BRCA2 databases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

brca_share
metasource: bio.tools
version: extracted_at: 2022-11-04T11:31:39.692695

Other names: UMD-BRCA1/BRCA2 databases, brca_share

This source may no longer be available. No known URL could be resolved successfully.

BRCA Share is a novel gene datashare initiative that provides scientists and commercial laboratory organizations around the world with open access to BRCA Share (formerly UMD-BRCA1) contains BRCA1 and BRCA2 genetic data. The program’s goal is to accelerate research on BRCA gene mutations, particularly variants of uncertain significance, to improve the ability of clinical laboratory diagnostics to predict which individuals are at risk of developing these cancers.

Webpage:

http://www.umd.be/BRCA1/

Publications: (6)

Publications
More detailed information about this field from each metasource.

Human Splicing Finder: an online bioinformatics tool to predict splicing signals
PMID: 19339519
metasource: Fairsharing.org
version: FAIRsharing.org: BRCA Share; BRCA Share; DOI: https://doi.org/10.25504/FAIRsharing.w8wbyj; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

UMD (Universal mutation database): a generic software to build and analyze locus-specific databases
PMID: 10612827
metasource: Fairsharing.org
version: FAIRsharing.org: BRCA Share; BRCA Share; DOI: https://doi.org/10.25504/FAIRsharing.w8wbyj; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases
PMID: 22144684
metasource: Fairsharing.org
version: FAIRsharing.org: BRCA Share; BRCA Share; DOI: https://doi.org/10.25504/FAIRsharing.w8wbyj; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

metasource: bio.tools
version: extracted_at: 2022-11-04T11:31:39.692695

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2
PMID: 19370756
metasource: Fairsharing.org
version: FAIRsharing.org: BRCA Share; BRCA Share; DOI: https://doi.org/10.25504/FAIRsharing.w8wbyj; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

UMD (Universal Mutation Database): 2005 update
PMID: 16086365
metasource: Fairsharing.org
version: FAIRsharing.org: BRCA Share; BRCA Share; DOI: https://doi.org/10.25504/FAIRsharing.w8wbyj; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

http://dx.doi.org/10.1093/nar/GKR1160
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

Human Splicing Finder: an online bioinformatics tool to predict splicing signals PubMed citations: 1131.

1131 articles citing: Human Splicing Finder: an online bioinformatics tool to predict splicing signals

