643
Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature. PMID:31498527
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. PMID:31498321
Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes. PMID:31497750
Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation. PMID:31497478
Analysis of CDKN1C in fetal growth restriction and pregnancy loss. PMID:31497289
Genetic intolerance analysis as a tool for protein science. PMID:31494120
A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy. PMID:31489791
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. PMID:31488895
Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report. PMID:31488071
Exome sequencing of Saudi Arabian patients with ADPKD. PMID:31488014
A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves. PMID:31486122
Copy number variants in lipid metabolism genes are associated with gallstones disease in men. PMID:31485028
Reference Intervals of Serum Non-Cholesterol Sterols by Gender in Healthy Japanese Individuals. PMID:31484845
Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis. PMID:31484767
Breakdown of multiple sclerosis genetics to identify an integrated disease network and potential variant mechanisms. PMID:31482761
Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia. PMID:31482689
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. PMID:31481752
A Frameshift Variant in the CHST9 Gene Identified by Family-Based Whole Genome Sequencing Is Associated with Schizophrenia in Chinese Population. PMID:31481703
Integrated Pan-Cancer Map of EBV-Associated Neoplasms Reveals Functional Host-Virus Interactions. PMID:31481499
Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines. PMID:31479589
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information. PMID:31475990
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy. PMID:31475481
Cancer-Specific Thresholds Adjust for Whole Exome Sequencing-based Tumor Mutational Burden Distribution. PMID:31475242
Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort. PMID:31475037
Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma. PMID:31474320
GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates. PMID:31471722
Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel. PMID:31471553
Intradural cauda equina Candida abscess presenting with hydrocephalus: case report. PMID:31470401
Dark-matter matters: Discriminating subtle blood cancers using the darkest DNA. PMID:31469830
A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene. PMID:31469826
Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS). PMID:31469246
A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity. PMID:31468281
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature. PMID:31467448
de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation. PMID:31467394
Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior. PMID:31467194
Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma. PMID:31464824
Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping. PMID:31464105
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. PMID:31463572
2018 George Lyman Duff Memorial Lecture: Genetics and Genomics of Coronary Artery Disease: A Decade of Progress. PMID:31462092
An unprecedented COPA gene mutation in two patients in the same family: comparative clinical analysis of newly reported patients with other known COPA gene mutations. PMID:31455335
Impact of RNA testing on cardiac variant interpretation and patient management. PMID:31453089
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. PMID:31452935
Estrogen receptor 1 mutations in 260 cervical cancer samples from Chinese patients. PMID:31452755
A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy. PMID:31452356
Application of ACMG criteria to classify variants in the human gene mutation database. PMID:31451714
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. PMID:31451536
Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress. PMID:31449058
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. PMID:31448843
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. PMID:31447100
Integrative transcriptome imputation reveals tissue-specific and shared biological mechanisms mediating susceptibility to complex traits. PMID:31444360
Variant Interpretation for Cancer (VIC): a computational tool for assessing clinical impacts of somatic variants. PMID:31443733
Calvarial osteoblast gene expression in patients with craniosynostosis leads to novel polygenic mouse model. PMID:31442251
The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar. PMID:31441606
Does APC/CCDH1 control the human brain size?: An Editorial Highlight for 'A novel human Cdh1 mutation impairs anaphase-promoting complex/cyclosome (APC/C) activity resulting in microcephaly, psychomotor retardation, and epilepsy' on page 103. PMID:31441503
Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study. PMID:31440271
Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants. PMID:31439692
Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups. PMID:31439678
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data. PMID:31433103
Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients. PMID:31432357
A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia. PMID:31431935
Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation. PMID:31430258
Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment. PMID:31428396
Signatures of replication timing, recombination, and sex in the spectrum of rare variants on the human X chromosome and autosomes. PMID:31427530
KCNMA1-linked channelopathy. PMID:31427379
Three rare disease diagnoses in one patient through exome sequencing. PMID:31427378
An estimator of first coalescent time reveals selection on young variants and large heterogeneity in rare allele ages among human populations. PMID:31425500
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia. PMID:31423530
Distinct Binding Modes of Vinculin Isoforms Underlie Their Functional Differences. PMID:31422909
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. PMID:31422817
VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis. PMID:31418091
A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient. PMID:31414730
Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome. PMID:31413120
Mutations in topoisomerase IIβ result in a B cell immunodeficiency. PMID:31409799
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. PMID:31407851
Novel HIVEP2 Variant p.Q1248* is Associated with Developmental Delay: A Case Report. PMID:31406623
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients. PMID:31406321
MAPT p.V363I mutation: A rare cause of corticobasal degeneration. PMID:31404212
Beyond the One Gene-One Disease Paradigm: Complex Genetics and Pleiotropy in Inheritable Cardiac Disorders. PMID:31403841
Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification. PMID:31403263
CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials. PMID:31403230
The interactome of KRAB zinc finger proteins reveals the evolutionary history of their functional diversification. PMID:31403225
AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout-NLS-lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue-specificity. PMID:31402633
Extreme Polygenicity of Complex Traits Is Explained by Negative Selection. PMID:31402091
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. PMID:31402090
Coatopathies: Genetic Disorders of Protein Coats. PMID:31399000
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks. PMID:31398340
CNTNAP1 mutations in an adult with Charcot Marie Tooth disease. PMID:31397905
Clinical implications of sarcomere and nonsarcomere gene variants in patients with left ventricular noncompaction cardiomyopathy. PMID:31397097
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese. PMID:31396399
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution. PMID:31395865
ALG9 Mutation Carriers Develop Kidney and Liver Cysts. PMID:31395617
Opportunities, resources, and techniques for implementing genomics in clinical care. PMID:31395439
Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression. PMID:31395010
SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus. PMID:31393094
Targeting pyrimidine synthesis accentuates molecular therapy response in glioblastoma stem cells. PMID:31391321
Predicting the Occurrence of Variants in RAG1 and RAG2. PMID:31388879
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome. PMID:31388001
Differential requirements of tubulin genes in mammalian forebrain development. PMID:31386652
Development of precision medicine approaches based on inter-individual variability of BCRP/ABCG2. PMID:31384528
MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy. PMID:31384439
Heterozygous Mutations in SMARCA2 Reprogram the Enhancer Landscape by Global Retargeting of SMARCA4. PMID:31375262
Filaggrin sequencing and bioinformatics tools. PMID:31372728
The RNA hairpin binder TRIM71 modulates alternative splicing by repressing MBNL1. PMID:31371437
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. PMID:31370276
Missense mutations in the C-terminal portion of the B4GALNT2-encoded glycosyltransferase underlying the Sd(a-) phenotype. PMID:31367682
Uncovering missed indels by leveraging unmapped reads. PMID:31366961
Validation of a clinical-genetics score to predict hemorrhagic transformations after rtPA. PMID:31366724
Integrated Analysis of TP53 Gene and Pathway Alterations in The Cancer Genome Atlas. PMID:31365877
Association of Filaggrin Loss-of-Function Variants With Race in Children With Atopic Dermatitis. PMID:31365035
A prospective evaluation of pegylated interferon alfa-2a therapy in patients with polycythemia vera and essential thrombocythemia with a prior splanchnic vein thrombosis. PMID:31363161
Phenotype delineation of ZNF462 related syndrome. PMID:31361404
Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers. PMID:31360904
Scarcity of Recurrent Regulatory Driver Mutations in Colorectal Cancer Revealed by Targeted Deep Sequencing. PMID:31360895
Assessment of genetic variant burden in epilepsy-associated brain lesions. PMID:31358956
Frequencies of clinically important CYP2C19 and CYP2D6 alleles are graded across Europe. PMID:31358955
An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort. PMID:31358886
High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer. PMID:31358837
AKNA Frameshift Variant in Three Dogs with Recurrent Inflammatory Pulmonary Disease. PMID:31357536
Functional Characterization of Rare Variants in the SHOX2 Gene Identified in Sinus Node Dysfunction and Atrial Fibrillation. PMID:31354791
De Novo Germline Mutations in SEMA5A Associated With Infantile Spasms. PMID:31354784
Host Genetics, Innate Immune Responses, and Cellular Death Pathways in Poliomyelitis Patients. PMID:31354645
Phenome-wide Burden of Copy-Number Variation in the UK Biobank. PMID:31353025
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. PMID:31353023
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. PMID:31353022
A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing. PMID:31347296
Molecular Profiling Reclassifies Adult Astroblastoma into Known and Clinically Distinct Tumor Entities with Frequent Mitogen-Activated Protein Kinase Pathway Alterations. PMID:31346129
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series. PMID:31345272
Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits. PMID:31345219
Before and After: Comparison of Legacy and Harmonized TCGA Genomic Data Commons' Data. PMID:31344359
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016. PMID:31342580
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish. PMID:31341187
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. PMID:31337883
A brain somatic RHEB doublet mutation causes focal cortical dysplasia type II. PMID:31337748
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy. PMID:31337358
BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants. PMID:31336956
Cohesin complex-associated holoprosencephaly. PMID:31334757
A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype. PMID:31334606
Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes. PMID:31334572
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2). PMID:31332306
Genetic Associations between Voltage-Gated Calcium Channels and Psychiatric Disorders. PMID:31331039
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data. PMID:31328417
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. PMID:31327508
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. PMID:31327507
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. PMID:31327001
The clinical and radiological profile of primary lateral sclerosis: a population-based study. PMID:31325016
Pptc7 is an essential phosphatase for promoting mammalian mitochondrial metabolism and biogenesis. PMID:31324765
Novel missense alleles of SIGMAR1 as tools to understand emerin-dependent gene silencing in response to cocaine. PMID:31324122
IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing. PMID:31323090
Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings. PMID:31320746
Mendelian disease caused by variants affecting recognition of Z-DNA and Z-RNA by the Zα domain of the double-stranded RNA editing enzyme ADAR. PMID:31320745
Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma. PMID:31320741
Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets. PMID:31320640
A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy. PMID:31318984
CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equation. PMID:31317604
VariED: the first integrated database of gene annotation and expression profiles for variants related to human diseases. PMID:31317185
Establishment and equilibrium levels of deleterious mutations in large populations. PMID:31316137
Calpain 9 as a therapeutic target in TGFβ-induced mesenchymal transition and fibrosis. PMID:31316008
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants. PMID:31315195
Allelic variants of breast cancer susceptibility genes PALB2 and RECQL in the Latvian population. PMID:31312277
Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report. PMID:31309178
Patient-specific cancer genes contribute to recurrently perturbed pathways and establish therapeutic vulnerabilities in esophageal adenocarcinoma. PMID:31308377
Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis. PMID:31308374
Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare. PMID:31308101
Contributions of Rare Gene Variants to Familial and Sporadic FSGS. PMID:31308072
Assessing cell-specific effects of genetic variations using tRNA microarrays. PMID:31307398
Benchmarking subcellular localization and variant tolerance predictors on membrane proteins. PMID:31307390
Whole exome sequencing aids the diagnosis of Simpson-Golabi-Behmel syndrome in two male fetuses. PMID:31304847
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. PMID:31303265
Mutations in RHOT1 Disrupt Endoplasmic Reticulum-Mitochondria Contact Sites Interfering with Calcium Homeostasis and Mitochondrial Dynamics in Parkinson's Disease. PMID:31303019
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. PMID:31302675
Assessing predictions of the impact of variants on splicing in CAGI5. PMID:31301154
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum. PMID:31301121
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. PMID:31300657
Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation. PMID:31300647
One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene. PMID:31300551
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. PMID:31298765
Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome. PMID:31297992
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. PMID:31294896
Dissecting in silico Mutation Prediction of Variants in African Genomes: Challenges and Perspectives. PMID:31293624
Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy. PMID:31293105
GEAMP, a novel gastroesophageal junction carcinoma cell line derived from a malignant pleural effusion. PMID:31292541
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. PMID:31292255
Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis. PMID:31291970
A genome-wide scan statistic framework for whole-genome sequence data analysis. PMID:31289270
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases. PMID:31288420
Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing. PMID:31285513
Computational framework for targeted high-coverage sequencing based NIPT. PMID:31283802
Analysis of the genetic basis of height in large Jewish nuclear families. PMID:31283753
The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public. PMID:31280677
A novel ISCA2 variant responsible for an early-onset neurodegenerative mitochondrial disorder: a case report of multiple mitochondrial dysfunctions syndrome 4. PMID:31279336
De novo substitutions of TRPM3 cause intellectual disability and epilepsy. PMID:31278393
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data. PMID:31278258
Upper tract urothelial carcinoma has a luminal-papillary T-cell depleted contexture and activated FGFR3 signaling. PMID:31278255
Memo1-Mediated Tiling of Radial Glial Cells Facilitates Cerebral Cortical Development. PMID:31277925
Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes. PMID:31273585
PAX8-GLIS3 gene fusion is a pathognomonic genetic alteration of hyalinizing trabecular tumors of the thyroid. PMID:31273314
A glycine-specific N-degron pathway mediates the quality control of protein N-myristoylation. PMID:31273098
"Somatic" and "pathogenic" - is the classification strategy applicable in times of large-scale sequencing? PMID:31273095
CRISPR knockout screen implicates three genes in lysosome function. PMID:31270356
Genetic Variation, Comparative Genomics, and the Diagnosis of Disease. PMID:31269367
A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy. PMID:31268246
Whole-exome sequencing of ovarian cancer families uncovers putative predisposition genes. PMID:31265121
Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy. PMID:31264976
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. PMID:31264822
Hyponatremic Seizures and Adrenal Hypoplasia Congenita in a Neonate with Congenital Diaphragmatic Hernia. PMID:31263616
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene. PMID:31263216
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. PMID:31263215
Genomic data analysis workflows for tumors from patient-derived xenografts (PDXs): challenges and guidelines. PMID:31262303
Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project. PMID:31256874
High-throughput identification of human SNPs affecting regulatory element activity. PMID:31253979
Mutant H3 histones drive human pre-leukemic hematopoietic stem cell expansion and promote leukemic aggressiveness. PMID:31253791
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. PMID:31253780
Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis. PMID:31253775
The insulin-like growth factor 2 gene in mammals: Organizational complexity within a conserved locus. PMID:31251794
Bioinformatic Methods and Bridging of Assay Results for Reliable Tumor Mutational Burden Assessment in Non-Small-Cell Lung Cancer. PMID:31250328
Whole exome sequencing of patients who resolved Crohn's disease and complex regional pain syndrome following treatment for paratuberculosis. PMID:31249631
Estimation of allele-specific fitness effects across human protein-coding sequences and implications for disease. PMID:31249063
Germline genetic landscape of pediatric central nervous system tumors. PMID:31247102
Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience. PMID:31243663
Gene expression across mammalian organ development. PMID:31243369
Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer. PMID:31241222
Epigenomic Convergence of Neural-Immune Risk Factors in Neurodevelopmental Disorder Cortex. PMID:31240313
A novel ABCC6 variant causative of pseudoxanthoma elasticum. PMID:31240106
3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome. PMID:31240104
Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus. PMID:31239750
Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells. PMID:31237724
Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data. PMID:31235808
Neutrophil GM-CSF signaling in inflammatory bowel disease patients is influenced by non-coding genetic variants. PMID:31235766
Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes. PMID:31235738
Integrative analysis of genomic and transcriptomic characteristics associated with progression of aggressive thyroid cancer. PMID:31235699
Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets. PMID:31235655
Implementation of genomics in medical practice to deliver precision medicine for an Asian population. PMID:31231544
The Relevance of Variants With Unknown Significance for Autism Spectrum Disorder Considering the Genotype-Phenotype Interrelationship. PMID:31231258
The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy. PMID:31231018
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. PMID:31230722
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders. PMID:31230721
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. PMID:31230195
High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. PMID:31229653
Clinicopathological characteristics and molecular abnormalities of primary grade 2 neuroendocrine tumors of the cervix. PMID:31228945
Gene-specific features enhance interpretation of mutational impact on acid α-glucosidase enzyme activity. PMID:31228295
A pilot study of the implementation of pharmacogenomic pharmacist initiated pre-emptive testing in primary care. PMID:31227807
Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar. PMID:31227806
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy. PMID:31227780
Rare DEGS1 variant significantly alters de novo ceramide synthesis pathway. PMID:31227640
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations. PMID:31227601
Advances in genetics of migraine. PMID:31226929
Effects of interleukin-6 receptor blockade on allergen-induced airway responses in mild asthmatics. PMID:31223480
Exome Sequencing in Clinical Hepatology. PMID:31222768
Neuronally Enriched RUFY3 Is Required for Caspase-Mediated Axon Degeneration. PMID:31221560
Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort. PMID:31220907
The role of protein complexes in human genetic disease. PMID:31219644
Prospective Comprehensive Genomic Profiling of Primary and Metastatic Prostate Tumors. PMID:31218271
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants. PMID:31216868
Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls. PMID:31214711
Revisiting Non-BRCA1/2 Familial Whole Exome Sequencing Datasets Implicates NCK1 as a Cancer Gene. PMID:31214250
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans. PMID:31211835
Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection. PMID:31211624
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan. PMID:31211173
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant. PMID:31211171
Characterization of intellectual disability and autism comorbidity through gene panel sequencing. PMID:31209962
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression. PMID:31209758
Recessive gene disruptions in autism spectrum disorder. PMID:31209396
Laying the foundation for genomically-based risk assessment in chronic myeloid leukemia. PMID:31209280
Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current (I K,ACh). PMID:31208990
Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel. PMID:31207142
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. PMID:31206972
Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer. PMID:31206626
Meta-analysis of genomic variants and gene expression data in schizophrenia suggests the potential need for adjunctive therapeutic interventions for neuropsychiatric disorders. PMID:31204709
Engineering Genetic Predisposition in Human Neuroepithelial Stem Cells Recapitulates Medulloblastoma Tumorigenesis. PMID:31204176
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. PMID:31204009
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies. PMID:31203817
Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers. PMID:31203567
When you're strange: Unusual features of the MUTYH glycosylase and implications in cancer. PMID:31203172
De novo variants in CNOT3 cause a variable neurodevelopmental disorder. PMID:31201375
β6 integrinosis: a new lethal autosomal recessive ITGB6 disorder leading to impaired conformational transitions of the αVβ6 integrin receptor. PMID:31201286
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study. PMID:31200731
Evolutionary coupling analysis identifies the impact of disease-associated variants at less-conserved sites. PMID:31199866
Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome. PMID:31199787
NF1 mutations identify molecular and clinical subtypes of lung adenocarcinomas. PMID:31199580
BAMixChecker: an automated checkup tool for matched sample pairs in NGS cohort. PMID:31197312
The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review. PMID:31196143
Estimated nationwide impact of implementing a preemptive pharmacogenetic panel approach to guide drug prescribing in primary care in The Netherlands. PMID:31196067
The SOXE transcription factors-SOX8, SOX9 and SOX10-share a bi-partite transactivation mechanism. PMID:31194875
VarMap: a web tool for mapping genomic coordinates to protein sequence and structure and retrieving protein structural annotations. PMID:31192369
Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations. PMID:31192177
Increased Levels of Genomic Instability and Mutations in Homologous Recombination Genes in Locally Advanced Rectal Carcinomas. PMID:31192117
Unrecognized High Occurrence of Genetically Confirmed Hereditary Carnitine Palmitoyltransferase II Deficiency in an Austrian Family Points to the Ongoing Underdiagnosis of the Disease. PMID:31191612
Phenotypic Spectrum and Severity of Disease Depending on the Mutated Protein Domain of NMDA Receptor-Encoding Genes. PMID:31191200
In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth. PMID:31190668
Transcriptional States and Chromatin Accessibility Underlying Human Erythropoiesis. PMID:31189107
A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency. PMID:31187905
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation. PMID:31187503
SLC41A1 and TRPM7 in magnesium homeostasis and genetic risk for Parkinson's disease. PMID:31187092
A catalog of single nucleotide changes distinguishing modern humans from archaic hominins. PMID:31186485
Exploratory locomotion, a predictor of addiction vulnerability, is oligogenic in rats selected for this phenotype. PMID:31182603
Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay. PMID:31180560
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. PMID:31180157
Genetic Variants Are Not Rare in ICD Candidates with Dilated Cardiomyopathy: Time for Next-Generation Sequencing? PMID:31179125
Colchicine Myopathy: A Case Series Including Muscle MRI and ABCB1 Polymorphism Data. PMID:31178824
Accelerated Current Decay Kinetics of a Rare Human Acid-Sensing ion Channel 1a Variant That Is Used in Many Studies as Wild Type. PMID:31178694
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. PMID:31175295
Germline variants and somatic mutation signatures of breast cancer across populations of African and European ancestry in the US and Nigeria. PMID:31173346
arcasHLA: high-resolution HLA typing from RNAseq. PMID:31173059
RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues. PMID:31171663
SynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse. PMID:31171447
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. PMID:31170290
MTR-Viewer: identifying regions within genes under purifying selection. PMID:31170280
Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease. PMID:31170158
Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. PMID:31168944
Individual and combined presenilin 1 and 2 knockouts reveal that both have highly overlapping functions in HEK293T cells. PMID:31167792
RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families. PMID:31165076
A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat. PMID:31164718
The Sustained Induction of c-MYC Drives Nab-Paclitaxel Resistance in Primary Pancreatic Ductal Carcinoma Cells. PMID:31164413
Targeted ultra-deep sequencing of a South African Bantu-speaking cohort to comprehensively map and characterize common and novel variants in 65 pharmacologically-related genes. PMID:31162291
WDSPdb: an updated resource for WD40 proteins. PMID:31161214
VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects. PMID:31161195
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. PMID:31160820
Human evolved regulatory elements modulate genes involved in cortical expansion and neurodevelopmental disease susceptibility. PMID:31160561
Targeted next generation sequencing as a tool for precision medicine. PMID:31159795
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations. PMID:31159747
Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies. PMID:31156706
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. PMID:31155615
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome. PMID:31155282
Modeling post-translational modifications and cancer-associated mutations that impact the heterochromatin protein 1α-importin α heterodimers. PMID:31152607
ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations. PMID:31147699
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. PMID:31147538
Oligogenic inheritance of a human heart disease involving a genetic modifier. PMID:31147515
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge. PMID:31144778
BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation. PMID:31142030
Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans. PMID:31138708
Increased diagnostic yield by reanalysis of data from a hearing loss gene panel. PMID:31138263
Association of Early-Onset Alzheimer Disease With Elevated Low-Density Lipoprotein Cholesterol Levels and Rare Genetic Coding Variants of APOB. PMID:31135820
Recent genetic and functional insights in autism spectrum disorder. PMID:31135459
A Social Determinant of Health May Modify Genetic Associations for Blood Pressure: Evidence From a SNP by Education Interaction in an African American Population. PMID:31134134
Long-Read Sequencing Emerging in Medical Genetics. PMID:31134132
Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk. PMID:31133750
Rare variant phasing using paired tumor:normal sequence data. PMID:31132991
Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling. PMID:31132118
Transcriptome analysis of gingival tissues of enamel-renal syndrome. PMID:31131889
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity. PMID:31131421
Linear time minimum segmentation enables scalable founder reconstruction. PMID:31131017
Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants. PMID:31127708
VCF-Server: A web-based visualization tool for high-throughput variant data mining and management. PMID:31127704
Predicting disease-causing variant combinations. PMID:31127050
Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer. PMID:31125277
Systems pharmacogenomics - gene, disease, drug and placebo interactions: a case study in COMT. PMID:31124409
International Society of Psychiatric Genetics Ethics Committee: Issues facing us. PMID:31124312
Novel Therapies for Prevention and Early Treatment of Cardiomyopathies. PMID:31120825
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES. PMID:31119192
MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains. PMID:31116477
A novel pathogenic variant of ATP-binding cassette subfamily B member 4 causing gallstones in a young adult. PMID:31115781
CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease. PMID:31115454
Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database. PMID:31114901
Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes. PMID:31114635
Hair Proteome Variation at Different Body Locations on Genetically Variant Peptide Detection for Protein-Based Human Identification. PMID:31113963
Good Intentions Gone Bad. PMID:31112422
Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia. PMID:31112269
Emery-Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress-related spastic diplegia. PMID:31110749
A novel de novo frameshift variant in SETD1B causes epilepsy. PMID:31110234
A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia. PMID:31107948
MutationDistiller: user-driven identification of pathogenic DNA variants. PMID:31106342
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases. PMID:31106028
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. PMID:31104773
Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight. PMID:31104630
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing. PMID:31104286
Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children. PMID:31102422
ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma. PMID:31101826
Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report. PMID:31101089
Family-Based Next-Generation Sequencing Study Identifies an IL2RG Variant in an Infant with Primary Immunodeficiency. PMID:31100039
Extensive metabolic remodeling after limiting mitochondrial lipid burden is consistent with an improved metabolic health profile. PMID:31097541
GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data. PMID:31096927
Importance of Genetic Diagnostics in Adult-Onset Focal Segmental Glomerulosclerosis. PMID:31096240
An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome. PMID:31095560
Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes. PMID:31094488
Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia. PMID:31089205
Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles? PMID:31088528
PD-L1 expression and tumor mutational burden status for prediction of response to chemotherapy and targeted therapy in non-small cell lung cancer. PMID:31088500
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene. PMID:31088393
Extracting Complementary Insights from Molecular Phenotypes for Prioritization of Disease-Associated Mutations. PMID:31086831
Oligogenic basis of sporadic ALS: The example of SOD1 p.Ala90Val mutation. PMID:31086828
Exome-Based Rare-Variant Analyses in CKD. PMID:31085678
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. PMID:31081514
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. PMID:31079899
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. PMID:31079897
Host Genome Variation is Associated with Neurocognitive Outcome in Survivors of Pediatric Medulloblastoma. PMID:31078964
Tissue-specific genes as an underutilized resource in drug discovery. PMID:31076736
Fabry Disease that Phenocopies Hypertrophic Cardiomyopathy: a thorough Genetic 'Detective' Identifies the 'Rogue' Hidden in the GLA Gene. PMID:31074215
A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene. PMID:31073471
Beta-Catenin Mutation with Complex Chromosomal Changes in Desmoid Tumor of the Scalp: A Case Report. PMID:31073365
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias. PMID:31073229
Dilated cardiomyopathy. PMID:31073128
Gene pathogenicity prediction of Mendelian diseases via the random forest algorithm. PMID:31069506
Next-generation characterization of the Cancer Cell Line Encyclopedia. PMID:31068700
A fully-automated event-based variant prioritizing solution to the CAGI5 intellectual disability gene panel challenge. PMID:31066479
A functional assay to classify ZBTB24 missense variants of unknown significance. PMID:31066130
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. PMID:31064749
Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E. PMID:31064215
GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants. PMID:31063852
Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2. PMID:31061923
Clinical and molecular spectrum of CHOPS syndrome. PMID:31058441
Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies. PMID:31056671
Exome Sequencing in Children. PMID:31056085
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. PMID:31053785
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry. PMID:31053783
Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population. PMID:31053132
Genes with High Network Connectivity Are Enriched for Disease Heritability. PMID:31051114
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. PMID:31048900
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. PMID:31048081
Biallelic variants in DNA2 cause microcephalic primordial dwarfism. PMID:31045292
Nonsense mutation-dependent reinitiation of translation in mammalian cells. PMID:31045216
SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data. PMID:31045209
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene. PMID:31044557
Colorectal metastasis to the gallbladder mimicking a primary gallbladder malignancy: histopathological and molecular characteristics. PMID:31044440
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants. PMID:31044088
Making Genetic Testing More Clinically Valuable. PMID:31043914
De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome. PMID:31043788
Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification. PMID:31043717
Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts. PMID:31043699
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease. PMID:31042289
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. PMID:31041561
Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis. PMID:31041317
Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders. PMID:31037860
[Detection and interpretation of somatic variants in molecular pathology]. PMID:31037375
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer. PMID:31036035
Precision Medicine in Internal Medicine. PMID:31035290
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. PMID:31034465
Complement C7 is a novel risk gene for Alzheimer's disease in Han Chinese. PMID:31032141
Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts. PMID:31031559
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome. PMID:31029150
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics. PMID:31026367
Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening. PMID:31026269
Autism risk genes are evolutionarily ancient and maintain a unique feature landscape that echoes their function. PMID:31025836
Angiogenin mutations in Hungarian patients with amyotrophic lateral sclerosis: Clinical, genetic, computational, and functional analyses. PMID:31025543
Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy. PMID:31025394
Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including 'Healthy Lipid' Emerin p.D149H in the ExAC Cohort. PMID:31024910
Robust Reference Powered Association Test of Genome-Wide Association Studies. PMID:31024629
A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway. PMID:31024343
NUDT15 Polymorphism Confer Increased Susceptibility to Thiopurine-Induced Leukopenia in Patients With Autoimmune Hepatitis and Related Cirrhosis. PMID:31024313
Impact of Genetic Variation on CRISPR-Cas Targeting. PMID:31021199
Recent advances in understanding the molecular genetic basis of mitochondrial disease. PMID:31021000
Novel Complex Interactions between Mitochondrial and Nuclear DNA in Schizophrenia and Bipolar Disorder. PMID:31019915
Study of chromatin remodeling genes implicates SMARCA4 as a putative player in oncogenesis in neuroblastoma. PMID:31018240
Heterozygosity mapping for human dominant trait variants. PMID:31018026
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability. PMID:31016231
Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A). PMID:31015822
Sequencing of human genomes with nanopore technology. PMID:31015479
Germline Missense Variants in BRCA1: New Trends and Challenges for Clinical Annotation. PMID:31013702
Molecular profiling of cancer patients enables personalized combination therapy: the I-PREDICT study. PMID:31011206
Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay. PMID:31010896
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus. PMID:31009037
Next generation sequencing analysis of patients with familial cervical artery dissection. PMID:31008308
A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly. PMID:31006510
Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans. PMID:31004148
Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities. PMID:31004071
De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application. PMID:31001316
Clinical utility of genomic analysis in adults with idiopathic liver disease. PMID:31000363
Translating genomics to the clinical diagnosis of disorders/differences of sex development. PMID:30999980
Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients. PMID:30999277
Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants. PMID:30997052
Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus. PMID:30996265
Removal of alleles by genome editing (RAGE) against deleterious load. PMID:30995904
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease. PMID:30994895
Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality. PMID:30993004
Multi-platform discovery of haplotype-resolved structural variation in human genomes. PMID:30992455
Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. PMID:30990900
RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency. PMID:30989467
Functional characterization of 3D protein structures informed by human genetic diversity. PMID:30988206
Uncovering Missing Heritability in Rare Diseases. PMID:30987386
Rare variants in MYH15 modify amyotrophic lateral sclerosis risk. PMID:30985904
The Role of Next Generation Sequencing in the Differential Diagnosis of Caroli's Syndrome. PMID:30984525
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. PMID:30982612
Pathogenic Variants in GPC4 Cause Keipert Syndrome. PMID:30982611
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. PMID:30982135
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556. PMID:30982090
Clinical application of next-generation sequencing to the practice of neurology. PMID:30981321
Metabolic and skeletal homeostasis are maintained in full locus GPRC6A knockout mice. PMID:30979912
Recessive Mutations in KIF12 Cause High Gamma-Glutamyltransferase Cholestasis. PMID:30976738
Variants in DOCK3 cause developmental delay and hypotonia. PMID:30976111
Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis. PMID:30976013
Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma. PMID:30975989
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS. PMID:30970188
Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease. PMID:30970187
A Multireporter Bacterial 2-Hybrid Assay for the High-Throughput and Dynamic Assay of PDZ Domain-Peptide Interactions. PMID:30969105
A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa. PMID:30967900
Population Pharmacogenomics for Precision Public Health in Colombia. PMID:30967898
Genes Whose Gain or Loss-of-Function Increases Endurance Performance in Mice: A Systematic Literature Review. PMID:30967789
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. PMID:30964584
Measuring intolerance to mutation in human genetics. PMID:30962618
Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis. PMID:30962325
Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report. PMID:30961548
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports. PMID:30961538
SeqSQC: A Bioconductor Package for Evaluating the Sample Quality of Next-generation Sequencing Data. PMID:30959223
A generally conserved response to hypoxia in iPSC-derived cardiomyocytes from humans and chimpanzees. PMID:30958265
DICER1 somatic mutations strongly impair miRNA processing even in benign thyroid lesions. PMID:30956758
Phenotypes associated with genes encoding drug targets are predictive of clinical trial side effects. PMID:30952858
Improved measures for evolutionary conservation that exploit taxonomy distances. PMID:30952844
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results. PMID:30951675
Genome sequencing for rightward hemispheric language dominance. PMID:30950222
Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits. PMID:30950137
Chromatin landscapes reveal developmentally encoded transcriptional states that define human glioblastoma. PMID:30948495
Genetic compensation triggered by mutant mRNA degradation. PMID:30944477
Precise therapeutic gene correction by a simple nuclease-induced double-stranded break. PMID:30944467
Incorporation of desmocollin-2 into the plasma membrane requires N-glycosylation at multiple sites. PMID:30942563
Polymorphism in Cytochrome P450 3A4 Is Ethnicity Related. PMID:30941162
A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS. PMID:30940688
Germline deletion of ETV6 in familial acute lymphoblastic leukemia. PMID:30940639
Discovering metabolic disease gene interactions by correlated effects on cellular morphology. PMID:30940487
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar. PMID:30937429
Largescale population genomics versus deep phenotyping: Brute force or elegant pragmatism towards precision medicine. PMID:30937181
Genetic Factors Associated with a Poor Outcome in Head and Neck Cancer Patients Receiving Definitive Chemoradiotherapy. PMID:30934880
Severe and protracted cholestasis in 44 young men taking bodybuilding supplements: assessment of genetic, clinical and chemical risk factors. PMID:30934130
Quantitative mapping of DNA phosphorothioatome reveals phosphorothioate heterogeneity of low modification frequency. PMID:30933976
Identification of human D lactate dehydrogenase deficiency. PMID:30931947
Integrative Genomics Analysis Unravels Tissue-Specific Pathways, Networks, and Key Regulators of Blood Pressure Regulation. PMID:30931314
Actionable Pharmacogenetic Variation in the Slovenian Genomic Database. PMID:30930780
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. PMID:30929741
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. PMID:30929739
Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients. PMID:30927251
A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions. PMID:30927068
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. PMID:30926972
A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants. PMID:30926958
Heterozygous rare genetic variants in non-syndromic early-onset obesity. PMID:30926952
Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer. PMID:30925779
Heterogeneous pathway activation and drug response modelled in colorectal-tumor-derived 3D cultures. PMID:30925167
Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry. PMID:30924900
Relationship between conformation shift and disease related variation sites in ATP-binding cassette transporter proteins. PMID:30923664
Combinatorial interactions of genetic variants in human cardiomyopathy. PMID:30923642
A geographically matched control population efficiently limits the number of candidate disease-causing variants in an unbiased whole-genome analysis. PMID:30917156
Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome. PMID:30915432
Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project. PMID:30915099
Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea. PMID:30914958
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. PMID:30914828
Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation. PMID:30914438
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency. PMID:30914273
Efficient Genomic Interval Queries Using Augmented Range Trees. PMID:30911095
Familial Cerebral Cavernous Malformations. PMID:30909834
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. PMID:30905399
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping. PMID:30905398
Disease Heritability Enrichment of Regulatory Elements Is Concentrated in Elements with Ancient Sequence Age and Conserved Function across Species. PMID:30905396
Sensitive Periods for the Effect of Childhood Adversity on DNA Methylation: Results From a Prospective, Longitudinal Study. PMID:30905381
The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics. PMID:30903345
ORE identifies extreme expression effects enriched for rare variants. PMID:30903145
Perceptions of genetic variant reclassification in patients with inherited cardiac disease. PMID:30903112
Haploinsufficiency of ARHGAP42 is associated with hypertension. PMID:30903111
Genomic Analysis in the Age of Human Genome Sequencing. PMID:30901550
Personalized Medicine and the Power of Electronic Health Records. PMID:30901549
Exome and immune cell score analyses reveal great variation within synchronous primary colorectal cancers. PMID:30894686
Resolving the full spectrum of human genome variation using Linked-Reads. PMID:30894395
Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene. PMID:30893535
Next generation sequencing for clinical diagnostics: Five year experience of an academic laboratory. PMID:30891420
Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication. PMID:30891416
Undifferentiated Sarcomas Develop through Distinct Evolutionary Pathways. PMID:30889380
Predicting mutations deleterious to function in beta-lactamase TEM1 using MM-GBSA. PMID:30889230
An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease. PMID:30889179
HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. PMID:30887706
Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders. PMID:30887145
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals. PMID:30887117
Fine-Scale Characterization of Genomic Structural Variation in the Human Genome Reveals Adaptive and Biomedically Relevant Hotspots. PMID:30887040
Targeted sequencing of DCSTAMP in familial Paget's disease of bone. PMID:30886882
Adaptation and Phenotypic Diversification in Arabidopsis through Loss-of-Function Mutations in Protein-Coding Genes. PMID:30886128
Identification of new Wilms tumour predisposition genes: an exome sequencing study. PMID:30885698
From Big Data to Precision Medicine. PMID:30881956
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. PMID:30879640
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. PMID:30879638
Loss of function mutations in essential genes cause embryonic lethality in pigs. PMID:30875370
Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability. PMID:30874922
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. PMID:30872814
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency. PMID:30872718
Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. PMID:30871351
Genetic Spectrum of Arrhythmogenic Cardiomyopathy. PMID:30871346
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy. PMID:30868116
Analysis of error profiles in deep next-generation sequencing data. PMID:30867008
Exonic sequencing identifies TLR1 genetic variation associated with mortality in Thais with melioidosis. PMID:30866782
A systematic review and standardized clinical validity assessment of male infertility genes. PMID:30865283
Early-onset triple-negative breast cancer in multiracial/ethnic populations: Distinct trends of prevalence of truncation mutations. PMID:30864286
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. PMID:30862798
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1. PMID:30858804
Coexpression patterns define epigenetic regulators associated with neurological dysfunction. PMID:30858344
A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia. PMID:30854216
The genomic mutation spectrums of breast fibroadenomas in Chinese population by whole exome sequencing analysis. PMID:30851086
A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. PMID:30851085
Titin-truncating variants are associated with heart failure events in patients with left ventricular non-compaction cardiomyopathy. PMID:30851055
Deletions and loss-of-function variants in TP63 associated with orofacial clefting. PMID:30850703
Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer. PMID:30850667
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. PMID:30850373
2018 William Allan Award: Discovering the Genes for Common Disease: From Families to Populations. PMID:30849323
COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration. PMID:30847826
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. PMID:30847515
Genetic Variation in Pan Species Is Shaped by Demographic History and Harbors Lineage-Specific Functions. PMID:30847478
Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools. PMID:30846882
NAA10 polyadenylation signal variants cause syndromic microphthalmia. PMID:30842225
Trio Haploinsufficiency Causes Neurodevelopmental Disease-Associated Deficits. PMID:30840899
DENND5B Regulates Intestinal Triglyceride Absorption and Body Mass. PMID:30837651
Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease. PMID:30833663
Genome maps across 26 human populations reveal population-specific patterns of structural variation. PMID:30833565
Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis. PMID:30833417
Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease. PMID:30832413
Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis. PMID:30830987
Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease. PMID:30828346
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. PMID:30827498
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. PMID:30827497
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. PMID:30827496
Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings. PMID:30824715
Genomic Features of Exceptional Response in Vemurafenib ± Cobimetinib-treated Patients with BRAF V600-mutated Metastatic Melanoma. PMID:30824584
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. PMID:30824121
MMSplice: modular modeling improves the predictions of genetic variant effects on splicing. PMID:30823901
ANGPTL4 gene E40K variation protects against obesity-associated dyslipidemia in participants with obesity. PMID:30820332
Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families. PMID:30820146
Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice. PMID:30816434
SH2B3 inactivation through CN-LOH 12q is uniquely associated with B-cell precursor ALL with iAMP21 or other chromosome 21 gain. PMID:30816328
Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients. PMID:30816137
A gene-based recessive diplotype exome scan discovers FGF6, a novel hepcidin-regulating iron-metabolism gene. PMID:30814063
Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis. PMID:30811981
Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity. PMID:30811542
Exome sequencing in 51 early onset non-familial CRC cases. PMID:30809968
Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics. PMID:30809243
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. PMID:30809043
Brain expansion promoted by polycomb-mediated anterior enhancement of a neural stem cell proliferation program. PMID:30807568
Association of Genetic Variants in NUDT15 With Thiopurine-Induced Myelosuppression in Patients With Inflammatory Bowel Disease. PMID:30806694
Identification of common genetic risk variants for autism spectrum disorder. PMID:30804558
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia. PMID:30804514
A diagnosis of discernment: Identifying a novel ATRX mutation in myelodysplastic syndrome with acquired α-thalassemia. PMID:30803555
Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy. PMID:30802431
Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome. PMID:30797980
A Model Information Management Plan for Molecular Pathology Sequence Data Using Standards: From Sequencer to Electronic Health Record. PMID:30797065
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy. PMID:30796334
Analytical Validation of Variants to Aid in Genotype-Guided Therapy for Oncology. PMID:30794985
GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease. PMID:30792735
Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma. PMID:30792187
Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways. PMID:30788456
Toward automation of germline variant curation in clinical cancer genetics. PMID:30787465
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors. PMID:30784590
Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients. PMID:30781664
A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing. PMID:30775047
A New Panel-Based Next-Generation Sequencing Method for ADME Genes Reveals Novel Associations of Common and Rare Variants With Expression in a Human Liver Cohort. PMID:30766545
Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans. PMID:30765821
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. PMID:30761183
A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing. PMID:30760880
Novel mutations of AXIN2 identified in a Chinese Congenital Heart Disease Cohort. PMID:30760879
Establishment, molecular and biological characterization of HCB-514: a novel human cervical cancer cell line. PMID:30760827
A scalable, aggregated genotypic-phenotypic database for human disease variation. PMID:30759220
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. PMID:30755616
Variation in the repulsive guidance molecule family in human populations. PMID:30746893
Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr). PMID:30745123
NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans. PMID:30744685
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. PMID:30744660
How good are pathogenicity predictors in detecting benign variants? PMID:30742610
Cerebral hypomyelination associated with biallelic variants of FIG4. PMID:30740813
The TYK2-P1104A Autoimmune Protective Variant Limits Coordinate Signals Required to Generate Specialized T Cell Subsets. PMID:30740104
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. PMID:30739909
Clinical spectrum of STX1B-related epileptic disorders. PMID:30737342
Targeted mutation detection in breast cancer using MammaSeq™. PMID:30736836
Predicting clinically promising therapeutic hypotheses using tensor factorization. PMID:30736745
Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene. PMID:30736458
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation. PMID:30735170
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. PMID:30732576
Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection. PMID:30730286
Impact of NUDT15 genetics on severe thiopurine-related hematotoxicity in patients with European ancestry. PMID:30728528
Genes encoding SATB2-interacting proteins in adult cerebral cortex contribute to human cognitive ability. PMID:30726206
CVID-Associated Tumors: Czech Nationwide Study Focused on Epidemiology, Immunology, and Genetic Background in a Cohort of Patients With CVID. PMID:30723478
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. PMID:30723319
ALPL mutations in adults with rheumatologic disorders and low serum alkaline phosphatase activity. PMID:30719581
LRP1B Polymorphisms Are Associated with Multiple Myeloma Risk in a Chinese Han Population. PMID:30719154
An essential role for the Zn2+ transporter ZIP7 in B cell development. PMID:30718914
Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes. PMID:30718883
The genomics of major psychiatric disorders in a large pedigree from Northern Sweden. PMID:30718465
Prevalence of Germline Mutations Associated With Cancer Risk in Patients With Intraductal Papillary Mucinous Neoplasms. PMID:30716324
Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish. PMID:30715179
An evolutionary approach to optimizing glucose-6-phosphatase-α enzymatic activity for gene therapy of glycogen storage disease type Ia. PMID:30714174
Prolonged stable disease in a uveal melanoma patient with germline MBD4 nonsense mutation treated with pembrolizumab and ipilimumab. PMID:30714079
Biophysical and Mechanistic Models for Disease-Causing Protein Variants. PMID:30712981
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. PMID:30712880
Risk gene-set and pathways in 22q11.2 deletion-related schizophrenia: a genealogical molecular approach. PMID:30710087
Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression. PMID:30709877
Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2. PMID:30709874
A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report. PMID:30704477
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients. PMID:30702160
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings. PMID:30700791
A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia. PMID:30700765
Significant abundance of cis configurations of coding variants in diploid human genomes. PMID:30698752
Arginine to Glutamine Variant in Olfactomedin Like 3 (OLFML3) Is a Candidate for Severe Goniodysgenesis and Glaucoma in the Border Collie Dog Breed. PMID:30696701
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy. PMID:30696458
Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease. PMID:30693022
Styk1 expression is a hallmark of murine NK cells and other NK1.1+ subsets but is dispensable for NK-cell development and effector functions. PMID:30690705
A review of innate and adaptive immunity to coccidioidomycosis. PMID:30690602
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. PMID:30688039
#CRISPRbabies: Notes on a Scandal. PMID:30687814
Role of Segregation for Variant Discovery in Multiplex Families Ascertained by Probands With Left Sided Cardiovascular Malformations. PMID:30687393
Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance. PMID:30686509
Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data. PMID:30683924
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency. PMID:30682498
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. PMID:30682224
Mutation screening in non-syndromic hearing loss patients with cochlear implantation by massive parallel sequencing in Taiwan. PMID:30682115
Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma. PMID:30680959
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. PMID:30679813
HSPA12A targets the cytoplasmic domain and affects the trafficking of the Amyloid Precursor Protein receptor SorLA. PMID:30679749
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland. PMID:30679432
Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use. PMID:30679032
Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants. PMID:30678654
Multiple mechanisms underlie increased cardiac late sodium current. PMID:30677491
Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors. PMID:30676620
Genetic and environmental risk factors for chronic kidney disease. PMID:30675423
Both rare and common genetic variants contribute to autism in the Faroe Islands. PMID:30675382
Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis. PMID:30675030
Complement Gene Variants and Shiga Toxin-Producing Escherichia coli-Associated Hemolytic Uremic Syndrome: Retrospective Genetic and Clinical Study. PMID:30674459
A nonhuman primate model of inherited retinal disease. PMID:30667376
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. PMID:30665704
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. PMID:30665703
A Missense Variant in PTPN22 is a Risk Factor for Drug-induced Liver Injury. PMID:30664875
Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection. PMID:30664766
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. PMID:30664714
Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma. PMID:30664638
Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry. PMID:30662450
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. PMID:30661772
Characterizing the Major Structural Variant Alleles of the Human Genome. PMID:30661756
MYORG is associated with recessive primary familial brain calcification. PMID:30656188
A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation. PMID:30656044
Insights into genetics, human biology and disease gleaned from family based genomic studies. PMID:30655598
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. PMID:30655572
An interaction-based model for neuropsychiatric features of copy-number variants. PMID:30653500
A novel frameshift PKD1 mutation in a Chinese patient with autosomal dominant polycystic kidney disease and azoospermia: A case report. PMID:30651829
Pattern Recognition Receptor Polymorphisms as Predictors of Oxaliplatin Benefit in Colorectal Cancer. PMID:30649440
GLIS Rearrangement is a Genomic Hallmark of Hyalinizing Trabecular Tumor of the Thyroid Gland. PMID:30648929
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS. PMID:30647093
Association of Diagnosis of Leukodystrophy With Race and Ethnicity Among Pediatric and Adolescent Patients. PMID:30646379
[Exome diagnostics in neurology]. PMID:30645660
Long-term expanding human airway organoids for disease modeling. PMID:30643021
A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia. PMID:30642273
Inductive determination of allele frequency spectrum probabilities in structured populations. PMID:30641073
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. PMID:30639323
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. PMID:30639322
Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION. PMID:30637984
A rigorous measure of genome-wide genetic shuffling that takes into account crossover positions and Mendel's second law. PMID:30635424
Characterisation of a type II functionally-deficient variant of alpha-1-antitrypsin discovered in the general population. PMID:30633749
Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene. PMID:30632081
Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition. PMID:30630937
Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population. PMID:30630528
GATA6 Cooperates with EOMES/SMAD2/3 to Deploy the Gene Regulatory Network Governing Human Definitive Endoderm and Pancreas Formation. PMID:30629940
Indigenous Peoples and genomics: Starting a conversation. PMID:30629780
A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling. PMID:30629636
Increased frequency of rare missense PPP1R3B variants among Danish patients with type 2 diabetes. PMID:30629617
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach. PMID:30626929
Impact of High-Molecular-Risk Mutations on Transplantation Outcomes in Patients with Myelofibrosis. PMID:30625392
Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells. PMID:30623132
Genetic architecture of laterality defects revealed by whole exome sequencing. PMID:30622330
Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition. PMID:30622101
Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1. PMID:30619714
Whole-Genome Sequencing Identifies a Novel Variation of WAS Gene Coordinating With Heterozygous Germline Mutation of APC to Enhance Hepatoblastoma Oncogenesis. PMID:30619485
Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder. PMID:30619482
Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing. PMID:30619459
Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments. PMID:30619446
Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa. PMID:30619256
Role of Follicle-Stimulating Hormone in Spermatogenesis. PMID:30619093
Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population. PMID:30619065
Autosomal Dominant Gene Negative Frontotemporal Dementia-Think of SCA17. PMID:30617627
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth. PMID:30615648
INDEX-db: The Indian Exome Reference Database (Phase I). PMID:30615482
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies. PMID:30612693
Cancer susceptibility gene mutations in type I and II endometrial cancer. PMID:30612635
Clinical implications of germline mutations in breast cancer genes: RECQL. PMID:30610487
An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function. PMID:30610205
Rare mutations of ADAM17 from TOFs induce hypertrophy in human embryonic stem cell-derived cardiomyocytes via HB-EGF signaling. PMID:30610007
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture. PMID:30609406
Folding and Misfolding of Human Membrane Proteins in Health and Disease: From Single Molecules to Cellular Proteostasis. PMID:30608666
Systems Genetics Approaches in Rat Identify Novel Genes and Gene Networks Associated With Cardiac Conduction. PMID:30608189
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. PMID:30607703
Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene. PMID:30606247
Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis. PMID:30604180
Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract. PMID:30604070
Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype-phenotype correlations. PMID:30603774
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set. PMID:30602777
ZNF445 is a primary regulator of genomic imprinting. PMID:30602440
Genomic Sequencing Expansion and Incomplete Penetrance. PMID:30600267
Natural helix 9 mutants of PPARγ differently affect its transcriptional activity. PMID:30595551
High-Throughput Sequencing in Respiratory, Critical Care, and Sleep Medicine Research. An Official American Thoracic Society Workshop Report. PMID:30592451
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. PMID:30591564
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis. PMID:30591557
Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant. PMID:30591068
iMEGES: integrated mental-disorder GEnome score by deep neural network for prioritizing the susceptibility genes for mental disorders in personal genomes. PMID:30591030
Systematics for types and effects of DNA variations. PMID:30591019
Development of a rapid functional assay that predicts GLUT1 disease severity. PMID:30588498
Pathogenicity and selective constraint on variation near splice sites. PMID:30587507
Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma. PMID:30586141
Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation. PMID:30584598
A theory for polymicrogyria and brain arteriovenous malformations in HHT. PMID:30584075