An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature. PMID:35886055
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis. PMID:35864190
A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family. PMID:35840783
First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy. PMID:35813381
KDM6A missense variants hamper H3 histone demethylation in lung squamous cell carcinoma. PMID:35782738
Analysis of Wilson disease mutations in copper binding domain of ATP7B gene. PMID:35763513
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population. PMID:35741838
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19. PMID:35725860
Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene. PMID:35711923
Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness. PMID:35710363
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome. PMID:35682590
Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon. PMID:35676594
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene. PMID:35627110
Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia. PMID:35613087
The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population. PMID:35565380
Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction. PMID:35534703
Genome interpretation using in silico predictors of variant impact. PMID:35488922
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease. PMID:35475888
Significance of rare variants in genes involved in the pathogenesis of Lynch syndrome. PMID:35475445
Roles of Physicochemical and Structural Properties of RNA-Binding Proteins in Predicting the Activities of Trans-Acting Splicing Factors with Machine Learning. PMID:35457243
Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants. PMID:35456503
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance. PMID:35401678
VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions. PMID:35388293
Overview of SERPING1 Variations Identified in Hungarian Patients With Hereditary Angioedema. PMID:35386643
Clinical implementation of RNA sequencing for Mendelian disease diagnostics. PMID:35379322
Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report. PMID:35334527
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia. PMID:35326432
Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions. PMID:35316210
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians. PMID:35313924
Whole-exome sequencing in a Japanese multiplex family identifies new susceptibility genes for intracranial aneurysms. PMID:35299232
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing. PMID:35293157
Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype. PMID:35289316
Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease. PMID:35271763
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations. PMID:35248096
Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes. PMID:35248088
Silent mutations reveal therapeutic vulnerability in RAS Q61 cancers. PMID:35236983
A Novel ATM Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient. PMID:35221880
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia. PMID:35213692
Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome. PMID:35196747
New insights on familial colorectal cancer type X syndrome. PMID:35181726
Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies. PMID:35175440
Potential Involvement of NSD1, KRT24 and ACACA in the Genetic Predisposition to Colorectal Cancer. PMID:35158968
Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer. PMID:35158942
A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner. PMID:35137152
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD. PMID:35135181
Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels. PMID:35132179
Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1. PMID:35119474
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity. PMID:35108495
Characterization of Synonymous BRCA1:c.132C>T as a Pathogenic Variant. PMID:35087763
Cohort-based association study of germline genetic variants with acute and chronic health complications of childhood cancer and its treatment: Genetic Risks for Childhood Cancer Complications Switzerland (GECCOS) study protocol. PMID:35074812
Novel Mutations of TSPY1 Gene Associate Spermatogenic Failure Among Men. PMID:35041134
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome. PMID:35034092
Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes. PMID:34996991
SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity. PMID:34996976
Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience. PMID:34993563
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome. PMID:34948281
A Novel WT1 Mutation Identified in a 46,XX Testicular/Ovotesticular DSD Patient Results in the Retention of Intron 9. PMID:34943163
Current status of newborn screening for Pompe disease in Japan. PMID:34922579
Identification of deleterious single nucleotide polymorphism (SNP)s in the human TBX5 gene & prediction of their structural & functional consequences: An in silico approach. PMID:34917776
Phylogenetic and Molecular Analyses Identify SNORD116 Targets Involved in the Prader-Willi Syndrome. PMID:34893870
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. PMID:34890546
A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient. PMID:34888090
Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping. PMID:34868260
Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report. PMID:34863162
Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes. PMID:34809663
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases. PMID:34795310
Novel variations in spermatogenic transcription regulators RFX2 and TAF7 increase risk of azoospermia. PMID:34762273
Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss. PMID:34733312
A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure. PMID:34715861
Identification and in silico characterization of structural and functional impacts of genetic variants in milk protein genes in the Zebu breeds Guzerat and Gyr. PMID:34705124
Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report. PMID:34691137
Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis. PMID:34682174
Chronic Granulomatous Disease and Myelodysplastic Syndrome in a Patient with a Novel Mutation in CYBB. PMID:34680870
A Recurrent STAT5BN642H Driver Mutation in Feline Alimentary T Cell Lymphoma. PMID:34680385
Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis. PMID:34669720