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. PMID:30580808
The copy number variation landscape of congenital anomalies of the kidney and urinary tract. PMID:30578417
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant. PMID:30578352
Ensembl variation resources. PMID:30576484
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. PMID:30576320
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy. PMID:30575854
Calmodulinopathy: A Novel, Life-Threatening Clinical Entity Affecting the Young. PMID:30574507
High-resolution mapping of cancer cell networks using co-functional interactions. PMID:30573688
A resource of variant effect predictions of single nucleotide variants in model organisms. PMID:30573687
High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance. PMID:30571187
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum. PMID:30568308
The sequencing and interpretation of the genome obtained from a Serbian individual. PMID:30566479
Relative impact of indels versus SNPs on complex disease. PMID:30565766
Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception? PMID:30565424
Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms. PMID:30565237
Commentary to: Masoli et al. Clinical Outcomes of CADASIL-Associated NOTCH3 mutations in 451,424 European Ancestry Community Volunteers. (Translational Stroke Research Oct 2018). PMID:30565089
PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome. PMID:30564627
Structural basis for the specificity of renin-mediated angiotensinogen cleavage. PMID:30563843
Identifying mouse developmental essential genes using machine learning. PMID:30563825
The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders. PMID:30563709
ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics. PMID:30563187
Towards a Central Role of ISL1 in the Bladder Exstrophy⁻Epispadias Complex (BEEC): Computational Characterization of Genetic Variants and Structural Modelling. PMID:30563179
Desmoplakin Variant-Associated Arrhythmogenic Cardiomyopathy Presenting as Acute Myocarditis. PMID:30562115
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes. PMID:30561119
MicroRNA-197 controls ADAM10 expression to mediate MeCP2's role in the differentiation of neuronal progenitors. PMID:30560934
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. PMID:30559488
Diagnosing rare diseases after the exome. PMID:30559314
Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk. PMID:30559312
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype. PMID:30558655
Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection. PMID:30556619
Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing. PMID:30556293
Molecular profiling of longitudinally observed small colorectal polyps: A cohort study. PMID:30555044
Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity. PMID:30554901
Evidence for Weak Selective Constraint on Human Gene Expression. PMID:30554168
Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome. PMID:30548424
A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria. PMID:30547231
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. PMID:30545852
CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency. PMID:30545847
GRIN2A-related disorders: genotype and functional consequence predict phenotype. PMID:30544257
A somatic activating NRAS variant associated with kaposiform lymphangiomatosis. PMID:30542204
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy. PMID:30541864
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database. PMID:30541431
V2-Directed Vaccine-like Antibodies from HIV-1 Infection Identify an Additional K169-Binding Light Chain Motif with Broad ADCC Activity. PMID:30540944
Linear mixed models for association analysis of quantitative traits with next-generation sequencing data. PMID:30537345
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment. PMID:30535804
PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations. PMID:30535305
Systematic domain-based aggregation of protein structures highlights DNA-, RNA- and other ligand-binding positions. PMID:30535108
Perspectives on the Genomics of HSP Beyond Mendelian Inheritance. PMID:30534106
Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations. PMID:30533525
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. PMID:30532227
Common-variant associations with fragile X syndrome. PMID:30531935
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield. PMID:30531895
A map of constrained coding regions in the human genome. PMID:30531870
Genetic analysis of neurodegenerative diseases in a pathology cohort. PMID:30528841
Inferring Transmission Histories of Rare Alleles in Population-Scale Genealogies. PMID:30526866
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing. PMID:30526634
PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy. PMID:30525118
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework. PMID:30523343
Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics. PMID:30520965
A Simple Guideline to Assess the Characteristics of RNA-Seq Data. PMID:30519573
Loss of the candidate tumor suppressor ZEB1 (TCF8, ZFHX1A) in Sézary syndrome. PMID:30518749
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population. PMID:30516811
Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease. PMID:30514708
CTCF Expression is Essential for Somatic Cell Viability and Protection Against Cancer. PMID:30513694
Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts. PMID:30511478
Error-prone bypass of DNA lesions during lagging-strand replication is a common source of germline and cancer mutations. PMID:30510240
Molecular analysis of NPAS3 functional domains and variants. PMID:30509165
Implementing tumor mutational burden (TMB) analysis in routine diagnostics-a primer for molecular pathologists and clinicians. PMID:30505715
Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels. PMID:30504931
Ankyrin-G regulates forebrain connectivity and network synchronization via interaction with GABARAP. PMID:30504823
The interface between phosphatidylinositol transfer protein function and phosphoinositide signaling in higher eukaryotes. PMID:30504233
A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions. PMID:30503770
The Genetic Landscape of Diamond-Blackfan Anemia. PMID:30503522
OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data. PMID:30503520
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. PMID:30503519
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. PMID:30500825
Towards a Regional Registry of Extended Typed Blood Donors: Molecular Typing for Blood Group, Platelet and Granulocyte Antigens. PMID:30498411
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance. PMID:30498240
Loss of human ICOSL results in combined immunodeficiency. PMID:30498080
Representativeness of variation benchmark datasets. PMID:30497376
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase. PMID:30497360
SeqVItA: Sequence Variant Identification and Annotation Platform for Next Generation Sequencing Data. PMID:30487811
High-frequency actionable pathogenic exome variants in an average-risk cohort. PMID:30487145
Human Calmodulin Mutations. PMID:30483049
Large-scale associations between the leukocyte transcriptome and BOLD responses to speech differ in autism early language outcome subtypes. PMID:30482947
Hypokalemia Associated With a Claudin 10 Mutation: A Case Report. PMID:30482581
Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine. PMID:30482208
Workload measurement for molecular genetics laboratory: A survey study. PMID:30481188
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis. PMID:30479745
Targeted Screening for Predominant CYP1B1 Mutations in Primary Congenital Glaucoma. PMID:30479704
Phylogenetic and mutational analyses of human LEUTX, a homeobox gene implicated in embryogenesis. PMID:30479355
The role of de novo mutations in adult-onset neurodegenerative disorders. PMID:30478624
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. PMID:30478444
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. PMID:30478443
GRIPT: a novel case-control analysis method for Mendelian disease gene discovery. PMID:30477545
Sequence variants associating with urinary biomarkers. PMID:30476138
Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes. PMID:30473481
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. PMID:30471716
GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy. PMID:30467490
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia. PMID:30467204
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium. PMID:30464253
Variant information systems for precision oncology. PMID:30463544
First reported adult patient with TARP syndrome: A case report. PMID:30462380
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population. PMID:30459467
Interaction modulation through arrays of clustered methyl-arginine protein modifications. PMID:30456387
GATA4 variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development. PMID:30455927
Single nucleotide polymorphisms alter kinase anchoring and the subcellular targeting of A-kinase anchoring proteins. PMID:30455320
Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy. PMID:30452684
Elevation in Cell Cycle and Protein Metabolism Gene Transcription in Inactive Colonic Tissue From Icelandic Patients With Ulcerative Colitis. PMID:30452647
Large-scale in-silico statistical mutagenesis analysis sheds light on the deleteriousness landscape of the human proteome. PMID:30451933
High proportion of transient neonatal zinc deficiency causing alleles in the general population. PMID:30450693
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. PMID:30449657
Actionable Activating Oncogenic ERBB2/HER2 Transmembrane and Juxtamembrane Domain Mutations. PMID:30449325
OMIM.org: leveraging knowledge across phenotype-gene relationships. PMID:30445645
Association of prolactin receptor (PRLR) variants with prolactinomas. PMID:30445560
Cell-Free DNA From Metastatic Pancreatic Neuroendocrine Tumor Patients Contains Tumor-Specific Mutations and Copy Number Variations. PMID:30443491
Identification of novel LEPR mutations in Pakistani families with morbid childhood obesity. PMID:30442103
Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism. PMID:30430143
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm. PMID:30430034
Identification of TEX101-associated Proteins Through Proteomic Measurement of Human Spermatozoa Homozygous for the Missense Variant rs35033974. PMID:30429210
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation. PMID:30425284
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. PMID:30424743
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency. PMID:30422821
In vivo hematopoietic stem cell gene therapy ameliorates murine thalassemia intermedia. PMID:30422819
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. PMID:30421579
Challenges in the introduction of next-generation sequencing (NGS) for diagnostics of myeloid malignancies into clinical routine use. PMID:30420667
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. PMID:30420557
Next-Generation Sequencing in Autism Spectrum Disorder. PMID:30420340
Targeted Sequencing of 10,198 Samples Confirms Abnormalities in Neuronal Activity and Implicates Voltage-Gated Sodium Channels in Schizophrenia Pathogenesis. PMID:30420267
SETD2 mutations in primary central nervous system tumors. PMID:30419952
Expanding the clinical phenotype of IARS2-related mitochondrial disease. PMID:30419932
Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in MERTK causing severe retinitis pigmentosa. PMID:30416333
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. PMID:30414627
A comprehensive map of single-base polymorphisms in the hypervariable LPA kringle IV type 2 copy number variation region. PMID:30413653
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. PMID:30409984
Quantifying the contribution of recessive coding variation to developmental disorders. PMID:30409806
HD-Marker: a highly multiplexed and flexible approach for targeted genotyping of more than 10,000 genes in a single-tube assay. PMID:30409770
AFLP-AFLP in silico-NGS approach reveals polymorphisms in repetitive elements in the malignant genome. PMID:30408048
The UCSC Genome Browser database: 2019 update. PMID:30407534
Ensembl 2019. PMID:30407521
Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency. PMID:30406445
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits. PMID:30405126
Phosphorylation of Parkin at serine 65 is essential for its activation in vivo. PMID:30404819
Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry. PMID:30403697
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature. PMID:30402260
A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico. PMID:30400234
Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients. PMID:30398534
Ensemble learning for detecting gene-gene interactions in colorectal cancer. PMID:30397551
A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data. PMID:30397337
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. PMID:30397230
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. PMID:30395363
DrugThatGene: integrative analysis to streamline the identification of druggable genes, pathways and protein complexes from CRISPR screens. PMID:30395160
Widespread Selection for Oncogenic Mutant Allele Imbalance in Cancer. PMID:30393068
Ways of improving precise knock-in by genome-editing technologies. PMID:30390160
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family. PMID:30389958
DNA Sequence Variation in ACVR1C Encoding the Activin Receptor-Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 Diabetes. PMID:30389748
The ARMS2 A69S Polymorphism Is Associated with Delayed Rod-Mediated Dark Adaptation in Eyes at Risk for Incident Age-Related Macular Degeneration. PMID:30389424
An RNAi screen in human cell lines reveals conserved DNA damage repair pathways that mitigate formaldehyde sensitivity. PMID:30389308
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. PMID:30388402
Increasing evidence of combinatory variant effects calls for revised classification of low-penetrance alleles. PMID:30385887
Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia. PMID:30382371
"Infostery" analysis of short molecular dynamics simulations identifies highly sensitive residues and predicts deleterious mutations. PMID:30382169
Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome. PMID:30377230
VarSome: the human genomic variant search engine. PMID:30376034
Quantitative evaluation of incomplete preweaning lethality in mice by using the CRISPR/Cas9 system. PMID:30375401
Using human sequencing to guide craniofacial research. PMID:30375152
Impact of somatic and germline mutations on the outcome of systemic mastocytosis. PMID:30373888
Evaluation of whole exome sequencing as an alternative to BeadChip and whole genome sequencing in human population genetic analysis. PMID:30373510
Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy. PMID:30372544
CADD: predicting the deleteriousness of variants throughout the human genome. PMID:30371827
Genotype-Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction Cardiomyopathy. PMID:30371277
Population data improves variant interpretation in autosomal dominant polycystic kidney disease. PMID:30369598
Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation. PMID:30369311
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. PMID:30369044
Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes. PMID:30367527
Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds. PMID:30365510
First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features. PMID:30364145
A Young Male with Parafibromin-Deficient Parathyroid Carcinoma Due to a Rare Germline HRPT2/CDC73 Mutation. PMID:30361844
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. PMID:30361506
CRISPR-Cas9 human gene replacement and phenomic characterization in Caenorhabditis elegans to understand the functional conservation of human genes and decipher variants of uncertain significance. PMID:30361258
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES). PMID:30359267
Genetic approaches to metabolic bone diseases. PMID:30357886
GENCODE reference annotation for the human and mouse genomes. PMID:30357393
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. PMID:30356099
Functional testing of a human PBX3 variant in zebrafish reveals a potential modifier role in congenital heart defects. PMID:30355621
KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes. PMID:30355503
GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease. PMID:30355306
From Genotype to Phenotype. PMID:30354302
Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension. PMID:30354297
Allele balance bias identifies systematic genotyping errors and false disease associations. PMID:30353964
The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design. PMID:30353151
DNA Sequencing of Small Bowel Adenocarcinomas Identifies Targetable Recurrent Mutations in the ERBB2 Signaling Pathway. PMID:30352910
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis. PMID:30352134
A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia. PMID:30349881
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. PMID:30349862
Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer. PMID:30348992
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. PMID:30345904
Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy. PMID:30345660
Genomic profiling of synchronous triple primary tumors of the lung, thyroid and kidney in a young female patient: A case report. PMID:30344752
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. PMID:30343943
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. PMID:30343942
Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk. PMID:30343897
TBL1Y: a new gene involved in syndromic hearing loss. PMID:30341416
DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. PMID:30339877
Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing. PMID:30339520
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region. PMID:30337552
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. PMID:30335141
The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent. PMID:30333958
Functional genomic landscape of acute myeloid leukaemia. PMID:30333627
Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation. PMID:30333491
Genetic and secondary causes of severe HDL deficiency and cardiovascular disease. PMID:30333156
Characterization of Nigerian breast cancer reveals prevalent homologous recombination deficiency and aggressive molecular features. PMID:30327465
ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans. PMID:30326945
ProxECAT: Proxy External Controls Association Test. A new case-control gene region association test using allele frequencies from public controls. PMID:30325923
High prevalence of focal and multi-focal somatic genetic variants in the human brain. PMID:30323172
TRPM7 and CaV3.2 channels mediate Ca2+ influx required for egg activation at fertilization. PMID:30322909
Dravet syndrome in South African infants: Tools for an early diagnosis. PMID:30321769
A synonymous RET substitution enhances the oncogenic effect of an in-cis missense mutation by increasing constitutive splicing efficiency. PMID:30321177
Alcohol Dehydrogenases, Aldehyde Dehydrogenases, and Alcohol Use Disorders: A Critical Review. PMID:30320893
Network, Transcriptomic and Genomic Features Differentiate Genes Relevant for Drug Response. PMID:30319692
A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy. PMID:30319454
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning. PMID:30319441
Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels. PMID:30315176
Predicting variant deleteriousness in non-human species: applying the CADD approach in mouse. PMID:30314430
Genomic coordinates and continental distribution of 120 blood group variants reported by the 1000 Genomes Project. PMID:30312480
Single-nucleotide variants in human RNA: RNA editing and beyond. PMID:30312373
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. PMID:30311390
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework. PMID:30311384
Updated recommendation for the benign stand-alone ACMG/AMP criterion. PMID:30311383
The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants. PMID:30311381
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. PMID:30311380
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. PMID:30311378
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. PMID:30311377
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. PMID:30311375
ClinGen Allele Registry links information about genetic variants. PMID:30311374
The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics. PMID:30311373
The progression of the ClinGen gene clinical validity classification over time. PMID:30311372
Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility. PMID:30310178
A polymorphic residue that attenuates the antiviral potential of interferon lambda 4 in hominid lineages. PMID:30308076
Copy number variation and neuropsychiatric problems in females and males in the general population. PMID:30307693
The UK Biobank resource with deep phenotyping and genomic data. PMID:30305743
The 10,000 Immunomes Project: Building a Resource for Human Immunology. PMID:30304689
Framework for microRNA variant annotation and prioritization using human population and disease datasets. PMID:30302893
PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia. PMID:30302010
Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy. PMID:30301903
De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis. PMID:30298087
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. PMID:30297969
Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations. PMID:30297966
The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility. PMID:30297906
Combinatorial Approach for Complex Disorder Prediction: Case Study of Neurodevelopmental Disorders. PMID:30297454
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. PMID:30295347
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder. PMID:30290153
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts. PMID:30290152
Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits. PMID:30290150
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. PMID:30287823
Tumorigenicity-associated characteristics of human iPS cell lines. PMID:30286143
Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI. PMID:30283904
Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy. PMID:30283818
Mechanisms of Regulated and Dysregulated CARD11 Signaling in Adaptive Immunity and Disease. PMID:30283447
Extended Donor Typing by Pooled Capillary Electrophoresis: Impact in a Routine Setting. PMID:30283272
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. PMID:30283131
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development. PMID:30279698
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. PMID:30279509
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. PMID:30279455
Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder. PMID:30276537
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. PMID:30275531
Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature. PMID:30275004
Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. PMID:30275001
Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture. PMID:30274822
A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin. PMID:30271932
Erythrocytes lacking the Langereis blood group protein ABCB6 are resistant to the malaria parasite Plasmodium falciparum. PMID:30271928
Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data. PMID:30269813
NBEA: Developmental disease gene with early generalized epilepsy phenotypes. PMID:30269351
Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome. PMID:30268395
Rare loss of function variants in candidate genes and risk of colorectal cancer. PMID:30267214
Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes. PMID:30266296
A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder. PMID:30262571
A weighted burden test using logistic regression for integrated analysis of sequence variants, copy number variants and polygenic risk score. PMID:30258123
Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation. PMID:30258122
Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria. PMID:30257646
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. PMID:30257206
A Patient-derived Xenograft Model of Pancreatic Neuroendocrine Tumors Identifies Sapanisertib as a Possible New Treatment for Everolimus-resistant Tumors. PMID:30254185
Correlation of PD-L1 Expression with Tumor Mutation Burden and Gene Signatures for Prognosis in Early-Stage Squamous Cell Lung Carcinoma. PMID:30253973
Mutations of genes including DNMT3A detected by next-generation sequencing in thyroid cancer. PMID:30252567
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. PMID:30252044
The cargo receptor SURF4 promotes the efficient cellular secretion of PCSK9. PMID:30251625
Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene. PMID:30250174
Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype. PMID:30250054
A universal SNP and small-indel variant caller using deep neural networks. PMID:30247488
Exome sequencing study of 20 patients with high myopia. PMID:30245926
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. PMID:30245513
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes. PMID:30245029
Cancer Mutations of the Tumor Suppressor SPOP Disrupt the Formation of Active, Phase-Separated Compartments. PMID:30244836
Identification novel LQT syndrome-associated variants in Polish population and genotype-phenotype correlations in eight families. PMID:30244407
The genetic architecture of aniridia and Gillespie syndrome. PMID:30242502
The critical needs and challenges for genetic architecture studies in Africa. PMID:30240950
matchbox: An open-source tool for patient matching via the Matchmaker Exchange. PMID:30240502
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism. PMID:30240412
Integrating hypertension phenotype and genotype with hybrid non-negative matrix factorization. PMID:30239588
A cancer associated somatic mutation in LC3B attenuates its binding to E1-like ATG7 protein and subsequent lipidation. PMID:30238850
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia. PMID:30238501
Clinical Mass Spectrometry in the Bioinformatics Era: A Hitchhiker's Guide. PMID:30237866
Structure-Guided Identification of a Nonhuman Morbillivirus with Zoonotic Potential. PMID:30232185
International Union of Basic and Clinical Pharmacology. CV. Somatostatin Receptors: Structure, Function, Ligands, and New Nomenclature. PMID:30232095
Exome scale map of genetic alterations promoting metastasis in colorectal cancer. PMID:30231850
Acquired Cystic Fibrosis Transmembrane Conductance Regulator Dysfunction and Radiographic Bronchiectasis in Current and Former Smokers: A Cross-Sectional Study. PMID:30230364
Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population. PMID:30228974
Analysis of Racial/Ethnic Representation in Select Basic and Applied Cancer Research Studies. PMID:30228363
Large-scale investigation of the reasons why potentially important genes are ignored. PMID:30226837
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. PMID:30224647
Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer. PMID:30224629
A sequence-based, deep learning model accurately predicts RNA splicing branchpoints. PMID:30224349
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene. PMID:30223810
Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas. PMID:30217226
Secondary findings in 421 whole exome-sequenced Chinese children. PMID:30217213
Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration. PMID:30215852
Frequency and signature of somatic variants in 1461 human brain exomes. PMID:30214067
Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa. PMID:30210231
Do GWAS and studies of heterozygotes for NPC1 and/or NPC2 explain why NPC disease cases are so rare? PMID:30209687
Accurate classification of BRCA1 variants with saturation genome editing. PMID:30209399
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia. PMID:30209273
GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report. PMID:30208878
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. PMID:30208423
Pediatric melanoma in melanoma-prone families. PMID:30207590
Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction. PMID:30206291
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. PMID:30192042
γ2 GABAAR Trafficking and the Consequences of Human Genetic Variation. PMID:30190672
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. PMID:30190612
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II. PMID:30187681
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes. PMID:30187164
A machine learning approach for somatic mutation discovery. PMID:30185652
SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes. PMID:30184194
Traditional clinical criteria outperform high-sensitivity C-reactive protein for the screening of hepatic nuclear factor 1 alpha maturity-onset diabetes of the young among young Asians with diabetes. PMID:30181854
The prognostic effects of somatic mutations in ER-positive breast cancer. PMID:30181556
Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes. PMID:30180840
Immunogenomic analyses associate immunological alterations with mismatch repair defects in prostate cancer. PMID:30179225
Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk. PMID:30177862
EPHA2 sequence variants are associated with susceptibility to Kaposi's sarcoma-associated herpesvirus infection and Kaposi's sarcoma prevalence in HIV-infected patients. PMID:30176543
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. PMID:30174453
Quantitative Activity Profile and Context Dependence of All Human 5' Splice Sites. PMID:30174293
A Comprehensive Map of Genetic Variation in the World's Largest Ethnic Group-Han Chinese. PMID:30169787
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). PMID:30167850
Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease. PMID:30167848
Elucidating the transactivation domain of the pleiotropic transcription factor Myrf. PMID:30166609
Targeted Gene Sequencing in Children with Crohn's Disease and Their Parents: Implications for Missing Heritability. PMID:30166421
No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy. PMID:30161220
Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases. PMID:30158844
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. PMID:30158690
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PMID:30157172
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study. PMID:30155607
Variation among intact tissue samples reveals the core transcriptional features of human CNS cell classes. PMID:30154505
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. PMID:30151950
Regulation of Adult Neurogenesis by the Fragile X Family of RNA Binding Proteins. PMID:30151344
MAP1B mutations cause intellectual disability and extensive white matter deficit. PMID:30150678
Rare gene deletions in genetic generalized and Rolandic epilepsies. PMID:30148849
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility. PMID:30148830
Structural analysis of clinically relevant pathogenic G6PD variants reveals the importance of tetramerization for G6PD activity. PMID:30148135
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome. PMID:30147881
The THO Complex Coordinates Transcripts for Synapse Development and Dopamine Neuron Survival. PMID:30146163
A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report. PMID:30144815
Genes that make you fat, but keep you healthy. PMID:30144199
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. PMID:30143558
Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome. PMID:30142437
Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals. PMID:30140897
Biotinylated amplicon sequencing: A method for preserving DNA samples of limited quantity. PMID:30140723
Novel Variants Identified in Multiple Sclerosis Patients From Southern China. PMID:30140248
DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis. PMID:30139987
Functional diversity of TMPRSS6 isoforms and variants expressed in hepatocellular carcinoma cell lines. PMID:30135444
Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing. PMID:30135240
Bridging Genomics to Phenomics at Atomic Resolution through Variation Spatial Profiling. PMID:30134164
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. PMID:30131872
Primary resistance of human patients to botulinum neurotoxins A and B. PMID:30128321
Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk. PMID:30127527
Identification of Novel Candidate Markers of Type 2 Diabetes and Obesity in Russia by Exome Sequencing with a Limited Sample Size. PMID:30126146
Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease. PMID:30124884
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia. PMID:30124836
Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders. PMID:30123105
Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men. PMID:30122541
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism. PMID:30122539
Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot. PMID:30122538
A Hotspot for Disease-Associated Variants of Human PGM1 Is Associated with Impaired Ligand Binding and Loop Dynamics. PMID:30122451
Genetics of Severe Obesity. PMID:30121879
Confirmation of GLRA3 as a susceptibility locus for albuminuria in Finnish patients with type 1 diabetes. PMID:30120300
Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM). PMID:30120215
RheoScale: A tool to aggregate and quantify experimentally determined substitution outcomes for multiple variants at individual protein positions. PMID:30117637
Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis. PMID:30116628
hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia. PMID:30115739
Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders. PMID:30115091
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease. PMID:30114415
Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma. PMID:30113886
Germline Variants and Risk for Pancreatic Cancer: A Systematic Review and Emerging Concepts. PMID:30113427
Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece. PMID:30111881
A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1. PMID:30111810
Identification of pathways and genes associated with cerebral palsy. PMID:30109564
Association study between multiple system atrophy and TREM2 p.R47H. PMID:30109269
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy. PMID:30109124
A study of Kibbutzim in Israel reveals risk factors for cardiometabolic traits and subtle population structure. PMID:30108283
Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer. PMID:30108113
SYT1-associated neurodevelopmental disorder: a case series. PMID:30107533
Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy. PMID:30105116
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. PMID:30104762
Genes associated with anhedonia: a new analysis in a large clinical trial (GENDEP). PMID:30104601
Computational resources associating diseases with genotypes, phenotypes and exposures. PMID:30102366
CharGer: clinical Characterization of Germline variants. PMID:30102335
Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing. PMID:30099541
Redox regulation of GRPEL2 nucleotide exchange factor for mitochondrial HSP70 chaperone. PMID:30098457
Candidate susceptibility variants in angioimmunoblastic T-cell lymphoma. PMID:30097855
The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions. PMID:30097731
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants. PMID:30096381
Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome. PMID:30095208
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar. PMID:30095202
Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms. PMID:30094183
Variants in the ABCA4 gene in a Brazilian population with Stargardt disease. PMID:30093795
The landscape of epilepsy-related GATOR1 variants. PMID:30093711
The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome. PMID:30092773
Realizing the significance of noncoding functionality in clinical genomics. PMID:30089779
Frequent basal cell cancer development is a clinical marker for inherited cancer susceptibility. PMID:30089731
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature. PMID:30089473
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease. PMID:30087448
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity. PMID:30086788
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. PMID:30084953
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. PMID:30079490
Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk. PMID:30076208
A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer. PMID:30075112
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. PMID:30075111
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration. PMID:30072743
Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family. PMID:30072699
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons. PMID:30072435
RNA variant identification discrepancy among splice-aware alignment algorithms. PMID:30071094
Genome-wide analysis of genetic determinants of circulating factor VII-activating protease (FSAP) activity. PMID:30070759
SPOP-Mutated/CHD1-Deleted Lethal Prostate Cancer and Abiraterone Sensitivity. PMID:30068710
The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses. PMID:30068544
E-cadherin signal sequence disruption: a novel mechanism underlying hereditary cancer. PMID:30068367
Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures. PMID:30067491
Comment on "Using Human 'Experiments of Nature' to Predict Drug Safety Issues: An Example with PCSK9 Inhibitors". PMID:30066314
Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene. PMID:30065954
Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome. PMID:30063093
The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers. PMID:30061496
Complex Haplotypes of GSTM1 Gene Deletions Harbor Signatures of a Selective Sweep in East Asian Populations. PMID:30061374
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. PMID:30060766
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease. PMID:30060175
Performance evaluation of pathogenicity-computation methods for missense variants. PMID:30060008
IRF2BPL Is Associated with Neurological Phenotypes. PMID:30057031
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. PMID:30057030
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. PMID:30057029
Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells. PMID:30054598
Genetic association of the cytochrome c oxidase-related genes with Alzheimer's disease in Han Chinese. PMID:30054583
NAA10-related syndrome. PMID:30054457
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. PMID:30054298
Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias. PMID:30052933
Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation. PMID:30050362
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children. PMID:30049826
MBD4 guards against methylation damage and germ line deficiency predisposes to clonal hematopoiesis and early-onset AML. PMID:30049810
Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants. PMID:30047259
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. PMID:30046887
Common VWF sequence variants associated with higher VWF and FVIII are less frequent in subjects diagnosed with type 1 VWD. PMID:30046743
Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes. PMID:30046645
An Intellectual Disability-Related Missense Mutation in Rac1 Prevents LTP Induction. PMID:30042656
Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis. PMID:30038786
A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy. PMID:30038614
Predicting the clinical impact of human mutation with deep neural networks. PMID:30038395
CDKN2A Germline Rare Coding Variants and Risk of Pancreatic Cancer in Minority Populations. PMID:30038052
Sequencing of the GBA coactivator, Saposin C, in Parkinson disease. PMID:30037697
Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease. PMID:30033951
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. PMID:30032986
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities. PMID:30032985
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. PMID:30032983
Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development. PMID:30032162
The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant. PMID:30032161
ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison. PMID:30029683
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease. PMID:30029678
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. PMID:30029624
Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants. PMID:30026763
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians. PMID:30026549
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. PMID:30026338
Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation. PMID:30026316
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? PMID:30025539
A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome. PMID:30023403
A Case of Adult-Onset Still's Disease Caused by a Novel Splicing Mutation in TNFAIP3 Successfully Treated With Tocilizumab. PMID:30022980
Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy. PMID:30022097
Molecular Deconvolution Platform to Establish Disease Mechanisms by Surveying GPCR Signaling. PMID:30021154
PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy. PMID:30020498
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. PMID:30019117
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders. PMID:30019023
CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence? PMID:30014597
Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish individuals. PMID:30014265
Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome. PMID:30013592
Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease. PMID:30009200
Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior. PMID:30008175
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas. PMID:30006736
Correcting the F508del-CFTR variant by modulating eukaryotic translation initiation factor 3-mediated translation initiation. PMID:30006345
Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families. PMID:30002862
Rho Guanine Nucleotide Exchange Factor ARHGEF17 Is a Risk Gene for Intracranial Aneurysms. PMID:29997225
Prioritization and functional assessment of noncoding variants associated with complex diseases. PMID:29996888
Analytical "bake-off" of whole genome sequencing quality for the Genome Russia project using a small cohort for autoimmune hepatitis. PMID:29995946
V232D mutation in patients with cystic fibrosis: Not so rare, not so mild. PMID:29995784
Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability. PMID:29991773
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease. PMID:29988079
Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy. PMID:29988065
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. PMID:29985992
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus. PMID:29983323
Loose ends: almost one in five human genes still have unresolved coding status. PMID:29982784
The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance. PMID:29980574
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence. PMID:29979746
Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL). PMID:29978154
Increased risk for inflammatory bowel disease in congenital hypothyroidism supports the existence of a shared susceptibility factor. PMID:29977049
Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation. PMID:29977033
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. PMID:29976978
Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity. PMID:29976977
Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients. PMID:29976937
Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene. PMID:29976739
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes. PMID:29974297
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy. PMID:29974258
Systematic discovery of germline cancer predisposition genes through the identification of somatic second hits. PMID:29973584
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment. PMID:29971487
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. PMID:29970384
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. PMID:29967526
Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy. PMID:29962935
Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders. PMID:29961769
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse. PMID:29961571
Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes. PMID:29961570
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. PMID:29961569
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. PMID:29961568
Endogenous Cell Type-Specific Disrupted in Schizophrenia 1 Interactomes Reveal Protein Networks Associated With Neurodevelopmental Disorders. PMID:29961565
Molecular analysis of an asbestos-exposed Belgian family with a high prevalence of mesothelioma. PMID:29961174
Expanding the phenotypic spectrum associated with OPHN1 variants. PMID:29960046
Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster. PMID:29959322
Whole‑exome sequencing analysis of products of conception identifies novel mutations associated with missed abortion. PMID:29956774
De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness. PMID:29955957
Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis. PMID:29955173
Primary brain calcification: an international study reporting novel variants and associated phenotypes. PMID:29955172
Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson's Disease and Dementia with Lewy Bodies. PMID:29948939
Quantification of Inflammasome Adaptor Protein ASC in Biological Samples by Multiple-Reaction Monitoring Mass Spectrometry. PMID:29948504
Analyses of the genetic diversity and protein expression variation of the acyl: CoA medium-chain ligases, ACSM2A and ACSM2B. PMID:29948332
GCH1 mutations in dopa-responsive dystonia and Parkinson's disease. PMID:29948246
Pancreatic cancer as a sentinel for hereditary cancer predisposition. PMID:29945567
appreci8: a pipeline for precise variant calling integrating 8 tools. PMID:29945233
Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits. PMID:29942083
DeTiN: overcoming tumor-in-normal contamination. PMID:29941871
LCCC 1025: a phase II study of everolimus, trastuzumab, and vinorelbine to treat progressive HER2-positive breast cancer brain metastases. PMID:29938395
Inferring Identical-by-Descent Sharing of Sample Ancestors Promotes High-Resolution Relative Detection. PMID:29937093
Natural Selection Has Differentiated the Progesterone Receptor among Human Populations. PMID:29937092
Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2. PMID:29936104
Multifactorial analysis of the stochastic epigenetic variability in cord blood confirmed an impact of common behavioral and environmental factors but not of in vitro conception. PMID:29930742
Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family. PMID:29930474
IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes. PMID:29930244
Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology. PMID:29930198
SNPs in inflammatory genes CCL11, CCL4 and MEFV in a fibromyalgia family study. PMID:29927949
Molecular insights into cardiomyopathies associated with desmin (DES) mutations. PMID:29926427
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. PMID:29925855
A Proteomic Variant Approach (ProVarA) for Personalized Medicine of Inherited and Somatic Disease. PMID:29924966
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent. PMID:29924831
Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect. PMID:29923154
Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency. PMID:29923089
Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency. PMID:29923087
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. PMID:29922827
Impact of lower uterine segment involvement in type II endometrial cancer and the unique mutational profile of serous tumors. PMID:29915797
Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease. PMID:29915322
GeNets: a unified web platform for network-based genomic analyses. PMID:29915188
Germline mutations and somatic inactivation of TRIM28 in Wilms tumour. PMID:29912901
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. PMID:29909963
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis. PMID:29909962
Epigenetic control of variation and stochasticity in metabolic disease. PMID:29909200
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis. PMID:29908077
Collaborative science unites researchers and a novel spastic ataxia gene. PMID:29908061
Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy. PMID:29907873
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. PMID:29907797
SET de novo frameshift variants associated with developmental delay and intellectual disabilities. PMID:29907757
The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports. PMID:29904178
De novo MYH9 mutation in congenital scalp hemangioma. PMID:29903892
A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay. PMID:29899504
Linking transcriptional and genetic tumor heterogeneity through allele analysis of single-cell RNA-seq data. PMID:29898899
Calculating the statistical significance of rare variants causal for Mendelian and complex disorders. PMID:29898714
Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization. PMID:29895960
Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia. PMID:29895895
Prevalence and properties of intragenic copy-number variation in Mendelian disease genes. PMID:29895855
The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY. PMID:29895593
9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus. PMID:29895553
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy. PMID:29892087
An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. PMID:29892012
Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration. PMID:29888403
Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy. PMID:29888333
A 72-Year-Old Patient with Longstanding, Untreated Familial Hypercholesterolemia but no Coronary Artery Calcification: A Case Report. PMID:29888156
Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas. PMID:29888014
Genetic Association with Subgingival Bacterial Colonization in Chronic Periodontitis. PMID:29882907
High-resolution comparative analysis of great ape genomes. PMID:29880660
Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases. PMID:29879995
Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers. PMID:29879922
Role of genetics in the prediction of statin-associated muscle symptoms and optimization of statin use and adherence. PMID:29878063
Genomic atlas of the human plasma proteome. PMID:29875488
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center. PMID:29875424
Development of the variant calling algorithm, ADIScan, and its use to estimate discordant sequences between monozygotic twins. PMID:29873758
Genetic Analysis of Rare Human Variants of Regulators of G Protein Signaling Proteins and Their Role in Human Physiology and Disease. PMID:29871944
Depleting Trim28 in adult mice is well tolerated and reduces levels of α-synuclein and tau. PMID:29863470
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. PMID:29861108
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. PMID:29861106
βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. PMID:29861105
Evaluating the causality of novel sequence variants in the prion protein gene by example. PMID:29861043
VarAFT: a variant annotation and filtration system for human next generation sequencing data. PMID:29860484
Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency. PMID:29859120
Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides. PMID:29858273
Genetic Inactivation of CD33 in Hematopoietic Stem Cells to Enable CAR T Cell Immunotherapy for Acute Myeloid Leukemia. PMID:29856956
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy. PMID:29855340
Somatic mutations in early onset luminal breast cancer. PMID:29854292
Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype. PMID:29852244
Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden. PMID:29849176
Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders. PMID:29849042
Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes. PMID:29848554
Long genes linked to autism spectrum disorders harbor broad enhancer-like chromatin domains. PMID:29848492
NUP155 insufficiency recalibrates a pluripotent transcriptome with network remodeling of a cardiogenic signaling module. PMID:29848314
Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing. PMID:29845114
Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing. PMID:29844917
The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy. PMID:29844446
The Role of Next-Generation Sequencing in Pharmacogenetics and Pharmacogenomics. PMID:29844222
Genetics in mainstream medicine: Finally within grasp to influence healthcare globally. PMID:29807392
Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS. PMID:29805045
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes. PMID:29805044
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. PMID:29805041
Genetic-Driven Druggable Target Identification and Validation. PMID:29803319
Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database. PMID:29802319
Mutations in BRCA1, BRCA2, and PALB2, and a panel of 50 cancer-associated genes in pancreatic ductal adenocarcinoma. PMID:29802286
Complex roads from genotype to phenotype in dilated cardiomyopathy: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology. PMID:29800419
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies. PMID:29796876
Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm. PMID:29796325
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PMID:29795570
Integrating rare genetic variants into pharmacogenetic drug response predictions. PMID:29793534
A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia. PMID:29791908
Tiled array-based sequencing identifies enrichment of loss-of-function variants in the highly homologous filaggrin gene in African-American children with severe atopic dermatitis. PMID:29791750
Targetable vulnerabilities in T- and NK-cell lymphomas identified through preclinical models. PMID:29789628
Measuring coverage and accuracy of whole-exome sequencing in clinical context. PMID:29789557
A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS. PMID:29789341
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study. PMID:29788237
Genetic identification of brain cell types underlying schizophrenia. PMID:29785013
Multiplex assessment of protein variant abundance by massively parallel sequencing. PMID:29785012
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability. PMID:29784605
Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity. PMID:29784039
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency. PMID:29783990
The developmental-genetics of canalization. PMID:29782925
Autoinflammatory mutation in NLRC4 reveals a leucine-rich repeat (LRR)-LRR oligomerization interface. PMID:29778503
The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family. PMID:29776397
A computational study of hedgehog signalling involved in basal cell carcinoma reveals the potential and limitation of combination therapy. PMID:29776351
Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype. PMID:29772310
GWAS4D: multidimensional analysis of context-specific regulatory variant for human complex diseases and traits. PMID:29771388
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3. PMID:29771303
Molecular testing in holoprosencephaly. PMID:29771000
Whole-exome sequencing for variant discovery in blepharospasm. PMID:29770609
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling. PMID:29769320
Double hits in schizophrenia. PMID:29767709
COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect? PMID:29764427
Towards pan-genome read alignment to improve variation calling. PMID:29764365
Analysis of the exome aggregation consortium (ExAC) database suggests that the BAP1-tumor predisposition syndrome is underreported in cancer patients. PMID:29761599
Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings. PMID:29760432
Clinical and genetic analysis of a rare syndrome associated with neoteny. PMID:29758565
The Ancestral Pace of Variant Reclassification. PMID:29757403
SNPnexus: assessing the functional relevance of genetic variation to facilitate the promise of precision medicine. PMID:29757393
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory. PMID:29754767
Whole-Exome Sequencing of an Exceptional Longevity Cohort. PMID:29750252
Functions of TGIF homeodomain proteins and their roles in normal brain development and holoprosencephaly. PMID:29749689
Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer. PMID:29749045
Genetic Variant in Human PAR (Protease-Activated Receptor) 4 Enhances Thrombus Formation Resulting in Resistance to Antiplatelet Therapeutics. PMID:29748334
The E3 ubiquitin ligase UBR5 regulates centriolar satellite stability and primary cilia. PMID:29742019
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. PMID:29740699
A genome-wide survey of mutations in the Jurkat cell line. PMID:29739316
Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism. PMID:29739035
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PMID:29738522
Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform. PMID:29737008
Generation of App knock-in mice reveals deletion mutations protective against Alzheimer's disease-like pathology. PMID:29728560
SCN5A (NaV1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance. PMID:29728395
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. PMID:29728376
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes. PMID:29727688
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. PMID:29727687
Genome sequencing in the clinic: the past, present, and future of genomic medicine. PMID:29727589
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. PMID:29726930
Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia. PMID:29725107
Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection. PMID:29725052
ENTPRISE-X: Predicting disease-associated frameshift and nonsense mutations. PMID:29723276
Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke. PMID:29722917
A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients. PMID:29721912
Discordant association of the CREBRF rs373863828 A allele with increased BMI and protection from type 2 diabetes in Māori and Pacific (Polynesian) people living in Aotearoa/New Zealand. PMID:29721634
A mutation-led search for novel functional domains in MeCP2. PMID:29718204
hts-nim: scripting high-performance genomic analyses. PMID:29718142
A systematic review on the genetics of male infertility in the era of next-generation sequencing. PMID:29713536
Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. PMID:29713087
Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC). PMID:29709087
Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools. PMID:29707261
Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population. PMID:29706639
Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study. PMID:29706558
Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana. PMID:29706352
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. PMID:29706351
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. PMID:29706350
Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland. PMID:29706349
Missense Variants in HIF1A and LACC1 Contribute to Leprosy Risk in Han Chinese. PMID:29706348
High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation. PMID:29705978
MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases. PMID:29704307
An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder. PMID:29703944
Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients. PMID:29703730
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. PMID:29700473
Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism. PMID:29700199
Opportunities and Challenges in Cardiovascular Pharmacogenomics: From Discovery to Implementation. PMID:29700066
Improved score statistics for meta-analysis in single-variant and gene-level association studies. PMID:29696691
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome. PMID:29695797
A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9. PMID:29695406
Evaluation of a bone morphogenetic protein 6 variant as a cause of iron loading. PMID:29695288
Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1. PMID:29693325
Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease. PMID:29692703
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease. PMID:29691411
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. PMID:29691392
Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese. PMID:29691385
Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms. PMID:29689197
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos. PMID:29688405
Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease. PMID:29688227
TAS2R38 Predisposition to Bitter Taste Associated with Differential Changes in Vegetable Intake in Response to a Community-Based Dietary Intervention. PMID:29686110
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease. PMID:29683450
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema. PMID:29682366
Surface Expression, Function, and Pharmacology of Disease-Associated Mutations in the Membrane Domain of the Human GluN2B Subunit. PMID:29681796
Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. PMID:29681510
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. PMID:29679388
Regulation of C-C chemokine receptor 5 (CCR5) stability by Lys197 and by transmembrane protein aptamers that target it for lysosomal degradation. PMID:29678881
What Does This Mutation Mean? The Tools and Pitfalls of Variant Interpretation in Lymphoid Malignancies. PMID:29677173
Targeted genomic landscape of metastases compared to primary tumours in clear cell metastatic renal cell carcinoma. PMID:29674707
Paternally inherited cis-regulatory structural variants are associated with autism. PMID:29674594
Thalamic Reticular Dysfunction as a Circuit Endophenotype in Neurodevelopmental Disorders. PMID:29673480
Human Genetic Susceptibility to Native Valve Staphylococcus aureus Endocarditis in Patients With S. aureus Bacteremia: Genome-Wide Association Study. PMID:29670602
Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease. PMID:29670507
No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY. PMID:29670293
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. PMID:29668857
Characteristics of genomic alterations of lung adenocarcinoma in young never-smokers. PMID:29667179
Identification of human glycosyltransferase genes expressed in erythroid cells predicts potential carbohydrate blood group loci. PMID:29662110
The genetic architecture of long QT syndrome: A critical reappraisal. PMID:29661707
A Nonsynonymous Variant in the GOLM1 Gene in Cutaneous Malignant Melanoma. PMID:29659923
Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65. PMID:29659842
Efficient population-scale variant analysis and prioritization with VAPr. PMID:29659724
Timing the Landmark Events in the Evolution of Clear Cell Renal Cell Cancer: TRACERx Renal. PMID:29656891
Structural Mechanism of Functional Modulation by Gene Splicing in NMDA Receptors. PMID:29656875
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. PMID:29656860
Combined Immunodeficiency with Ring Chromosome 21. PMID:29656336
New technologies to uncover the molecular basis of disorders of sex development. PMID:29655603
Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations. PMID:29654549
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation. PMID:29654543
Identification of somatic mutations in monozygotic twins discordant for psychiatric disorders. PMID:29654278
Association of the independent polymorphisms in CDKN2A with susceptibility of acute lymphoblastic leukemia. PMID:29654170
Expanding the clinical spectrum of biallelic ZNF335 variants. PMID:29652087
Systematic reanalysis of genomic data improves quality of variant interpretation. PMID:29652076
CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils. PMID:29651288
Chemical probes and drug leads from advances in synthetic planning and methodology. PMID:29651105
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. PMID:29650961
Global characterization of copy number variants in epilepsy patients from whole genome sequencing. PMID:29649218
Deep learning of genomic variation and regulatory network data. PMID:29648622
A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder. PMID:29644724
COQ2 variants in Parkinson's disease and multiple system atrophy. PMID:29644397
Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype. PMID:29644085
Genome evolution across 1,011 Saccharomyces cerevisiae isolates. PMID:29643504
Canine NAPEPLD-associated models of human myelin disorders. PMID:29643404
Somatic activating mutations in MAP2K1 cause melorheostosis. PMID:29643386
Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bpIntronic Deletion in South Asian Descendants. PMID:29641836
Discovery of genetic variants of the kinases that activate tenofovir among individuals in the United States, Thailand, and South Africa: HPTN067. PMID:29641561
Effects of genetic variants in the TSPO gene on protein structure and stability. PMID:29641545
MAP2 - A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34. PMID:29632546
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. PMID:29632382
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults. PMID:29631995
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases. PMID:29625556
Reciprocal Signaling between Glioblastoma Stem Cells and Differentiated Tumor Cells Promotes Malignant Progression. PMID:29625067
Comprehensive Characterization of Cancer Driver Genes and Mutations. PMID:29625053
Pathogenic Germline Variants in 10,389 Adult Cancers. PMID:29625052
Identification of Misclassified ClinVar Variants via Disease Population Prevalence. PMID:29625023
Pharmacogenetics of Opioid Use Disorder Treatment. PMID:29623639
iCopyDAV: Integrated platform for copy number variations-Detection, annotation and visualization. PMID:29621297
Xome-Blender: A novel cancer genome simulator. PMID:29621252
Coexistence of BRAF V600E and TERT Promoter Mutations in Low-grade Serous Carcinoma of Ovary Recurring as Carcinosarcoma in a Lymph Node: Report of a Case. PMID:29620581
Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort. PMID:29619236
The Clinical Significance of O6-Methylguanine-DNA Methyltransferase Promoter Methylation Status in Adult Patients With Glioblastoma: A Meta-analysis. PMID:29619003
KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses. PMID:29618732
Genetic analysis of Wnt/PCP genes in neural tube defects. PMID:29618362
Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry. PMID:29618041
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. PMID:29618029
Genetic Analysis of 779 Advanced Differentiated and Anaplastic Thyroid Cancers. PMID:29615459
The long tail of oncogenic drivers in prostate cancer. PMID:29610475
Exome chip analyses identify genes affecting mortality after HLA-matched unrelated-donor blood and marrow transplantation. PMID:29610366
Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability. PMID:29607243
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. PMID:29606302
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency. PMID:29604290
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. PMID:29603387
Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma. PMID:29602769
Human muscle-specific A-kinase anchoring protein polymorphisms modulate the susceptibility to cardiovascular diseases by altering cAMP/PKA signaling. PMID:29600899
WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype. PMID:29600274
Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features. PMID:29599744
Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines. PMID:29596782
Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease. PMID:29596577
Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex. PMID:29593499
Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling. PMID:29593473
Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort. PMID:29593342
p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer. PMID:29590403
A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta. PMID:29590334
Functional annotation of genomic variants in studies of late-onset Alzheimer's disease. PMID:29590295
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. PMID:29590070
Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori. PMID:29589180
Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy. PMID:29588962
Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results. PMID:29582136
ER+ Breast Cancers Resistant to Prolonged Neoadjuvant Letrozole Exhibit an E2F4 Transcriptional Program Sensitive to CDK4/6 Inhibitors. PMID:29581135
Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics. PMID:29580235
Rare ABCA7 variants in 2 German families with Alzheimer disease. PMID:29577078
Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection. PMID:29576450
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene. PMID:29573576
Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease. PMID:29573043