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. PMID:34653234
Novel Human Insulin Isoforms and Cα-Peptide Product in Islets of Langerhans and Choroid Plexus. PMID:34649926
SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families. PMID:34637099
Association between functional genetic variants in retinoid X receptor-α/γ and the risk of gestational diabetes mellitus in a southern Chinese population. PMID:34633445
Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary Immunodeficiency. PMID:34619682
Nucleotides in both donor and acceptor splice sites are responsible for choice in NAGNAG tandem splice sites. PMID:34596691
Effects of SLCO1B1 and SLCO1B3 Genetic Polymorphisms on Valsartan Pharmacokinetics in Healthy Korean Volunteers. PMID:34575639
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants. PMID:34573290
ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele. PMID:34567092
FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy. PMID:34566977
What's Wrong in a Jump? Prediction and Validation of Splice Site Variants. PMID:34564308
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism. PMID:34539727
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing. PMID:34531397
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. PMID:34524739
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression. PMID:34521872
Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy. PMID:34457359
Identification of BRCA2 Cis Double Heterozygous Breast Cancer Cases Using Whole Exome Sequencing: Phenotypic Expression and Impact on Personalized Oncology. PMID:34456966
Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma. PMID:34439168
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme. PMID:34425818
A Novel Splice Site Variant in the LDLRAP1 Gene Causes Familial Hypercholesterolemia. PMID:34425670
The First Korean Case of SLC12A3 Aberrant Skipping of Two Exons Detected by RNA Splicing Analysis. PMID:34414213
Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation. PMID:34393998
First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean's founder population. PMID:34387732
Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations. PMID:34374940
Posttranscriptional Regulation of the Human ABCG2 Multidrug Transporter Protein by Artificial Mirtrons. PMID:34356084
A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype. PMID:34355126
IntSplice2: Prediction of the Splicing Effects of Intronic Single-Nucleotide Variants Using LightGBM Modeling. PMID:34349788
Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events. PMID:34336745
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB. PMID:34327855
Deciphering the association of intronic single nucleotide polymorphisms of crystallin gene family with congenital cataract. PMID:34304179
Induction of cryptic pre-mRNA splice-switching by antisense oligonucleotides. PMID:34302060
SRSF5 regulates alternative splicing of DMTF1 pre-mRNA through modulating SF1 binding. PMID:34291726
Interpretable prioritization of splice variants in diagnostic next-generation sequencing. PMID:34289339
Germline and Somatic mutations in postmenopausal breast cancer patients. PMID:34287479
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes. PMID:34283047
Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG. PMID:34277356
Integrated Genome and Transcriptome Sequencing to Solve a Neuromuscular Puzzle: Miyoshi Muscular Dystrophy and Early Onset Primary Dystonia in Siblings of the Same Family. PMID:34276779
Human d-lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency. PMID:34258137
Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability. PMID:34244600
Whole-Exome Sequencing in a Cohort of High Myopia Patients in Northwest China. PMID:34222226
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy. PMID:34214472
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. PMID:34212438
Characterization of Rheumatoid Arthritis Risk-Associated SNPs and Identification of Novel Therapeutic Sites Using an In-Silico Approach. PMID:34199962
Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis. PMID:34194442
Relationship between P2XR4 Gene Variants and the Risk of Schizophrenia in South-East of Iran: A Preliminary Case-Control Study and in Silico Analysis. PMID:34183956
Biallelic Mutations in DNAJB11 are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family. PMID:34177435
Parp mutations protect from mitochondrial toxicity in Alzheimer's disease. PMID:34172715
Absence of Non-Canonical, Inhibitory MYD88 Splice Variants in B Cell Lymphomas Correlates With Sustained NF-κB Signaling. PMID:34163463
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment. PMID:34148116
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes. PMID:34136918
Non-invasive and high-throughput interrogation of exon-specific isoform expression. PMID:34083785
Identification of a Splice Variant (c.5074+3A>C) of BRCA1 by RNA Sequencing and TOPO Cloning. PMID:34073420
Principles and Practical Considerations for the Analysis of Disease-Associated Alternative Splicing Events Using the Gateway Cloning-Based Minigene Vectors pDESTsplice and pSpliceExpress. PMID:34068052
Genetic evaluation of the variants using MassARRAY in non-small cell lung cancer among North Indians. PMID:34050209
A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young. PMID:34032641
Genetic risk factors for colorectal cancer in multiethnic Indonesians. PMID:33976257
Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria? PMID:33973257
A Validated Functional Analysis of Partner and Localizer of BRCA2 Missense Variants for Use in Clinical Variant Interpretation. PMID:33964450
The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature. PMID:33960719
Cis-regulatory elements in conserved non-coding sequences of nuclear receptor genes indicate for crosstalk between endocrine systems. PMID:33954257
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. PMID:33949769
Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome. PMID:33941690
Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands. PMID:33939306
Disparities in COVID-19 severities and casualties across ethnic groups around the globe and patterns of ACE2 and PIR variants. PMID:33933634
Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing. PMID:33923806
Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report. PMID:33910511
Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2. PMID:33909591
Efficient splicing-based RNA regulators for tetracycline-inducible gene expression in human cell culture and C. elegans. PMID:33893804
CNGB1-related rod-cone dystrophy: A mutation review and update. PMID:33847019
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. PMID:33820833
Immunogenicity of HIV-1-Based Virus-Like Particles with Increased Incorporation and Stability of Membrane-Bound Env. PMID:33801906
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss. PMID:33799353
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. PMID:33798445
MTSplice predicts effects of genetic variants on tissue-specific splicing. PMID:33789710
A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses. PMID:33783722
Ocular Characteristics of Patients With Bardet-Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort. PMID:33777945
Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation. PMID:33776059
Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations. PMID:33771153
Targeting natural splicing plasticity of APOBEC3B restricts its expression and mutagenic activity. PMID:33753867
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
Identification of Four Novel Variants and Determination of Genotype-Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations. PMID:33732702
Thrombin in the Activation of the Fluid Contact Phase in Patients with Hereditary Angioedema Carrying the F12 P.Thr309Lys Variant. PMID:33725261
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature. PMID:33704917
Case Report: A Novel Synonymous ARPC1B Gene Mutation Causes a Syndrome of Combined Immunodeficiency, Asthma, and Allergy With Significant Intrafamilial Clinical Heterogeneity. PMID:33679784
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel. PMID:33673364
hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers. PMID:33670118
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly. PMID:33632302
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing. PMID:33597727
SNPs in the 3'-untranslated region of SLC30A8 confer risk of type 2 diabetes mellitus in a south-east Iranian population: Evidences from case-control and bioinformatics studies. PMID:33553018
Genetic analysis of 39 erythrocytosis and hereditary hemochromatosis-associated genes in the Slovenian family with idiopathic erythrocytosis. PMID:33534944
Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet-Biedl Syndrome. PMID:33520300
Possible Modulatory Role of ARC Gene Variants in Mood Disorders. PMID:33508787
Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine. PMID:33505695
Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi-Bickel Syndrome. PMID:33505429
A Deep Intronic Variant Activates a Pseudoexon in the MTM1 Gene in a Family with X-Linked Myotubular Myopathy. PMID:33505229
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans. PMID:33496845
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing. PMID:33436942
Untangling a complex web: Computational analyses of tumor molecular profiles to decode driver mechanisms. PMID:33423960
Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome. PMID:33383211
The RNA-binding profile of the splicing factor SRSF6 in immortalized human pancreatic β-cells. PMID:33376132
Intronic Determinants Coordinate Charme lncRNA Nuclear Activity through the Interaction with MATR3 and PTBP1. PMID:33357424
Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review. PMID:33345454
Investigation of Genetic Variations of IL6 and IL6R as Potential Prognostic and Pharmacogenetics Biomarkers: Implications for COVID-19 and Neuroinflammatory Disorders. PMID:33339153
Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele. PMID:33335841
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene. PMID:33333735
Association study of CCR6 rs3093024 with Rheumatoid Arthritis in a Pakistani cohort. PMID:33304142
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification. PMID:33302505
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. PMID:33300245
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing. PMID:33269076
DGAT1 mutations leading to delayed chronic diarrhoea: a case report. PMID:33261563
Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey. PMID:33224012
Polymorphic variants of drug-metabolizing enzymes alter the risk and survival of oral cancer patients. PMID:33214976
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes. PMID:33208168
Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives. PMID:33203019
Impact of a Gap Junction Protein Alpha 4 Variant on Clinical Disease Phenotype in F508del Homozygous Patients With Cystic Fibrosis. PMID:33193670
NRG1, PIP4K2A, and HTR2C as Potential Candidate Biomarker Genes for Several Clinical Subphenotypes of Depression and Bipolar Disorder. PMID:33193575
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes. PMID:33176815
Poison Exon Splicing Regulates a Coordinated Network of SR Protein Expression during Differentiation and Tumorigenesis. PMID:33176162
Novel dynein axonemal assembly factor 1 mutations identified using whole‑exome sequencing in patients with primary ciliary dyskinesia. PMID:33174003
Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations. PMID:33156427
Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz-Jeghers Syndrome: Bioinformatic and Molecular Evidence. PMID:33147782
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study. PMID:33138774
Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients. PMID:33134171
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder. PMID:33112498
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player. PMID:33108537
Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population. PMID:33105617
Myocardial disease and ventricular arrhythmia in Marfan syndrome: a prospective study. PMID:33097072
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort. PMID:33096615
A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies. PMID:33095315
Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report. PMID:33092578
Newborn Screening for Pompe Disease. PMID:33073027
Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene. PMID:33064266
Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development. PMID:33060765
Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update. PMID:33051659
Relative strength of 5' splice-site strength defines functions of SRSF2 and SRSF6 in alternative splicing of Bcl-x pre-mRNA. PMID:33050987
Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the DMD Gene. PMID:33050418