Concurrent action of purifying selection and gene conversion results in extreme conservation of the major stress-inducible Hsp70 genes in mammals. PMID:29572464
Systematic characterization of pan-cancer mutation clusters. PMID:29572294
Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. PMID:29572253
Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia. PMID:29570242
Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis. PMID:29567797
Genetic Factors Explain a Major Fraction of the 50% Lower Lipoprotein(a) Concentrations in Finns. PMID:29567679
Biomedical informatics and machine learning for clinical genomics. PMID:29566172
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. PMID:29566152
MKLN1 splicing defect in dogs with lethal acrodermatitis. PMID:29565995
Astrocytic water channel aquaporin-4 modulates brain plasticity in both mice and humans: a potential gliogenetic mechanism underlying language-associated learning. PMID:29565042
Weighted Burden Analysis of Exome-Sequenced Case-Control Sample Implicates Synaptic Genes in Schizophrenia Aetiology. PMID:29564678
Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia. PMID:29564582
Germline mutations in the alternative pathway of complement predispose to HELLP syndrome. PMID:29563339
A comprehensive catalog of predicted functional upstream open reading frames in humans. PMID:29562350
De novo mutations in regulatory elements in neurodevelopmental disorders. PMID:29562236
The protein histidine phosphatase LHPP is a tumour suppressor. PMID:29562234
Ligand Binding Site Structure Influences the Evolution of Protein Complex Function and Topology. PMID:29562182
Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples. PMID:29562078
Neuropsychiatric disease-associated genetic variants of the dopamine transporter display heterogeneous molecular phenotypes. PMID:29559554
Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar. PMID:29557500
Congenital glaucoma and CYP1B1: an old story revisited. PMID:29556725
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. PMID:29556724
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis. PMID:29554876
Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes Project. PMID:29551419
Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis. PMID:29551269
Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population. PMID:29547645
The molecular landscape of synchronous colorectal cancer reveals genetic heterogeneity. PMID:29546405
Maternal 5mCpG Imprints at the PARD6G-AS1 and GCSAML Differentially Methylated Regions Are Decoupled From Parent-of-Origin Expression Effects in Multiple Human Tissues. PMID:29545821
A primary breast cancer with distinct foci of estrogen receptor-alpha positive and negative cells derived from the same clonal origin as revealed by whole exome sequencing. PMID:29541976
Complex genetic architecture in severe hypobetalipoproteinemia. PMID:29540175
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion. PMID:29539190
Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy. PMID:29538625
IRF4 haploinsufficiency in a family with Whipple's disease. PMID:29537367
Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy. PMID:29535736
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. PMID:29534211
An examination of multiple classes of rare variants in extended families with bipolar disorder. PMID:29531218
Investigating the modulation of genetic effects on late AMD by age and sex: Lessons learned and two additional loci. PMID:29529059
Genome-wide analyses of self-reported empathy: correlations with autism, schizophrenia, and anorexia nervosa. PMID:29527006
Rare variant analysis in multiply affected families, association studies and functional analysis suggest a role for the ITGΒ4 gene in schizophrenia and bipolar disorder. PMID:29526452
A Commentary on Opportunities for the Genetic Counseling Profession through Genomic Variant Interpretation: Reflections from an Ex-Lab Rat. PMID:29525931
Gene Editing and Gene-Based Therapeutics for Cardiomyopathies. PMID:29525646
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers. PMID:29524275
Molecular Response to Neoadjuvant Chemotherapy in High-Grade Serous Ovarian Carcinoma. PMID:29523763
A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway. PMID:29522842
Exome-wide somatic mutation characterization of small bowel adenocarcinoma. PMID:29522538
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. PMID:29522266
Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing. PMID:29522175
A proteomic landscape of diffuse-type gastric cancer. PMID:29520031
Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy. PMID:29520015
Novel mutations associated with pyruvate kinase deficiency in Brazil. PMID:29519373
A screen for deeply conserved non-coding GWAS SNPs uncovers a MIR-9-2 functional mutation associated to retinal vasculature defects in human. PMID:29518216
Re: "Widespread prevalence of a CREBRF variant among Māori and Pacific children is associated with weight and height in early childhood". PMID:29511321
Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1. PMID:29511213
Analysis of a gene panel for targeted sequencing of colorectal cancer samples. PMID:29507673
A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report. PMID:29507583
Localization and functional consequences of a direct interaction between TRIOBP-1 and hERG proteins in the heart. PMID:29507111
Hereditary cancer genes are highly susceptible to splicing mutations. PMID:29505604
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. PMID:29500241
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. PMID:29499166
Single-Cell RNA-Seq of Mouse Dopaminergic Neurons Informs Candidate Gene Selection for Sporadic Parkinson Disease. PMID:29499164
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. PMID:29493581
Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations. PMID:29493090
A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features. PMID:29490693
Rebooting Human Immunology. PMID:29490162
How Surrogate and Chemical Genetics in Model Organisms Can Suggest Therapies for Human Genetic Diseases. PMID:29487144
Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project. PMID:29486463
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. PMID:29483670
Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance. PMID:29483668
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. PMID:29483656
The human noncoding genome defined by genetic diversity. PMID:29483654
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. PMID:29483653
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia. PMID:29481671
N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss-of-Function Mice. PMID:29479578
Integrative omics for health and disease. PMID:29479082
Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS. PMID:29478914
Inherited DNA-Repair Defects in Colorectal Cancer. PMID:29478780
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children. PMID:29478779
Characterization of Coding/Noncoding Variants for SHROOM3 in Patients with CKD. PMID:29476007
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. PMID:29474920
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. PMID:29474918
Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A. PMID:29473047
Duplications at 19q13.33 in patients with neurodevelopmental disorders. PMID:29473046
Whole genome diversity of inherited chromosomally integrated HHV-6 derived from healthy individuals of diverse geographic origin. PMID:29472617
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay. PMID:29472286
Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling. PMID:29467497
ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-update on methodological approaches and results interpretation. PMID:29467486
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. PMID:29464339
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. PMID:29463886
A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling. PMID:29463778
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. PMID:29460995
Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference. PMID:29459775
Identification of genetic variants for clinical management of familial colorectal tumors. PMID:29458332
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. PMID:29457785
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family. PMID:29456477
Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures. PMID:29455857
Genetic Variation of the Kinases That Phosphorylate Tenofovir and Emtricitabine in Peripheral Blood Mononuclear Cells. PMID:29455571
Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease. PMID:29454792
Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation. PMID:29453246
pBRIT: gene prioritization by correlating functional and phenotypic annotations through integrative data fusion. PMID:29452392
Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs Adolescent Puberty: Human Genetic Evidence. PMID:29452377
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features. PMID:29452367
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. PMID:29449551
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity. PMID:29449315
Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures. PMID:29444904
Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries. PMID:29444099
Familial aortic disease and a large duplication in chromosome 16p13.1. PMID:29441698
Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia. PMID:29441216
A homozygous NOP14 variant is likely to cause recurrent pregnancy loss. PMID:29440706
STAT3-enhancing germline mutations contribute to tumor-extrinsic immune evasion. PMID:29438108
A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance. PMID:29437797
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. PMID:29436111
Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature. PMID:29434700
Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome. PMID:29434620
Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders. PMID:29434582
Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma. PMID:29434027
Sorafenib promotes graft-versus-leukemia activity in mice and humans through IL-15 production in FLT3-ITD-mutant leukemia cells. PMID:29431743
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants. PMID:29431110
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. PMID:29429572
Uncommon Filaggrin Variants Are Associated with Persistent Atopic Dermatitis in African Americans. PMID:29428354
Whole Exome Sequencing: Applications in Prenatal Genetics. PMID:29428287
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome. PMID:29422660
Methylation profiling identifies two subclasses of squamous cell carcinoma related to distinct cells of origin. PMID:29422656
Csde1 binds transcripts involved in protein homeostasis and controls their expression in an erythroid cell line. PMID:29422612
Convergent pathways of the hyperferritinemic syndromes. PMID:29420734
Estimating the mutational load for cardiovascular diseases in Pakistani population. PMID:29420653
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. PMID:29419413
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders. PMID:29417091
The complex genetics of human insulin-like growth factor 2 are not reflected in public databases. PMID:29414792
Mutational Profiling of Malignant Mesothelioma Revealed Potential Therapeutic Targets in EGFR and NRAS. PMID:29413759
Geographic distribution of rare variants associated with age-related macular degeneration. PMID:29410599
Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale. PMID:29409527
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. PMID:29408807
CLCN2 chloride channel mutations in familial hyperaldosteronism type II. PMID:29403011
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies. PMID:29402968
Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells. PMID:29402915
CoVaCS: a consensus variant calling system. PMID:29402227
Paediatric genomics: diagnosing rare disease in children. PMID:29398702
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. PMID:29398121
Breaching Self-Tolerance to Alu Duplex RNA Underlies MDA5-Mediated Inflammation. PMID:29395326
The effect of rare variants in TREM2 and PLD3 on longitudinal cognitive function in the Wisconsin Registry for Alzheimer's Prevention. PMID:29395285
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome. PMID:29395074
The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome. PMID:29392648
Contraction of T cell richness in lung cancer brain metastases. PMID:29391594
Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder. PMID:29391400
Cross-linking BioThings APIs through JSON-LD to facilitate knowledge exploration. PMID:29390967
A high throughput screen for active human transposable elements. PMID:29390960
Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma risk. PMID:29389935
P450 Pharmacogenetics in Indigenous North American Populations. PMID:29389890
A literature review at genome scale: improving clinical variant assessment. PMID:29388949
Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty. PMID:29388946
Rare variants of the 3'-5' DNA exonuclease TREX1 in early onset small vessel stroke. PMID:29387804
Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease. PMID:29387438
Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling. PMID:29386531
De novo mutation in RING1 with epigenetic effects on neurodevelopment. PMID:29386386
Germline contamination and leakage in whole genome somatic single nucleotide variant detection. PMID:29385983
The Diverging Routes of BORIS and CTCF: An Interactomic and Phylogenomic Analysis. PMID:29385718
Disclosure of cardiac variants of uncertain significance results in an exome cohort. PMID:29383714
Probability of phenotypically detectable protein damage by ENU-induced mutations in the Mutagenetix database. PMID:29382827
Validation of liquid biopsy: plasma cell-free DNA testing in clinical management of advanced non-small cell lung cancer. PMID:29379323
PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum. PMID:29377098
Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency. PMID:29375865
Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia. PMID:29375828
An Activating Janus Kinase-3 Mutation Is Associated with Cytotoxic T Lymphocyte Antigen-4-Dependent Immune Dysregulation Syndrome. PMID:29375547
GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases. PMID:29374474
How Primary Care Providers Talk to Patients about Genome Sequencing Results: Risk, Rationale, and Recommendation. PMID:29374360
No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease. PMID:29373637
The Benefits of Tubular Proteinuria: An Evolutionary Perspective. PMID:29371418
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation. PMID:29369293
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. PMID:29368626
Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital. PMID:29368431
POLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women. PMID:29367954
Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy. PMID:29367541
BARD1 is necessary for ubiquitylation of nucleosomal histone H2A and for transcriptional regulation of estrogen metabolism genes. PMID:29367421
Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies. PMID:29365323
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. PMID:29365063
Rare and Common Variants Conferring Risk of Tooth Agenesis. PMID:29364747
Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency. PMID:29363275
Hypertrophic Cardiomyopathy Genotype Prediction Models in a Pediatric Population. PMID:29362845
Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population. PMID:29362361
Identification of a Rare Germline Heterozygous Deletion Involving the Polycistronic miR-17-92 Cluster in Two First-Degree Relatives from a BRCA 1/2 Negative Chilean Family with Familial Breast Cancer: Possible Functional Implications. PMID:29361751
Novel therapeutic strategy for cervical cancer harboring FGFR3-TACC3 fusions. PMID:29358619
Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome. PMID:29358616
Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings. PMID:29357359
Interactome INSIDER: a structural interactome browser for genomic studies. PMID:29355848
Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss. PMID:29355479
A robust targeted sequencing approach for low input and variable quality DNA from clinical samples. PMID:29354287
KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. PMID:29352316
Role of METTL20 in regulating β-oxidation and heat production in mice under fasting or ketogenic conditions. PMID:29352221
FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine. PMID:29351780
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. PMID:29348693
Biallelic variants in KIF14 cause intellectual disability with microcephaly. PMID:29343805
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency. PMID:29343804
Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias. PMID:29343803
Hot-spot KIF5A mutations cause familial ALS. PMID:29342275
Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data. PMID:29334895
Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains. PMID:29332010
A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network. PMID:29331327
The genotypic and phenotypic spectrum of MTO1 deficiency. PMID:29331171
Characteristics of MUTYH variants in Japanese colorectal polyposis patients. PMID:29330641
Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility. PMID:29330337
Effects of allelic variations in the human myxovirus resistance protein A on its antiviral activity. PMID:29330299
Exploiting ion channel structure to assess rare variant pathogenicity. PMID:29330128
A functional splice variant associated with decreased asthma risk abolishes the ability of gasdermin B to induce epithelial cell pyroptosis. PMID:29330013
Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling. PMID:29325022
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. PMID:29323667
De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism. PMID:29322246
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation. PMID:29321044
Germline and somatic variant identification using BGISEQ-500 and HiSeq X Ten whole genome sequencing. PMID:29320538
A genome-wide association study identifies only two ancestry specific variants associated with spontaneous preterm birth. PMID:29317701
Integrated case-control and somatic-germline interaction analyses of melanoma susceptibility genes. PMID:29317335
Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes. PMID:29311636
Putative functional genes in idiopathic dilated cardiomyopathy. PMID:29311597
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. PMID:29309402
Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease. PMID:29308445
Genomic medicine for kidney disease. PMID:29307893
Validation of Customized Cancer Panel for Detecting Somatic Mutations and Copy Number Alterations. PMID:29307139
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome. PMID:29305346
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm. PMID:29304371
Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia. PMID:29302076
Coordinated expression and genetic polymorphisms in Grainyhead-like genes in human non-melanoma skin cancers. PMID:29301499
TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children. PMID:29300620
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. PMID:29300372
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome. PMID:29300326
Mutations in EMT-Related Genes in ALK Positive Crizotinib Resistant Non-Small Cell Lung Cancers. PMID:29300322
Genetic contribution of retinoid-related genes to neural tube defects. PMID:29297599
Index case of acute myeloid leukemia in a family harboring a novel CEBPA germ line mutation. PMID:29296967
Erythrogene: a database for in-depth analysis of the extensive variation in 36 blood group systems in the 1000 Genomes Project. PMID:29296939
Impact of genomic alterations on outcomes in myelofibrosis patients undergoing JAK1/2 inhibitor therapy. PMID:29296819
Whole-exome sequencing in evaluation of patients with venous thromboembolism. PMID:29296762
XPAT: a toolkit to conduct cross-platform association studies with heterogeneous sequencing datasets. PMID:29294048
Genetic basis of human congenital anomalies of the kidney and urinary tract. PMID:29293093
Insights from human genetic studies of lung and organ fibrosis. PMID:29293091
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. PMID:29290337
Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation. PMID:29288294
Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients. PMID:29288229
Structural Activation of Pro-inflammatory Human Cytokine IL-23 by Cognate IL-23 Receptor Enables Recruitment of the Shared Receptor IL-12Rβ1. PMID:29287995
Pharmacogenomics of CYP2C9: Functional and Clinical Considerations. PMID:29283396
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. PMID:29276005
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. PMID:29276004
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. PMID:29273807
Genetic variation in human drug-related genes. PMID:29273096
Bioinformatics for precision oncology. PMID:29272324
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications. PMID:29271092
Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes. PMID:29270100
Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing. PMID:29269672
FoxP3 scanning mutagenesis reveals functional variegation and mild mutations with atypical autoimmune phenotypes. PMID:29269391
A framework for exhaustively mapping functional missense variants. PMID:29269382
Ethnicity of Patients With Germline GCM2-Activating Variants and Primary Hyperparathyroidism. PMID:29264504
Harvey Cushing Treated the First Known Patient With Carney Complex. PMID:29264456
Conformational Change in the Ligand-Binding Pocket via a KISS1R Mutation (P147L) Leads to Isolated Gonadotropin-Releasing Hormone Deficiency. PMID:29264451
CDKL5 variants: Improving our understanding of a rare neurologic disorder. PMID:29264392
Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy. PMID:29264390
The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration. PMID:29263818
Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients. PMID:29263414
Mutational profiles of breast cancer metastases from a rapid autopsy series reveal multiple evolutionary trajectories. PMID:29263308
Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies. PMID:29263209
Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. PMID:29263008
Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders. PMID:29262854
TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis. PMID:29261847
Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP. PMID:29261713
Novel copy-number variations in pharmacogenes contribute to interindividual differences in drug pharmacokinetics. PMID:29261188
High Conservation of Tetanus and Botulinum Neurotoxins Cleavage Sites on Human SNARE Proteins Suggests That These Pathogens Exerted Little or No Evolutionary Pressure on Humans. PMID:29257047
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data. PMID:29255295
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity. PMID:29255182
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy. PMID:29255176
Human genetics of infectious diseases: Unique insights into immunological redundancy. PMID:29254755
Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. PMID:29254502
Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework. PMID:29254494
Substitutions into amino acids that are pathogenic in human mitochondrial proteins are more frequent in lineages closely related to human than in distant lineages. PMID:29250469
Dual Targeting of Oncogenic Activation and Inflammatory Signaling Increases Therapeutic Efficacy in Myeloproliferative Neoplasms. PMID:29249691
Pharmacogenomics of GPCR Drug Targets. PMID:29249361
Alemtuzumab depletion failure can occur in multiple sclerosis. PMID:29247512
Accelerating Discovery of Functional Mutant Alleles in Cancer. PMID:29247016
Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome. PMID:29244787
Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity. PMID:29244146
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. PMID:29243290
The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion. PMID:29242557
A Schizophrenia-Linked KALRN Coding Variant Alters Neuron Morphology, Protein Function, and Transcript Stability. PMID:29241584
Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation. PMID:29240891
CELSR2 is a candidate susceptibility gene in idiopathic scoliosis. PMID:29240829
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains. PMID:29240685
Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience. PMID:29240077
Genome-Wide Association Study Implicates Atrial Natriuretic Peptide Rather Than B-Type Natriuretic Peptide in the Regulation of Blood Pressure in the General Population. PMID:29237677
ZBP1: Innate Sensor Regulating Cell Death and Inflammation. PMID:29236673
Identification of MYLK3 mutations in familial dilated cardiomyopathy. PMID:29235529
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. PMID:29235198
Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification. PMID:29234989
Natural Knockouts: Natural Selection Knocked Out. PMID:29231847
Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome. PMID:29229899
Cytoplasmic Cl- couples membrane remodeling to epithelial morphogenesis. PMID:29229864
Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci. PMID:29229813
The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability. PMID:29228394
A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure. PMID:29228025
Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives. PMID:29225788
Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration. PMID:29224928
Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse. PMID:29224215
Exploring digenic inheritance in arrhythmogenic cardiomyopathy. PMID:29221435
Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples. PMID:29221171
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations. PMID:29221145
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder. PMID:29220674
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. PMID:29220673
Benchmarking distributed data warehouse solutions for storing genomic variant information. PMID:29220442
Panomics for Precision Medicine. PMID:29217119
Human perforin gene variation is geographically distributed. PMID:29216683
SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities. PMID:29214085
Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS). PMID:29213343
Genetic Testing in Pediatric Left Ventricular Noncompaction. PMID:29212898
Genomic analysis of a case of agminated Spitz nevi and congenital-pattern nevi arising in extensive nevus spilus. PMID:29210482
Whole-exome sequencing of sickle cell disease patients with hyperhemolysis syndrome suggests a role for rare variation in disease predisposition. PMID:29210071
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. PMID:29209020
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals. PMID:29207974
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. PMID:29205472
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly. PMID:29205322
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study. PMID:29204651
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. PMID:29198722
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation. PMID:29198536
Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign. PMID:29197658
Properties of human genes guided by their enrichment in rare and common variants. PMID:29197136
Power Analysis for Genetic Association Test (PAGEANT) provides insights to challenges for rare variant association studies. PMID:29194474
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals. PMID:29192238
Weighted likelihood inference of genomic autozygosity patterns in dense genotype data. PMID:29191164
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. PMID:29186148
Whole genome sequencing in psychiatric disorders: the WGSPD consortium. PMID:29184211
Functional mapping and annotation of genetic associations with FUMA. PMID:29184056
GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency. PMID:29182666
Pharmacogenomic Biomarkers for Improved Drug Therapy-Recent Progress and Future Developments. PMID:29181807
Rare non-coding variants are associated with plasma lipid traits in a founder population. PMID:29180722
Screening drug effects in patient-derived cancer cells links organoid responses to genome alterations. PMID:29180611
Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. PMID:29179779
Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications. PMID:29179772
Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF. PMID:29178647
Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita. PMID:29178645
The genetic profile of Leber congenital amaurosis in an Australian cohort. PMID:29178642
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria. PMID:29178637
De novo mutations implicate novel genes in systemic lupus erythematosus. PMID:29177435
NSD1- and NSD2-damaging mutations define a subset of laryngeal tumors with favorable prognosis. PMID:29176703
Ajmaline blocks INa and IKr without eliciting differences between Brugada syndrome patient and control human pluripotent stem cell-derived cardiac clusters. PMID:29172153
Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype. PMID:29170628
Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. PMID:29168297
Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy. PMID:29167554
Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome. PMID:29167417
ClinVar: improving access to variant interpretations and supporting evidence. PMID:29165669
Departure from Hardy Weinberg Equilibrium and Genotyping Error. PMID:29163635
Detection of Somatic Mutations in Exome Sequencing of Tumor-only Samples. PMID:29162841
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease. PMID:29162642
Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency. PMID:29161432
BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population? PMID:29161300
Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes. PMID:29159471
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair. PMID:29159460
The BRCA2 variant c.68-7 T>A is associated with breast cancer. PMID:29158857
Exome Pool-Seq in neurodevelopmental disorders. PMID:29158550
Association study of schizophrenia with variants in miR-137 binding sites. PMID:29158013
Ensembl 2018. PMID:29155950
Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa. PMID:29155802
Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling. PMID:29155419
Late-onset hemophagocytic lymphohistiocytosis with neurological presentation. PMID:29152263
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly. PMID:29152164
Prioritizing diversity in human genomics research. PMID:29151588
Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families. PMID:29150909
Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese. PMID:29149916
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. PMID:29149851
A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study. PMID:29149770
Exome sequence analysis and follow up genotyping implicates rare ULK1 variants to be involved in susceptibility to schizophrenia. PMID:29148569
Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans. PMID:29145497
Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort. PMID:29142202
Genetic and Genomic Characterization of 462 Melanoma Patient-Derived Xenografts, Tumor Biopsies, and Cell Lines. PMID:29141224
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA. PMID:29137621
Germline variant in MSX1 identified in a Dutch family with clustering of Barrett's esophagus and esophageal adenocarcinoma. PMID:29134539
Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease. PMID:29133643
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening. PMID:29131160
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness. PMID:29130579
Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE). PMID:29129473
A Map of Human Mitochondrial Protein Interactions Linked to Neurodegeneration Reveals New Mechanisms of Redox Homeostasis and NF-κB Signaling. PMID:29128334
Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy. PMID:29127354
New insights into the phenotype of FARS2 deficiency. PMID:29126765
DBTSS/DBKERO for integrated analysis of transcriptional regulation. PMID:29126224
ActiveDriverDB: human disease mutations and genome variation in post-translational modification sites of proteins. PMID:29126202
Prevalence and detection of low-allele-fraction variants in clinical cancer samples. PMID:29123093
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. PMID:29122469
Better beings? PMID:29121031
De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy. PMID:29121005
Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1. PMID:29120461
Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus. PMID:29114388
The genetics of obstructive sleep apnoea. PMID:29113020
VarCards: an integrated genetic and clinical database for coding variants in the human genome. PMID:29112736
Juvenile-Onset Diabetes and Congenital Cataract: "Double-Gene" Mutations Mimicking a Syndromic Diabetes Presentation. PMID:29112131
Targeted Gene Sequencing of Gallbladder Carcinoma Identifies High-impact Somatic and Rare Germline Mutations. PMID:29109099
Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1. PMID:29108000
Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety. PMID:29107289
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. PMID:29106825
Factor VII deficiency: a novel missense variant and genotype-phenotype correlation in patients from Southern Italy. PMID:29104756
Pharmacogenomics: Precision Medicine and Drug Response. PMID:29101939
Estimated prevalence of potentially damaging variants in the leptin gene. PMID:29101506
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant. PMID:29100554
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. PMID:29100093
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. PMID:29100090
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. PMID:29100085
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. PMID:29100083
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. PMID:29097605
Gut microbiome modulates response to anti-PD-1 immunotherapy in melanoma patients. PMID:29097493
Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome. PMID:29095867
Factor H-Related (FHR)-1 and FHR-2 Form Homo- and Heterodimers, while FHR-5 Circulates Only As Homodimer in Human Plasma. PMID:29093712
CRAVAT 4: Cancer-Related Analysis of Variants Toolkit. PMID:29092935
Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease. PMID:29091718
NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease. PMID:29091079
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. PMID:29089047
TMEM132: an ancient architecture of cohesin and immunoglobulin domains define a new family of neural adhesion molecules. PMID:29088312
Somatic mutation driven codon transition bias in human cancer. PMID:29079855
A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR. PMID:29079751
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. PMID:29078390
TITINdb-a computational tool to assess titin's role as a disease gene. PMID:29077808
Exome-Wide Association Study of Pancreatic Cancer Risk. PMID:29074453
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. PMID:29068549
A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure. PMID:29067606
Novel Tetra-Primer ARMS-PCR Assays for Thiopurine Intolerance Susceptibility Mutations NUDT15 c.415C>T and TPMT c.719A>G (TPMT*3C) in East Asians. PMID:29065511
Identification and characterization of a novel chemically induced allele at the planar cell polarity gene Vangl2. PMID:29063958
Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome. PMID:29058154
Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias. PMID:29057844
Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy. PMID:29057815
Systems biology in the central nervous system: a brief perspective on essential recent advancements. PMID:29057378
Universal Patterns of Selection in Cancer and Somatic Tissues. PMID:29056346
Comprehensive Analysis of Hypermutation in Human Cancer. PMID:29056344
The Human Knockout Gene CLYBL Connects Itaconate to Vitamin B12. PMID:29056341
National human genome projects: an update and an agenda. PMID:29056031
Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine. PMID:29052111
CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature. PMID:29051910
Analysis of ITGB2 rare germ line variants in chronic lymphocytic leukemia. PMID:29051179
A Missense Variant in PLEC Increases Risk of Atrial Fibrillation. PMID:29050564
A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia. PMID:29046692
Towards precision nephrology: the opportunities and challenges of genomic medicine. PMID:29043570
Integrating evolutionary and regulatory information with a multispecies approach implicates genes and pathways in obsessive-compulsive disorder. PMID:29042551
The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy. PMID:29042326
The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation. PMID:29040465
Translational medicine in the Age of Big Data. PMID:29040418
Human Genome Sequencing at the Population Scale: A Primer on High-Throughput DNA Sequencing and Analysis. PMID:29040395
Closing the Genotype-Phenotype Loop for Precision Medicine. PMID:29038206
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects. PMID:29036646
Rare germline variants in known melanoma susceptibility genes in familial melanoma. PMID:29036293
Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy. PMID:29034082
Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland. PMID:29033928
Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency. PMID:29032433
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients. PMID:29030401
Novel mutations in Darier disease and association to self-reported disease severity. PMID:29028823
Recent advances in understanding and prevention of sudden cardiac death. PMID:29026525
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. PMID:29026101
Disease-specific biases in alternative splicing and tissue-specific dysregulation revealed by multitissue profiling of lymphocyte gene expression in type 1 diabetes. PMID:29025893
Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network. PMID:29025585
Genetic effects on gene expression across human tissues. PMID:29022597
The impact of rare variation on gene expression across tissues. PMID:29022581
Deriving and understanding the risk of post-transplant recurrence of nephrotic syndrome in the light of current molecular and genetic advances. PMID:29022104
Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes. PMID:29021619
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. PMID:29021403
Heterozygous Null LDLR Mutation in a Familial Hypercholesterolemia Patient With an Atypical Presentation Because of Alcohol Abuse. PMID:28993407
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. PMID:28991257
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. PMID:28990276
Re-evaluating pathogenicity of variants associated with the long QT syndrome. PMID:28988457
Analysis of NOD-like receptor NLRP1 in multiple sclerosis families. PMID:28988323
Genetic variants affecting equivalent protein family positions reflect human diversity. PMID:28986545
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders. PMID:28985496
Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort. PMID:28983403
Genomic alterations in mucins across cancers. PMID:28978023
MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants. PMID:28977528
Genome-scale detection of positive selection in nine primates predicts human-virus evolutionary conflicts. PMID:28977405
Resources for Interpreting Variants in Precision Genomic Oncology Applications. PMID:28975082
Fine population structure analysis method for genomes of many. PMID:28974706
A mutation in IFT43 causes non-syndromic recessive retinal degeneration. PMID:28973684
Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity. PMID:28973398
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling. PMID:28973304
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy. PMID:28973161
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. PMID:28972005
Psychiatric Genomics: An Update and an Agenda. PMID:28969442
tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine. PMID:28968638
VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions. PMID:28967166
A CRISPR view of gene regulation. PMID:28966990
Frequency of GBA variants in autopsy-proven multiple system atrophy. PMID:28966932
TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia. PMID:28966590
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. PMID:28965847
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters. PMID:28965491
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. PMID:28963451
Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. PMID:28963436
Reference genome assessment from a population scale perspective: an accurate profile of variability and noise. PMID:28961772
Estimation of kinship coefficient in structured and admixed populations using sparse sequencing data. PMID:28961250
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. PMID:28960836
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. PMID:28960434
Shared genetic regulatory networks for cardiovascular disease and type 2 diabetes in multiple populations of diverse ethnicities in the United States. PMID:28957322
The population genetics of human disease: The case of recessive, lethal mutations. PMID:28957316
Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples. PMID:28956228
Discrimination of Germline EGFR T790M Mutations in Plasma Cell-Free DNA Allows Study of Prevalence Across 31,414 Cancer Patients. PMID:28947568
E-Learning for Rare Diseases: An Example Using Fabry Disease. PMID:28946642
Formation of a TBX20-CASZ1 protein complex is protective against dilated cardiomyopathy and critical for cardiac homeostasis. PMID:28945738
Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model. PMID:28945736
Spatial distribution of disease-associated variants in three-dimensional structures of protein complexes. PMID:28945216
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. PMID:28944238
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1. PMID:28944233
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. PMID:28942967
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. PMID:28942966
Prospects of Fine-Mapping Trait-Associated Genomic Regions by Using Summary Statistics from Genome-wide Association Studies. PMID:28942963
MYO18A: An unusual myosin. PMID:28942352
Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations. PMID:28939980
Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration. PMID:28939808
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA. PMID:28938416
Emerging Opportunities for Target Discovery in Rare Cancers. PMID:28938087
Integrated molecular analysis of Tamoxifen-resistant invasive lobular breast cancer cells identifies MAPK and GRM/mGluR signaling as therapeutic vulnerabilities. PMID:28935545
Identification of novel candidate disease genes from de novo exonic copy number variants. PMID:28934986
Variation in Akt protein kinases in human populations. PMID:28931550
An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio. PMID:28928363
A SNP panel and online tool for checking genotype concordance through comparing QR codes. PMID:28926565
Retinoid X receptor suppresses a metastasis-promoting transcriptional program in myeloid cells via a ligand-insensitive mechanism. PMID:28923935
Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center. PMID:28921387
Editorial: Current Challenges in Cardiovascular Molecular Diagnostics. PMID:28920058
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand. PMID:28915855
Clinical genetics of craniosynostosis. PMID:28914635
Genome build information is an essential part of genomic track files. PMID:28911336
Genomic medicine and data sharing. PMID:28910995
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. PMID:28905882
Population-specific genetic variation in large sequencing data sets: why more data is still better. PMID:28905877
Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system. PMID:28895531
The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family. PMID:28894297
Disassembly of the Staphylococcus aureus hibernating 100S ribosome by an evolutionarily conserved GTPase. PMID:28894000
Interpreting short tandem repeat variations in humans using mutational constraint. PMID:28892063
Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. PMID:28892062
Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls. PMID:28888541
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. PMID:28886345
Variant Interpretation: Functional Assays to the Rescue. PMID:28886340
Pitfalls of exome sequencing: a case study of the attribution of HABP2 rs7080536 in familial non-medullary thyroid cancer. PMID:28884020
When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants. PMID:28882004
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma. PMID:28881068
Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report. PMID:28878612
FUT2 non-secretor status is associated with altered susceptibility to symptomatic enterotoxigenic Escherichia coli infection in Bangladeshis. PMID:28878367
Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies. PMID:28877560
Penetrance and the Healthy Elderly. PMID:28876137
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. PMID:28875981
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. PMID:28874452
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. PMID:28873162
Polygenic determinants in extremes of high-density lipoprotein cholesterol. PMID:28870971
Evaluating somatic tumor mutation detection without matched normal samples. PMID:28870239
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder. PMID:28867142
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. PMID:28867141
Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC. PMID:28866788
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. PMID:28866611
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation. PMID:28864458
Dosage-sensitive genes in evolution and disease. PMID:28863777
Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history. PMID:28861920
Identification and functional analysis of CORIN variants in hypertensive patients. PMID:28861913
Improving power of association tests using multiple sets of imputed genotypes from distributed reference panels. PMID:28861891
Genetic association study of common variants in TGFB1 and IL-6 with developmental dysplasia of the hip in Han Chinese population. PMID:28860542
Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function. PMID:28859974
Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene. PMID:28859202
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. PMID:28859103
PharmGKB summary: very important pharmacogene information for ABCG2. PMID:28858993
Fate mapping of human glioblastoma reveals an invariant stem cell hierarchy. PMID:28854171
Propionic acidemia as a cause of adult-onset dilated cardiomyopathy. PMID:28853722
Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease. PMID:28852706
Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation. PMID:28851938
Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes. PMID:28851873
Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing. PMID:28851476
Functional significance of rare neuroligin 1 variants found in autism. PMID:28841651
Functional and molecular studies in primary carnitine deficiency. PMID:28841266
Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy. PMID:28840994
A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes. PMID:28838971
Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. PMID:28837078
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population. PMID:28832569
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data. PMID:28832562
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. PMID:28831199
Extracellular redox sensitivity of Kv1.2 potassium channels. PMID:28831076
Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes. PMID:28827725
Sensitized mutagenesis screen in Factor V Leiden mice identifies thrombosis suppressor loci. PMID:28827327
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1. PMID:28825856
A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer. PMID:28825726
Comprehensive Analysis of Tissue-wide Gene Expression and Phenotype Data Reveals Tissues Affected in Rare Genetic Disorders. PMID:28822752
Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation. PMID:28821934
Transcriptomic Analysis of Ribosome-Bound mRNA in Cortical Neurites In Vivo. PMID:28821669
Whole Exome Sequencing of Lacrimal Gland Adenoid Cystic Carcinoma. PMID:28820917
Ribosomopathy-like properties of murine and human cancers. PMID:28820908
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. PMID:28819299
Decoding disease-causing mechanisms of missense mutations from supramolecular structures. PMID:28819267
Distribution bias and biochemical characterization of TOP1MT single nucleotide variants. PMID:28819183
Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2. PMID:28818065
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. PMID:28815944
Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics. PMID:28815929
Biological function in the twilight zone of sequence conservation. PMID:28814299
Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. PMID:28813618
Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases. PMID:28812537
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine. PMID:28812535
Genetic Testing in Inherited Heart Diseases: Practical Considerations for Clinicians. PMID:28812208
Syntool: A Novel Region-Based Intolerance Score to Single Nucleotide Substitution for Synonymous Mutations Predictions Based on 123,136 Individuals. PMID:28812016
Discovery of Variants Underlying Host Susceptibility to Virus Infection Using Whole-Exome Sequencing. PMID:28808973
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. PMID:28806457
Brain calcifications and PCDH12 variants. PMID:28804758
Settling the score: variant prioritization and Mendelian disease. PMID:28804138
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure. PMID:28802248
New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders. PMID:28801591
Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy. PMID:28797094
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia. PMID:28796785
Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation. PMID:28794915
Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature. PMID:28793149
Transcriptome profiling of mouse brains with qkI-deficient oligodendrocytes reveals major alternative splicing defects including self-splicing. PMID:28790308
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. PMID:28790179
Early Onset Parkinson's Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report. PMID:28789629
Frequency of mononuclear diploid cardiomyocytes underlies natural variation in heart regeneration. PMID:28783163
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy. PMID:28782931
Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories. PMID:28782058
Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas. PMID:28780672
Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. PMID:28779002
Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy. PMID:28778945
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. PMID:28777931
Asparagine Synthetase deficiency-report of a novel mutation and review of literature. PMID:28776279
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. PMID:28771489
Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity. PMID:28771248
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy. PMID:28771244
High-Coverage Whole-Exome Sequencing Identifies Candidate Genes for Suicide in Victims with Major Depressive Disorder. PMID:28769055
Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease. PMID:28765789
NOD2 gene variants confer risk for secondary sclerosing cholangitis in critically ill patients. PMID:28765628
The phenotypic variability of HK1-associated retinal dystrophy. PMID:28765615
Implications of human genetic variation in CRISPR-based therapeutic genome editing. PMID:28759051
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies. PMID:28756411
A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation. PMID:28754144
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. PMID:28753627
Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies. PMID:28752844
Application of next-generation sequencing technology to diagnosis and treatment of focal segmental glomerulosclerosis. PMID:28752288
Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk. PMID:28749474
Allelic Complexity in Long QT Syndrome: A Family-Case Study. PMID:28749435
The prevalence of DICER1 pathogenic variation in population databases. PMID:28748527
PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants. PMID:28748388
Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo. PMID:28748214
Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia. PMID:28748147
Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency. PMID:28747913
Mutations targeting the coagulation pathway are enriched in brain metastases. PMID:28747664
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis. PMID:28747427
ABCG2 c.421C>A Is Associated with Outcomes after Severe Traumatic Brain Injury. PMID:28747144
Sequencing and de novo assembly of 150 genomes from Denmark as a population reference. PMID:28746312
DYRK1B mutations associated with metabolic syndrome impair the chaperone-dependent maturation of the kinase domain. PMID:28743892
R-spondin2, a novel target of NOBOX: identification of variants in a cohort of women with primary ovarian insufficiency. PMID:28743298
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. PMID:28742282
DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease. PMID:28742119
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PMID:28742085
The Democratization of Genomic Inquiry Empowers Our Understanding of Nephrotic Syndrome. PMID:28737604
Evaluation of Quality Assessment Protocols for High Throughput Genome Resequencing Data. PMID:28736571
Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss. PMID:28733840
A population-specific reference panel empowers genetic studies of Anabaptist populations. PMID:28729679
Tumor-Associated Mutations in Caspase-6 Negatively Impact Catalytic Efficiency. PMID:28726391
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). PMID:28726266
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. PMID:28726122
Biochemical, Molecular, and Clinical Characterization of Succinate Dehydrogenase Subunit A Variants of Unknown Significance. PMID:28724664
Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia. PMID:28719003
Dynamics and energetics of the mammalian phosphatidylinositol transfer protein phospholipid exchange cycle. PMID:28718450
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies. PMID:28717674
Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort. PMID:28717666
Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts. PMID:28717663
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants. PMID:28717662
Severe viral respiratory infections in children with IFIH1 loss-of-function mutations. PMID:28716935
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. PMID:28714225
Genomic landscape of high-grade meningiomas. PMID:28713588
Findings of a 1303 Korean whole-exome sequencing study. PMID:28706299
Unmasking the molecular link between arrhythmogenic cardiomyopathy and Brugada syndrome. PMID:28703223
FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population. PMID:28702895
Loss-of-function variants of SCN8A in intellectual disability without seizures. PMID:28702509
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy. PMID:28701297
Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report. PMID:28701203
Natural variation in a single amino acid substitution underlies physiological responses to topoisomerase II poisons. PMID:28700616
Genetics of paediatric cardiomyopathies. PMID:28700417
Loss-of-function mutation in Mirta22/Emc10 rescues specific schizophrenia-related phenotypes in a mouse model of the 22q11.2 deletion. PMID:28696314
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. PMID:28696212
Unperturbed Cytotoxic Lymphocyte Phenotype and Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients. PMID:28694809
The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes. PMID:28687971
Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1. PMID:28687807
Strength of functional signature correlates with effect size in autism. PMID:28687074
Integrative Genetic and Epigenetic Analysis Uncovers Regulatory Mechanisms of Autoimmune Disease. PMID:28686857
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. PMID:28686854
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. PMID:28686853
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. PMID:28686597
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. PMID:28681861
Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia. PMID:28681398
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling. PMID:28679693
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. PMID:28679688
Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease. PMID:28677271
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation. PMID:28675565
Histone H2A Monoubiquitination in Neurodevelopmental Disorders. PMID:28669576
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. PMID:28669405
SEQSpark: A Complete Analysis Tool for Large-Scale Rare Variant Association Studies Using Whole-Genome and Exome Sequence Data. PMID:28669402
A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases. PMID:28669401
DNM1 encephalopathy: A new disease of vesicle fission. PMID:28667181
Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia. PMID:28667000
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. PMID:28663785
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes. PMID:28663758
Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology. PMID:28660367
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor. PMID:28659821
CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis. PMID:28657829
Improving power for rare-variant tests by integrating external controls. PMID:28657150
Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population. PMID:28655895
A Massively Parallel Fluorescence Assay to Characterize the Effects of Synonymous Mutations on TP53 Expression. PMID:28652265
The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability. PMID:28650482
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. PMID:28649782
The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk. PMID:28649662
Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes. PMID:28649445
NOTCH 1 Mutation in a Patient with Spontaneous and Recurrent Dissections of Extracranial Arteries. PMID:28649221
Podocytes and the quest for precision medicines for kidney diseases. PMID:28646406
The evolving genetic risk for sporadic ALS. PMID:28642336
Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup. PMID:28640247
Systematic design and comparison of expanded carrier screening panels. PMID:28640244
Same-day genomic and epigenomic diagnosis of brain tumors using real-time nanopore sequencing. PMID:28638988
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding. PMID:28637664
A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors. PMID:28634180
Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease. PMID:28633377
ClinVar data parsing. PMID:28630944
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features. PMID:28630369
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. PMID:28630177
Truncating mutations in RBM12 are associated with psychosis. PMID:28628109
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. PMID:28628100
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. PMID:28625504
MyGeneFriends: A Social Network Linking Genes, Genetic Diseases, and Researchers. PMID:28623182
Conservation of alternative splicing in sodium channels reveals evolutionary focus on release from inactivation and structural insights into gating. PMID:28621020
Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma. PMID:28620713
Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn. PMID:28617419
Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. PMID:28612833
Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family. PMID:28611549
The Missing LINC for Genetic Cardiovascular Disease? PMID:28611034
Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease. PMID:28611029
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families. PMID:28608266
Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes. PMID:28606303
Pan-cancer analysis reveals technical artifacts in TCGA germline variant calls. PMID:28606096
Genetic diagnosis of Mendelian disorders via RNA sequencing. PMID:28604674
Mining the Genome for Therapeutic Targets. PMID:28603140
Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration. PMID:28600438
Molecular profiling of signet ring cell colorectal cancer provides a strong rationale for genomic targeted and immune checkpoint inhibitor therapies. PMID:28595259
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase. PMID:28593992
The Mouse Lemur, a Genetic Model Organism for Primate Biology, Behavior, and Health. PMID:28592502
Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability. PMID:28584052
Mechanisms of suppression: The wiring of genetic resilience. PMID:28582599
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. PMID:28575651
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. PMID:28575648
The rs16906252:C>T SNP is not associated with increased overall survival or temozolomide response in a Han-Chinese glioma cohort. PMID:28575062
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1. PMID:28572511
Sources of discordance among germ-line variant classifications in ClinVar. PMID:28569743
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data. PMID:28569218
Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen. PMID:28566687
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. PMID:28566479
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. PMID:28559085
Genome annotation for clinical genomic diagnostics: strengths and weaknesses. PMID:28558813
Genomic diagnosis for children with intellectual disability and/or developmental delay. PMID:28554332
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. PMID:28553959
The A946T variant of the RNA sensor IFIH1 mediates an interferon program that limits viral infection but increases the risk for autoimmunity. PMID:28553952
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. PMID:28552198
Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. PMID:28552195
Myeloid neoplasms with germline DDX41 mutation. PMID:28547672
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1. PMID:28547000
Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias. PMID:28546998
Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients. PMID:28546997
A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia. PMID:28546996
Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges. PMID:28544272
Objective assessment of the evolutionary action equation for the fitness effect of missense mutations across CAGI-blinded contests. PMID:28544059
Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve. PMID:28541271
Copy-number variants and candidate gene mutations in isolated split hand/foot malformation. PMID:28539665
Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy. PMID:28537274
HGVA: the Human Genome Variation Archive. PMID:28535294
Power of pedigree likelihood analysis in extended pedigrees to classify rare variants of uncertain significance in cancer risk genes. PMID:28534081
Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease. PMID:28533356
A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets. PMID:28532469
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency. PMID:28530713
Recent advances in predicting gene-disease associations. PMID:28529714
Targeted sequencing of tonsillar and base of tongue cancer and human papillomavirus positive unknown primary of the head and neck reveals prognostic effects of mutated FGFR3. PMID:28525363
Resistance to malaria through structural variation of red blood cell invasion receptors. PMID:28522690
GeMSTONE: orchestrated prioritization of human germline mutations in the cloud. PMID:28521008
VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data. PMID:28520890
Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy. PMID:28518218
Using high-resolution variant frequencies to empower clinical genome interpretation. PMID:28518168
Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma. PMID:28514723
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. PMID:28513610
CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease. PMID:28512778
CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants. PMID:28512736
Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics. PMID:28511696
Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges. PMID:28508593
Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. PMID:28508493
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease. PMID:28508084
Clinical and Molecular Heterogeneity of RTEL1 Deficiency. PMID:28507545
Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients. PMID:28505210
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. PMID:28504703
Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations. PMID:28503910
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. PMID:28502612
A rare coding allele in IFIH1 is protective for psoriatic arthritis. PMID:28501801
The New Genomics: What Molecular Databases Can Tell Us About Human Population Variation and Endocrine Disease. PMID:28498917
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge. PMID:28497567
A mutation in the CACNA1C gene leads to early repolarization syndrome with incomplete penetrance: A Chinese family study. PMID:28493952
De novo REEP2 missense mutation in pure hereditary spastic paraplegia. PMID:28491902
Evaluating a CLL susceptibility variant in ITGB2 in families with multiple subtypes of hematological malignancies. PMID:28490571
A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. PMID:28488678
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases. PMID:28487885
Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma. PMID:28487882
When "N of 2" is not enough: integrating statistical and functional data in gene discovery. PMID:28487880
Common sequence variants affect molecular function more than rare variants? PMID:28487536
mTCTScan: a comprehensive platform for annotation and prioritization of mutations affecting drug sensitivity in cancers. PMID:28482068
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. PMID:28475857
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. PMID:28473463
Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy. PMID:28472305
New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy. PMID:28472301
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. PMID:28471437
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders. PMID:28471432
Sequencing the CYP2D6 gene: from variant allele discovery to clinical pharmacogenetic testing. PMID:28470112
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. PMID:28469144
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. PMID:28469040
Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments. PMID:28466453
Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly. PMID:28465847
Severe congenital microcephaly with AP4M1 mutation, a case report. PMID:28464862
A novel ALS-associated variant in UBQLN4 regulates motor axon morphogenesis. PMID:28463112
Suppressors and activators of JAK-STAT signaling at diagnosis and relapse of acute lymphoblastic leukemia in Down syndrome. PMID:28461505
Pathophysiology of TFII-I: Old Guard Wearing New Hats. PMID:28461154
IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration. PMID:28460050
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. PMID:28459839
Functional assessment of the NMDA receptor variant GluN2A R586K. PMID:28459106
TMEM230 in Parkinson's disease. PMID:28457580
Novel oxytocin receptor variants in laboring women requiring high doses of oxytocin. PMID:28456503
Lost in translation: returning germline genetic results in genome-scale cancer research. PMID:28454591
Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression. PMID:28450854
The impact of rare and low-frequency genetic variants in common disease. PMID:28449691
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration. PMID:28446513
Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations. PMID:28445466
Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype. PMID:28443623
Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients. PMID:28442722
Rapid evolution of the human mutation spectrum. PMID:28440220
Emerging Affinity-Based Proteomic Technologies for Large-Scale Plasma Profiling in Cardiovascular Disease. PMID:28438806
Whole genome sequencing predicts novel human disease models in rhesus macaques. PMID:28438488
Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease. PMID:28430790
Functional Analysis of the rs774872314, rs116171003, rs200231898 and rs201107751 Polymorphisms in the Human RORγT Gene Promoter Region. PMID:28430123
Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera. PMID:28427458
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. PMID:28424332
Whole-Exome Sequencing of Metaplastic Breast Carcinoma Indicates Monoclonality with Associated Ductal Carcinoma Component. PMID:28424200
Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations. PMID:28422960
MPEG1/perforin-2 mutations in human pulmonary nontuberculous mycobacterial infections. PMID:28422754
Leukocidins: staphylococcal bi-component pore-forming toxins find their receptors. PMID:28420883
Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden. PMID:28420421
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye. PMID:28419360
Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. PMID:28418444
Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA. PMID:28417298
Pathogenic variants that alter protein code often disrupt splicing. PMID:28416821
Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. PMID:28414775
Absence of the dermatan sulfate chain of decorin does not affect mouse development. PMID:28412940
Lipin proteins and glycerolipid metabolism: Roles at the ER membrane and beyond. PMID:28411173
SNCA 3'UTR genetic variants in patients with Parkinson's disease and REM sleep behavior disorder. PMID:28409245
Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity. PMID:28408746
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. PMID:28406212
Biomedicine: Human genes lost and their functions found. PMID:28406199
Nkx2-5 and Sarcospan genetically interact in the development of the muscular ventricular septum of the heart. PMID:28406175
Nucleotide-binding oligomerization domain (NOD) signaling defects and cell death susceptibility cannot be uncoupled in X-linked inhibitor of apoptosis (XIAP)-driven inflammatory disease. PMID:28404814
Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals. PMID:28404607
HABP2 p.G534E variant in patients with family history of thyroid and breast cancer. PMID:28402931
Omicseq: a web-based search engine for exploring omics datasets. PMID:28402462
LADD syndrome with glaucoma is caused by a novel gene. PMID:28400699
Reproducible RNA-seq analysis using recount2. PMID:28398307
Lessons from the CAGI-4 Hopkins clinical panel challenge. PMID:28397312
Characterization of a novel HESX1 mutation in a pediatric case of septo-optic dysplasia. PMID:28396770
Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations. PMID:28396765
Population- and individual-specific regulatory variation in Sardinia. PMID:28394350
Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection. PMID:28391405
Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms. PMID:28389567
RNA-binding proteins with prion-like domains in health and disease. PMID:28389532
Regulation of drug metabolism and toxicity by multiple factors of genetics, epigenetics, lncRNAs, gut microbiota, and diseases: a meeting report of the 21st International Symposium on Microsomes and Drug Oxidations (MDO). PMID:28388695
Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder. PMID:28388406
Dysmorphic Features, Frontal Cerebral Cavernoma, and Hyperglycemia in a Girl with a De Novo Deletion of 7.23 Mb in Region 7p13-p12.1. PMID:28387648
Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility. PMID:28386063
Exome Sequence Analysis of 14 Families With High Myopia. PMID:28384719
The Proteins API: accessing key integrated protein and genome information. PMID:28383659
Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder. PMID:28383544
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation. PMID:28383543
Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy? PMID:28382309
The Complex Genetic Basis of Congenital Heart Defects. PMID:28381817
Emerging concepts in liquid biopsies. PMID:28381299
The challenging interpretation of instrumental variable estimates under monotonicity. PMID:28379526
Worldwide Distribution of Cytochrome P450 Alleles: A Meta-analysis of Population-scale Sequencing Projects. PMID:28378927
Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice. PMID:28378778
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta. PMID:28378289
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. PMID:28377535
Identification of a rare coding variant in TREM2 in a Chinese individual with Alzheimer's disease. PMID:28376694
Isolated polycystic liver disease genes define effectors of polycystin-1 function. PMID:28375157
Population-Specific Resequencing Associates the ATP-Binding Cassette Subfamily C Member 4 Gene With Gout in New Zealand Māori and Pacific Men. PMID:28371506
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. PMID:28369220
Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1. PMID:28369186
The impact of structural variation on human gene expression. PMID:28369037
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. PMID:28369036
Estimating the selective effects of heterozygous protein-truncating variants from human exome data. PMID:28369035
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations. PMID:28366442
Building a family network from genetic testing. PMID:28361098
Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations. PMID:28358873
Identification of a Novel Somatic Mutation Leading to Allele Dropout for EGFR L858R Genotyping in Non-Small Cell Lung Cancer. PMID:28357677
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. PMID:28356563
PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis. PMID:28356211
Living in an adaptive world: Genomic dissection of the genus Homo and its immune response. PMID:28351985
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. PMID:28350801
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. PMID:28349240
GeneImp: Fast Imputation to Large Reference Panels Using Genotype Likelihoods from Ultralow Coverage Sequencing. PMID:28348060
Functional Analysis of the Ser149/Thr149 Variants of Human Aspartylglucosaminidase and Optimization of the Coding Sequence for Protein Production. PMID:28346360
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. PMID:28343630
Addressing Beacon re-identification attacks: quantification and mitigation of privacy risks. PMID:28339683
Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis. PMID:28337550
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. PMID:28334956
Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders. PMID:28334874
A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population. PMID:28334007
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. PMID:28327575
Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study. PMID:28327571
Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis. PMID:28326637
Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies. PMID:28325891
The need to develop a patient-centered precision medicine model for adults with chronic disability. PMID:28325089
Genomic resources for the study of neuropsychiatric disorders. PMID:28322284
Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis. PMID:28319091
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. PMID:28318500
Comparing mutation calls in fixed tumour samples between the affymetrix OncoScan® array and PCR based next-generation sequencing. PMID:28315634
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. PMID:28303347
The Israeli National Genetic database: a 10-year experience. PMID:28302154
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO). PMID:28301468
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. PMID:28301460
Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation. PMID:28300864
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. PMID:28299356
Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants. PMID:28297664
Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. PMID:28289718
Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders. PMID:28289279
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. PMID:28288114
Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population. PMID:28286897
CLASP2 Links Reelin to the Cytoskeleton during Neocortical Development. PMID:28285824
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. PMID:28285769
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. PMID:28283652
Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation. PMID:28283061
Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration. PMID:28282489
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. PMID:28274275
Alloreactivity: the Janus-face of hematopoietic stem cell transplantation. PMID:28270691
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease. PMID:28267856
Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function. PMID:28267383
KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1. PMID:28264985
Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma. PMID:28264060
Analysis of the human monocyte-derived macrophage transcriptome and response to lipopolysaccharide provides new insights into genetic aetiology of inflammatory bowel disease. PMID:28263993
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. PMID:28263302
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. PMID:28260531
Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures. PMID:28256214
Molecular features of early onset adult myelodysplastic syndrome. PMID:28255022
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. PMID:28251352
Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2. PMID:28248968
Accurate and equitable medical genomic analysis requires an understanding of demography and its influence on sample size and ratio. PMID:28241850
A Partial Calcium-Free Linker Confers Flexibility to Inner-Ear Protocadherin-15. PMID:28238533
Evaluating Variant Calling Tools for Non-Matched Next-Generation Sequencing Data. PMID:28233799
Structure-guided development of a high-affinity human Programmed Cell Death-1: Implications for tumor immunotherapy. PMID:28233730
Recent advances in understanding and treating nephrotic syndrome. PMID:28232870
Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing. PMID:28231257
Impact of Genetic Variation on Human CaMKK2 Regulation by Ca2+-Calmodulin and Multisite Phosphorylation. PMID:28230171
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1. PMID:28228640
Genetics and genomics of dilated cardiomyopathy and systolic heart failure. PMID:28228157
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine. PMID:28228131
PEMapper and PECaller provide a simplified approach to whole-genome sequencing. PMID:28223510
ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs. PMID:28222102
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. PMID:28220259
Morpholino-based correction of hypomorphic ZAP70 mutation in an adult with combined immunodeficiency. PMID:28216435
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. PMID:28215400
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. PMID:28213671
Emerging genotype-phenotype relationships in patients with large NF1 deletions. PMID:28213670
Big Data Analytics for Genomic Medicine. PMID:28212287
Designer protein disaggregases to counter neurodegenerative disease. PMID:28208059
BCFtools/csq: haplotype-aware variant consequences. PMID:28205675
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis. PMID:28205584
Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors. PMID:28202948
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. PMID:28202457
De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. PMID:28193182
Opportunities and challenges of whole-genome and -exome sequencing. PMID:28193154
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder. PMID:28192369
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. PMID:28191891
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. PMID:28191890
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. PMID:28191889
Gene-based segregation method for identifying rare variants in family-based sequencing studies. PMID:28191685
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. PMID:28190459
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation. PMID:28190454
Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2. PMID:28179634
Dosage sensitivity is a major determinant of human copy number variant pathogenicity. PMID:28176757
A novel mutation in the OAR domain of the ARX gene. PMID:28174645
Whole Exome Sequencing Reveals Severe Thrombophilia in Acute Unprovoked Idiopathic Fatal Pulmonary Embolism. PMID:28174134
The landscape of sex-differential transcriptome and its consequent selection in human adults. PMID:28173793
Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome. PMID:28168212
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation. PMID:28166811
A Temporal Perspective on the Interplay of Demography and Selection on Deleterious Variation in Humans. PMID:28159863
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26. PMID:28158657
Accurate prediction of human essential genes using only nucleotide composition and association information. PMID:28158612
The current state of clinical interpretation of sequence variants. PMID:28157586
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. PMID:28152038
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. PMID:28151489
Differences in the rare variant spectrum among human populations. PMID:28146552
Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals. PMID:28145427
Allelic Dropout During Polymerase Chain Reaction due to G-Quadruplex Structures and DNA Methylation Is Widespread at Imprinted Human Loci. PMID:28143949
Propelling the paradigm shift from reductionism to systems nutrition. PMID:28138347
Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene. PMID:28138333
Evolving health care through personal genomics. PMID:28138143
HIPred: an integrative approach to predicting haploinsufficient genes. PMID:28137713
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. PMID:28137300
Prevalence and architecture of de novo mutations in developmental disorders. PMID:28135719
Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia. PMID:28134622
Computational predictors fail to identify amino acid substitution effects at rheostat positions. PMID:28134345
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. PMID:28132692
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. PMID:28132691
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines. PMID:28132688
A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica. PMID:28130718
Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy. PMID:28126851
GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations. PMID:28125048
A variant by any name: quantifying annotation discordance across tools and clinical databases. PMID:28122645
The Metabolic Syndrome in Men study: a resource for studies of metabolic and cardiovascular diseases. PMID:28119442
Whole-exome sequencing of 228 patients with sporadic Parkinson's disease. PMID:28117402
A human immunodeficiency syndrome caused by mutations in CARMIL2. PMID:28112205
The Arc Gene Confers Genetic Susceptibility to Alzheimer's Disease in Han Chinese. PMID:28108859
How mice are indispensable for understanding obesity and diabetes genetics. PMID:28107248
Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants. PMID:28106563
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. PMID:28106320
CanVar: A resource for sharing germline variation in cancer patients. PMID:28105316
Ten Simple Rules to Enable Multi-site Collaborations through Data Sharing. PMID:28103227
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. PMID:28099038
Genomic analysis and clinical management of adolescent cutaneous melanoma. PMID:28097802
Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India. PMID:28095440
Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology. PMID:28095420
GAVIN: Gene-Aware Variant INterpretation for medical sequencing. PMID:28093075
Mutation effects predicted from sequence co-variation. PMID:28092658
Genomics pipelines and data integration: challenges and opportunities in the research setting. PMID:28092471
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. PMID:28089114
Impact of NUDT15 polymorphisms on thiopurines-induced myelotoxicity and thiopurines tolerance dose. PMID:28088792
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes. PMID:28082330
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants. PMID:28081714
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families. PMID:28076437
Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. PMID:28074886
The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation. PMID:28070732
A Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing Data. PMID:28070503
Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7. PMID:28067910
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. PMID:28067909
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. PMID:28065471
The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data. PMID:28065470
Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. PMID:28064239
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. PMID:28064200
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding. PMID:28057753
INDELseek: detection of complex insertions and deletions from next-generation sequencing data. PMID:28056804
A Model Program for Translational Medicine in Epilepsy Genetics. PMID:28056630
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. PMID:28053047
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype. PMID:28050602
Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B. PMID:28041820
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. PMID:28041643
Directly converted iNeuron as a screening model for pathogenic variants. PMID:28031528
Down syndrome and the complexity of genome dosage imbalance. PMID:28029161
Somatic Mutation Patterns in Hemizygous Genomic Regions Unveil Purifying Selection during Tumor Evolution. PMID:28027311
Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation. PMID:28018608
Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. PMID:28017472
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. PMID:28017373
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. PMID:28017372
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. PMID:28017370
High-throughput interpretation of gene structure changes in human and nonhuman resequencing data, using ACE. PMID:28011790
Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†. PMID:28011711
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. PMID:28008555
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy. PMID:28008423
Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy. PMID:28007147
A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses. PMID:28005406
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource. PMID:28003435
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice. PMID:27996060
Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility. PMID:27996046
PERCH: A Unified Framework for Disease Gene Prioritization. PMID:27995669
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. PMID:27995398
Solving Immunology? PMID:27986392
Gene discovery in amyotrophic lateral sclerosis: implications for clinical management. PMID:27982040
Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans. PMID:27977673
FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors. PMID:27974047
Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2. PMID:27967291
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms. PMID:27964749
Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights. PMID:27957775
Novel mutations involving βI-, βIIA-, or βIVB-tubulin isotypes with functional resemblance to βIII-tubulin in breast cancer. PMID:27943021
Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome. PMID:27942854
Genetic invalidation of Lp-PLA2 as a therapeutic target: Large-scale study of five functional Lp-PLA2-lowering alleles. PMID:27940953
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. PMID:27939639
Intensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats. PMID:27939289
A novel class of somatic mutations in blood detected preferentially in CD8+ cells. PMID:27932211
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records. PMID:27930734
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants. PMID:27924018
Accounting for Protein Subcellular Localization: A Compartmental Map of the Rat Liver Proteome. PMID:27923875
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics. PMID:27919237
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations. PMID:27916943
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype. PMID:27916860
Localized structural frustration for evaluating the impact of sequence variants. PMID:27915290
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases. PMID:27906200
Differential variation patterns between hubs and bottlenecks in human protein-protein interaction networks. PMID:27903259
De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. PMID:27900362
KBG syndrome involving a single-nucleotide duplication in ANKRD11. PMID:27900361
SCN8A mutation in a child presenting with seizures and developmental delays. PMID:27900360
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species. PMID:27899636
The ExAC browser: displaying reference data information from over 60 000 exomes. PMID:27899611
Ensembl 2017. PMID:27899575
Rare mutations and educational attainment. PMID:27898085
DATA SHARING AND REPRODUCIBLE CLINICAL GENETIC TESTING: SUCCESSES AND CHALLENGES. PMID:27896972
METHODS TO ENSURE THE REPRODUCIBILITY OF BIOMEDICAL RESEARCH. PMID:27896967
New insights into the generation and role of de novo mutations in health and disease. PMID:27894357
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. PMID:27888646
Identifying mutations in Tunisian families with retinal dystrophy. PMID:27874104
Titin-truncating variants affect heart function in disease cohorts and the general population. PMID:27869827
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A. PMID:27866705
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. PMID:27861128
A Cell Type-Specific Expression Signature Predicts Haploinsufficient Autism-Susceptibility Genes. PMID:27860035
Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases. PMID:27859906
The continuum of causality in human genetic disorders. PMID:27855690
Diagnostic evaluation of RNA sequencing for the detection of genetic abnormalities associated with Ph-like acute lymphoblastic leukemia (ALL). PMID:27855558
Pulmonary Vasculopathy Associated with FIGF Gene Mutation. PMID:27846380
Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian Descendants. PMID:27840609
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. PMID:27839873
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. PMID:27839871
Survey of the Heritability and Sparse Architecture of Gene Expression Traits across Human Tissues. PMID:27835642
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort. PMID:27834868
High-density array-CGH with targeted NGS unmask multiple noncontiguous minute deletions on chromosome 3p21 in mesothelioma. PMID:27834213
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. PMID:27831900
Targeted exome sequencing for the identification of a protective variant against Internet gaming disorder at rs2229910 of neurotrophic tyrosine kinase receptor, type 3 (NTRK3): A pilot study. PMID:27826991
SORL1 mutations in early- and late-onset Alzheimer disease. PMID:27822510
Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes. PMID:27822389
The UCL low-density lipoprotein receptor gene variant database: pathogenicity update. PMID:27821657
Understanding rare and common diseases in the context of human evolution. PMID:27821149
Human GRIN2B variants in neurodevelopmental disorders. PMID:27818011
A missense methionine mutation augments catalytic activity but reduces thermal stability in two protein tyrosine phosphatases. PMID:27816449
Partial deficiency of CTRP12 alters hepatic lipid metabolism. PMID:27815536
EIF2AK4 mutation as "second hit" in hereditary pulmonary arterial hypertension. PMID:27809840
mirDNMR: a gene-centered database of background de novo mutation rates in human. PMID:27799474
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects. PMID:27796292
It takes a genome to understand a village: Population scale precision medicine. PMID:27791179
Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial-mesenchymal transition. PMID:27791010
The need for a next-generation public health response to rare diseases. PMID:27787501
The road to precision psychiatry: translating genetics into disease mechanisms. PMID:27786179
TECRL: connecting sequence to consequence for a new sudden cardiac death gene. PMID:27784710
Technological considerations for genome-guided diagnosis and management of cancer. PMID:27784341
Integrating cancer genomic data into electronic health records. PMID:27784327
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy. PMID:27782105
Report on noninvasive prenatal testing: classical and alternative approaches. PMID:27781087
The global spectrum of protein-coding pharmacogenomic diversity. PMID:27779249
Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation. PMID:27777633
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. PMID:27776117
Diagnostic Interview for Genetic Studies: validity and reliability of the Croatian version. PMID:27776093
Computational pan-genomics: status, promises and challenges. PMID:27769991
Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability. PMID:27766458
Microtubule Motors Drive Hedgehog Signaling in Primary Cilia. PMID:27765513
Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis. PMID:27764668
NR1H3 p.Arg415Gln Is Not Associated to Multiple Sclerosis Risk. PMID:27764667
Phenotypic Characterization of a Comprehensive Set of MAPK1/ERK2 Missense Mutants. PMID:27760319
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. PMID:27760138
Human Germline Mutation and the Erratic Evolutionary Clock. PMID:27760127
Prospective functional classification of all possible missense variants in PPARG. PMID:27749844
Robust Inference of Identity by Descent from Exome-Sequencing Data. PMID:27745837
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. PMID:27745833
Family-Specific Variants and the Limits of Human Genetics. PMID:27742414
A radical revision of human genetics. PMID:27734888
Genomics is failing on diversity. PMID:27734877
Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences. PMID:27733777
Exome and genome sequencing for inborn errors of immunity. PMID:27720020
Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review. PMID:27713038
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. PMID:27702942
Deep sequencing of 10,000 human genomes. PMID:27702888
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. PMID:27694994
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population. PMID:27694993
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. PMID:27693232
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. PMID:27693231
Truncating Prolactin Receptor Mutations Promote Tumor Growth in Murine Estrogen Receptor-Alpha Mammary Carcinomas. PMID:27681435
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. PMID:27668699
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. PMID:27667684
Increasing Generality and Power of Rare-Variant Tests by Utilizing Extended Pedigrees. PMID:27666371
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. PMID:27657131
Population-specific single-nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans. PMID:27652279
The Genetic Landscape of Renal Complications in Type 1 Diabetes. PMID:27647854
The Contribution of Mosaic Variants to Autism Spectrum Disorder. PMID:27632392
Genetic variation: ExAC boosts clinical variant interpretation in rare diseases. PMID:27629930
Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses. PMID:27616605
Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute's genomic medicine portfolio. PMID:27612677
Genomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals novel recurrent driver mutations. PMID:27602765
Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expression. PMID:27589997
The power of multiplexed functional analysis of genetic variants. PMID:27583640
CREBRF variant increases obesity risk and protects against diabetes in Samoans. PMID:27573685
Exploring the importance of case-level clinical information for variant interpretation. PMID:27561084
Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis. PMID:27553520
Naturally Occurring Genetic Variants of Human Acetylcholinesterase and Butyrylcholinesterase and Their Potential Impact on the Risk of Toxicity from Cholinesterase Inhibitors. PMID:27551784
Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia. PMID:27551681
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. PMID:27545680
Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders. PMID:27545677
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. PMID:27545676
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. PMID:27545674
Human genomics: A deep dive into genetic variation. PMID:27535530
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. PMID:27532257
Towards precision medicine. PMID:27528417
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. PMID:27513193
Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort. PMID:27495310
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes. PMID:27486234
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. PMID:27479907
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. PMID:27476656
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects. PMID:27476655
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. PMID:27466190
Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations. PMID:27459240
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes. PMID:27456059
A thrifty variant in CREBRF strongly influences body mass index in Samoans. PMID:27455349
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. PMID:27453579
Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers. PMID:27441994
Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool. PMID:27422780
Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine. PMID:27418169
A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia. PMID:27416908
TMC-SNPdb: an Indian germline variant database derived from whole exome sequences. PMID:27402678
Type 2 diabetes: genetic data sharing to advance complex disease research. PMID:27402621
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review. PMID:27401223
Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current. PMID:27390944
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. PMID:27389779
Sequencing-based diagnostics for pediatric genetic diseases: progress and potential. PMID:27388938
Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families. PMID:27373512
Deep Genetic Connection Between Cancer and Developmental Disorders. PMID:27363847
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. PMID:27358180
Chronic Rhinosinusitis Patients Show Accumulation of Genetic Variants in PARS2. PMID:27348859
TBR1 regulates autism risk genes in the developing neocortex. PMID:27325115
Taming the genome: towards better genetic test interpretation. PMID:27324065
Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. PMID:27259053
A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease. PMID:27252175
Vcfanno: fast, flexible annotation of genetic variants. PMID:27250555
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. PMID:27247418
TP53 Mutation Spectrum in Smokers and Never Smoking Lung Cancer Patients. PMID:27242894
Discovery of rare variants for complex phenotypes. PMID:27221085
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences. PMID:27219052
Efficient analysis of large datasets and sex bias with ADMIXTURE. PMID:27216439
Kisspeptin Responsiveness Signals Emergence of Reproductive Endocrine Activity: Implications for Human Puberty. PMID:27214398
Reversal of Cytosolic One-Carbon Flux Compensates for Loss of the Mitochondrial Folate Pathway. PMID:27211901
Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients. PMID:27194806
High-performance web services for querying gene and variant annotation. PMID:27154141
Exome Sequencing of Familial Bipolar Disorder. PMID:27120077
Discovery and functional characterization of a germline, CSF2RB-activating mutation in leukemia. PMID:27118405
Association study of rare nonsynonymous variants of FTO in bipolar disorder. PMID:27105045
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency. PMID:27094817
Orthogonal NGS for High Throughput Clinical Diagnostics. PMID:27090146
A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies. PMID:27087321
Novel bioinformatic developments for exome sequencing. PMID:27075447
Identifying Allosteric Hotspots with Dynamics: Application to Inter- and Intra-species Conservation. PMID:27066750
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. PMID:27065010
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. PMID:27058447
The ANGPTL3-4-8 model, a molecular mechanism for triglyceride trafficking. PMID:27053679
Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways. PMID:27023170
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. PMID:27018475
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation. PMID:27014579
Human Knockout Carriers: Dead, Diseased, Healthy, or Improved? PMID:26988438
An extended set of yeast-based functional assays accurately identifies human disease mutations. PMID:26975778
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. PMID:26974950
Corrigendum: Swanson MA, Coughlin CR Jr, Scharer GH, et al: Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol 2015;78:606-618. PMID:26969502
Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia. PMID:26944477
Health and population effects of rare gene knockouts in adult humans with related parents. PMID:26940866
Medical implications of technical accuracy in genome sequencing. PMID:26932475
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. PMID:26919060
Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease. PMID:26911677
Testing the role of predicted gene knockouts in human anthropometric trait variation. PMID:26908616
Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing. PMID:26854089
Quantifying prion disease penetrance using large population control cohorts. PMID:26791950
Next generation sequencing of Cytokeratin 20-negative Merkel cell carcinoma reveals ultraviolet-signature mutations and recurrent TP53 and RB1 inactivation. PMID:26743471
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. PMID:26721934