Association of Common Variants of TNFSF13 and TNFRSF13B Genes with CLL Risk and Clinical Picture, as Well as Expression of Their Products-APRIL and TACI Molecules. PMID:33036273
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening. PMID:33016649
Practical guide to genetic screening for inherited eye diseases. PMID:33015543
Genetic and Clinical Characteristics of Patients With Hereditary Spherocytosis in Hubei Province of China. PMID:33014018
Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures. PMID:32997669
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations. PMID:32989268
SIRT1 Gene SNP rs932658 Is Associated With Medication-Related Osteonecrosis of the Jaw. PMID:32967053
A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient. PMID:32949230
Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy. PMID:32936536
Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients. PMID:32934261
Characterization of CRB1 splicing in retinal organoids derived from a patient with adult-onset rod-cone dystrophy caused by the c.1892A>G and c.2548G>A variants. PMID:32931148
Splicing Enhancers at Intron-Exon Borders Participate in Acceptor Splice Sites Recognition. PMID:32911621
Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients. PMID:32909271
Outcomes of bone marrow mononuclear cell transplantation combined with interventional education for autism spectrum disorder. PMID:32902182
Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization. PMID:32881472
In silico identification of pseudo-exon activation events in personal genome and transcriptome data. PMID:32865117
Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing. PMID:32864763
Report of a germline double heterozygote in MSH2 and PALB2. PMID:32853479
Skipping Exon-v6 from CD44v6-Containing Isoforms Influences Chemotherapy Response and Self-Renewal Capacity of Gastric Cancer Cells. PMID:32842638
Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene. PMID:32821686
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene. PMID:32813700
Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes. PMID:32794656
Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations. PMID:32793520
A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate. PMID:32784565
Optimisation of Tet-On inducible systems for Sleeping Beauty-based chimeric antigen receptor (CAR) applications. PMID:32753634
Genomic analysis of inherited hearing loss in the Palestinian population. PMID:32747562
Compound heterozygous splicing CDON variants result in isolated ocular coloboma. PMID:32729136
Complex Virome in a Mesenteric Lymph Node from a Californian Sea Lion (Zalophus Californianus) with Polyserositis and Steatitis. PMID:32718049
Synonymous Mutation in DKC1 Causes Telomerase RNA Insufficiency Manifesting as Familial Pulmonary Fibrosis. PMID:32710892
CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients. PMID:32703794
Inherited variations in human pigmentation-related genes modulate cutaneous melanoma risk and clinicopathological features in Brazilian population. PMID:32699307
A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family. PMID:32697043
Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care. PMID:32679894
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease. PMID:32653833
Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency. PMID:32647378
Implications of SARS-CoV-2 Mutations for Genomic RNA Structure and Host microRNA Targeting. PMID:32645951
Strategies for whole-exome sequencing analysis in a case series study of familial male infertility. PMID:32637866
Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications. PMID:32635188
Next-Generation Sequencing of CYP2C19 in Stent Thrombosis: Implications for Clopidogrel Pharmacogenomics. PMID:32623598
Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging. PMID:32617483
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD). PMID:32612575
Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports. PMID:32597575
Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedema. PMID:32592340
Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment. PMID:32585897
Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients. PMID:32575496
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss. PMID:32562050
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex. PMID:32555378
Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant. PMID:32532881
Reticular dysgenesis caused by an intronic pathogenic variant in AK2. PMID:32532877
New DPYD variants causing DPD deficiency in patients treated with fluoropyrimidine. PMID:32529295
A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family. PMID:32519820
Genetic variants in S-adenosyl-methionine synthesis pathway and nonsyndromic cleft lip with or without cleft palate in Chile. PMID:32492698
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. PMID:32487729
Uncoupling Splicing From Transcription Using Antisense Oligonucleotides Reveals a Dual Role for I Exon Donor Splice Sites in Antibody Class Switching. PMID:32477332
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate. PMID:32467599
Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort. PMID:32411182
Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency. PMID:32400513
Genetic Counseling and NGS Screening for Recessive LGMD2A Families. PMID:32397577
Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome. PMID:32394213
iPSC-Derived Intestinal Organoids from Cystic Fibrosis Patients Acquire CFTR Activity upon TALEN-Mediated Repair of the p.F508del Mutation. PMID:32373648
Nonlinear optical microscopy is a novel tool for the analysis of cutaneous alterations in pseudoxanthoma elasticum. PMID:32372237
Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report. PMID:32362910
Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report. PMID:32354323
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. PMID:32346159
Exon Definition Facilitates Reliable Control of Alternative Splicing in the RON Proto-Oncogene. PMID:32336349
ZNF804A Gene Variants Have a Cross-diagnostic Influence on Psychosis and Treatment Improvement in Mood Disorders. PMID:32329304
RNAseq-Based Prioritization Revealed COL6A5, COL8A1, COL10A1 and MIR146A as Common and Differential Susceptibility Biomarkers for Psoriasis and Psoriatic Arthritis: Confirmation from Genotyping Analysis of 1417 Italian Subjects. PMID:32326527