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genetic variation
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:12.564649

data acquisition
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:12.564649

data integration and warehousing
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:12.564649

genomics
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:12.564649

rare diseases
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:12.564649

genetic variation data acquisition data integration and warehousing genomics rare diseases

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gnomAD

Names
More detailed information about this field from each metasource.

gnomAD
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:12.564649

gnomad
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:12.564649

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Publications:

Publications
More detailed information about this field from each metasource.

Analysis of protein-coding genetic variation in 60,706 humans
PMID: 27535533
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:12.564649

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Exome Aggregation Consortium Browser

European Variation Archive

UCSC Genome Browser database

MARRVEL

PhenomeCentral

Human Genetic Variation Database

KRGDB

ESP

al MENA

NCBI Trace Archive

Virtual Chinese Genome Database

DVD

GenBank

Gene4Denovo

DBSAV database

CMDB

LORD

Entrez

NIHR BioResource: Whole Genome Sequencing

BacWGSTdb

gnomAD Names More detailed information about this field from each metasource. × gnomAD metasource: bio.tools version: extracted_at: 2022-11-04T11:27:12.564649 gnomad metasource: bio.tools version: extracted_at: 2022-11-04T11:27:12.564649 Close

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Publications: Publications More detailed information about this field from each metasource. × Analysis of protein-coding genetic variation in 60,706 humans PMID: 27535533 metasource: bio.tools version: extracted_at: 2022-11-04T11:27:12.564649 Close

More to explore:

1/20

Exome Aggregation Consortium Browser

European Variation Archive

UCSC Genome Browser database

MARRVEL

PhenomeCentral

Human Genetic Variation Database

KRGDB

ESP

al MENA

NCBI Trace Archive

Virtual Chinese Genome Database

DVD

GenBank

Gene4Denovo

DBSAV database

CMDB

LORD

Entrez

NIHR BioResource: Whole Genome Sequencing

BacWGSTdb

gnomAD

Names
More detailed information about this field from each metasource.

gnomAD
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:12.564649

gnomad
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:12.564649

Publications:

Publications
More detailed information about this field from each metasource.

Analysis of protein-coding genetic variation in 60,706 humans
PMID: 27535533
metasource: bio.tools
version: extracted_at: 2022-11-04T11:27:12.564649