Mutations in the tail domain of MYH3 contributes to atrial septal defect. PMID:32315303
Tyrosine kinase inhibitors induce alternative spliced BCR-ABLIns35bp variant via inhibition of RNA polymerase II on genomic BCR-ABL. PMID:32314454
Delivery of oligonucleotides to bone marrow to modulate ferrochelatase splicing in a mouse model of erythropoietic protoporphyria. PMID:32313951
Developmental Expression of SULT1C4 Transcript Variants in Human Liver: Implications for Discordance Between SULT1C4 mRNA and Protein Levels. PMID:32303576
Telomere Maintenance Genes are associated with Type 2 Diabetes Susceptibility in Northwest Indian Population Group. PMID:32296102
Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans. PMID:32294086
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants. PMID:32277154
The Emerging Role of the RBM20 and PTBP1 Ribonucleoproteins in Heart Development and Cardiovascular Diseases. PMID:32276354
Extending the Phenotypic Spectrum Associated with STUB1 Mutations: A Case of Dystonia. PMID:32258232
Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations. PMID:32253632
An Intergenic rs9275596 Polymorphism on Chr. 6p21 Is Associated with Multiple Sclerosis in Latvians. PMID:32244438
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis. PMID:32235485
In or Out? New Insights on Exon Recognition through Splice-Site Interdependency. PMID:32225107
Creation of different bioluminescence resonance energy transfer based biosensors with high affinity to VEGF. PMID:32214330
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES). PMID:32214004
UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays. PMID:32211025
TIMP1 intron 3 retention is a marker of colon cancer progression controlled by hnRNPA1. PMID:32200451
Photopigment genes, cones, and color update: disrupting the splicing code causes a diverse array of vision disorders. PMID:32195292
Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders? PMID:32176652
Clinical Interpretation of Sequence Variants. PMID:32176464
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies. PMID:32165484
CD-tagging-MS2: detecting allelic expression of endogenous mRNAs and their protein products in single cells. PMID:32161787
Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype. PMID:32160286
Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing. PMID:32154057
Effects of cytochrome P450 oxidoreductase genotypes on the pharmacokinetics of amlodipine in healthy Korean subjects. PMID:32134573
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes. PMID:32133419
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides. PMID:32126153
Somatic mRNA Analysis of BRCA1 Splice Variants Provides a Direct Theranostic Impact on PARP Inhibitors. PMID:32124385
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance. PMID:32123317
Clonal Selection of a Novel Deleterious TP53 Somatic Mutation Discovered in ctDNA of a KIT/PDGFRA Wild-Type Gastrointestinal Stromal Tumor Resistant to Imatinib. PMID:32116712
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders. PMID:32109419
Novel IRF6 mutations in Chinese Han families with Van der Woude syndrome. PMID:32108996
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. PMID:32097630
Identification of a Novel Splice Variant (c.423-8A>G) of APC by RNA Sequencing. PMID:32067438
Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants. PMID:32050993
Cryptic exon activation causes dystrophinopathy in two Chinese families. PMID:32047267
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. PMID:32043619
Targeted Sequencing and RNA Assay Reveal a Noncanonical JAG1 Splicing Variant Causing Alagille Syndrome. PMID:32038717
Cis- and trans-regulations of pre-mRNA splicing by RNA editing enzymes influence cancer development. PMID:32034135
Variation benchmark datasets: update, criteria, quality and applications. PMID:32016318
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. PMID:32001716
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients. PMID:31996269
Influence of GRK5 gene polymorphisms on ritodrine efficacy and adverse drug events in preterm labor treatment. PMID:31992805
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants. PMID:31992191
Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation. PMID:31982983
Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity. PMID:31973102
Germline cancer predisposition variants and pediatric glioma: a population-based study in California. PMID:31970404
Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations. PMID:31968686
CRL4-Cereblon complex in Thalidomide Embryopathy: a translational investigation. PMID:31964914
Molecular mechanisms determining severity in patients with Pierson syndrome. PMID:31959872
The Asthma-associated PER1-like domain-containing protein 1 (PERLD1) Haplotype Influences Soluble Glycosylphosphatidylinositol Anchor Protein (sGPI-AP) Levels in Serum and Immune Cell Proliferation. PMID:31959860
Consequences of Making the Inactive Active Through Changes in Antisense Oligonucleotide Chemistries. PMID:31956327
Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics. PMID:31947757
Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect. PMID:31937337
Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing. PMID:31934596
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy. PMID:31919629
The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia. PMID:31916078
Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency. PMID:31914974
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. PMID:31911677
Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family. PMID:31911611
Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles. PMID:31909088
Impact of proactive high-throughput functional assay data on BRCA1 variant interpretation in 3684 patients with breast or ovarian cancer. PMID:31907386
Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome. PMID:31906877
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability. PMID:31906484
Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients. PMID:31906439
Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations. PMID:31879567
Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism. PMID:31867598
Characterization of splice-altering mutations in inherited predisposition to cancer. PMID:31843900
Curing hemophilia A by NHEJ-mediated ectopic F8 insertion in the mouse. PMID:31843008
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders. PMID:31829210
Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism. PMID:31827253
Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome. PMID:31822864
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A. PMID:31814998
KRAS and ERBB-family genetic alterations affect response to PD-1 inhibitors in metastatic nonsquamous NSCLC. PMID:31798692
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. PMID:31794024
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β. PMID:31784499
Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy: Clinical Evaluation and Identification of the Genetic Basis. PMID:31782998
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). PMID:31782611
RNA-Seq Perspectives to Improve Clinical Diagnosis. PMID:31781178
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients. PMID:31780880
Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing. PMID:31779139
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort. PMID:31766501
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants. PMID:31752325
CpG Dinucleotides Inhibit HIV-1 Replication through Zinc Finger Antiviral Protein (ZAP)-Dependent and -Independent Mechanisms. PMID:31748389
Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy - a pilot study. PMID:31712709
KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption. PMID:31712638
Children with vesicoureteric reflux have joint hypermobility and occasional tenascin XB sequence variants. PMID:31702543
A Novel CLCN5 Splice Site Mutation in a Boy with Incomplete Phenotype of Dent Disease. PMID:31687264
Removal of the Polyglutamine Repeat of Ataxin-3 by Redirecting pre-mRNA Processing. PMID:31683630
Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa. PMID:31670143
PDE4B gene polymorphism in Russian patients with panic disorder. PMID:31663033
Novel Polyomaviruses in Mammals from Multiple Orders and Reassessment of Polyomavirus Evolution and Taxonomy. PMID:31658738
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion. PMID:31655922
Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives. PMID:31649718
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. PMID:31648317
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer. PMID:31642931
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
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly. PMID:31637876
ATG5 cancer mutations and alternative mRNA splicing reveal a conjugation switch that regulates ATG12-ATG5-ATG16L1 complex assembly and autophagy. PMID:31636955
Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1. PMID:31630786
NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene. PMID:31614793
Systematic Approach to Developing Splice Modulating Antisense Oligonucleotides. PMID:31614438
Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: a case report. PMID:31607264
The variability of SMCHD1 gene in FSHD patients: evidence of new mutations. PMID:31600781
Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro. PMID:31598268
Psychiatric disorders and SLC6A4 gene variants: possible effects on alcohol dependence and alzheimer's disease. PMID:31595439
Computational analysis of functional SNPs in Alzheimer's disease-associated endocytosis genes. PMID:31592138
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A). PMID:31555977
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. PMID:31544997
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients. PMID:31544778
Mutation screening of crystallin genes in Chinese families with congenital cataracts. PMID:31523120
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping. PMID:31519934
Reduction of integrin alpha 4 activity through splice modulating antisense oligonucleotides. PMID:31506448
Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay. PMID:31481700
A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene. PMID:31469826
A CRISPR-based base-editing screen for the functional assessment of BRCA1 variants. PMID:31467430
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly. PMID:31447096
Fusion transcripts: Unexploited vulnerabilities in cancer? PMID:31407506
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4. PMID:31397521
Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing. PMID:31391465
Analysis of macaque BTN3A genes and transcripts in the extended MHC: conserved orthologs of human γδ T cell modulators. PMID:31384962
Co-segregation of candidate polymorphism rs201204878 of the PKD1 gene in a large Iranian family with autosomal dominant polycystic disease. PMID:31384335
Missense mutations in the C-terminal portion of the B4GALNT2-encoded glycosyltransferase underlying the Sd(a-) phenotype. PMID:31367682
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. PMID:31353024
Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report. PMID:31349801
A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance. PMID:31346092
AGT haplotype in ITGA4 gene is related to antibody-mediated rejection in heart transplant patients. PMID:31335901
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases. PMID:31322791
Future directions for high-throughput splicing assays in precision medicine. PMID:31297895
Prediction of functional consequences of the five newly discovered G6PD variations in Taiwan. PMID:31294066
Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome. PMID:31285555
Histomorphology of pancreatic cancer in patients with inherited ATM serine/threonine kinase pathogenic variants. PMID:31285527
Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing. PMID:31285513
VIPdb, a genetic Variant Impact Predictor Database. PMID:31283070
Computational Analysis of Protein Structure Changes as a Result of Nondeletion Insertion Mutations in Human β-Globin Gene Suggests Possible Cause of β-Thalassemia. PMID:31275994
Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD. PMID:31275356
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
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants. PMID:31257730
Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome. PMID:31251474
Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome. PMID:31245936
A novel ABCC6 variant causative of pseudoxanthoma elasticum. PMID:31240106
Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report. PMID:31234783
Beyond the Big Five: Investigating Myostatin Structure, Polymorphism and Expression in Camelus dromedarius. PMID:31231423
NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas. PMID:31227763
Characterization of intellectual disability and autism comorbidity through gene panel sequencing. PMID:31209962
Programmable mutually exclusive alternative splicing for generating RNA and protein diversity. PMID:31209208
Profound analgesia is associated with a truncated peptide resulting from tissue specific alternative splicing of DRG CA8-204 regulated by an exon-level cis-eQTL. PMID:31199789
NF1 mutations identify molecular and clinical subtypes of lung adenocarcinomas. PMID:31199580
Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15. PMID:31191615
The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder. PMID:31191442
Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer. PMID:31168774
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants. PMID:31167805
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations. PMID:31159747
Single nucleotide and structural variants of CYP2D6 gene in Kinh Vietnamese population. PMID:31145348
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge. PMID:31144778
Association of newly identified genetic variant rs2853677 of TERT with non-small cell lung cancer and leukemia in population of Jammu and Kashmir, India. PMID:31126249
Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations. PMID:31119508
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases. PMID:31106028
Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis. PMID:31105743
Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report. PMID:31101089
Predicting the impact of single nucleotide variants on splicing via sequence-based deep neural networks and genomic features. PMID:31090248
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene. PMID:31088393
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. PMID:31081514
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients. PMID:31076647
Using secondary structure to predict the effects of genetic variants on alternative splicing. PMID:31074545
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
Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations. PMID:31029159
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome. PMID:31029150
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. PMID:31019989
Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay. PMID:31010896
Correction of IVS I-110(G>A) β-thalassemia by CRISPR/Cas-and TALEN-mediated disruption of aberrant regulatory elements in human hematopoietic stem and progenitor cells. PMID:31004018
De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application. PMID:31001316
Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools. PMID:30996306
Are SGLT2 polymorphisms linked to diabetes mellitus and cardiovascular disease? Prospective study and meta-analysis. PMID:30988077
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders. PMID:30985853
ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration. PMID:30985297
A genome-wide association study of tramadol metabolism from post-mortem samples. PMID:30971809
A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa. PMID:30967900
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports. PMID:30961538
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families. PMID:30947698
HPV18 Utilizes Two Alternative Branch Sites for E6*I Splicing to Produce E7 Protein. PMID:30945125
Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants. PMID:30906834
Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta. PMID:30905256
A synonymous germline variant in a gene encoding a cell adhesion molecule is associated with cutaneous mast cell tumour development in Labrador and Golden Retrievers. PMID:30901340
Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil. PMID:30895400
Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex. PMID:30872599
Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy. PMID:30858397
A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency. PMID:30850927
Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction. PMID:30838481
Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies. PMID:30833962
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance. PMID:30832263
MMSplice: modular modeling improves the predictions of genetic variant effects on splicing. PMID:30823901
A Modifying Autoantigen in Graves' Disease. PMID:30822352
A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews. PMID:30820151
Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families. PMID:30820146
Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients. PMID:30816137
Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder. PMID:30800045
Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families. PMID:30797226
Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency. PMID:30791524
Functional deficiency in endogenous interleukin-1 receptor antagonist in patients with febrile infection-related epilepsy syndrome. PMID:30779222
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. PMID:30773277
GATA4 molecular screening and assessment of environmental risk factors in a Moroccan cohort with tetralogy of Fallot. PMID:30766556
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients. PMID:30764848
Nevoid Basal Cell Carcinoma Syndrome: PTCH1 Mutation Profile and Expression of Genes Involved in the Hedgehog Pathway in Argentinian Patients. PMID:30754660
High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism. PMID:30733481
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. PMID:30718709
Identification of human endogenous retrovirus transcripts in Hodgkin Lymphoma cells. PMID:30707417
Bethlem myopathy: a series of 16 patients and description of seven new associated mutations. PMID:30706156
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. PMID:30688039
A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses. PMID:30664192
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS. PMID:30647093
CDH1 somatic alterations in Mexican patients with diffuse and mixed sporadic gastric cancer. PMID:30642281
Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability. PMID:30631761
Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation. PMID:30628748
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations. PMID:30622556
Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations. PMID:30621608
A novel phenotype with splicing mutation identified in a Chinese family with desminopathy. PMID:30614851
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. PMID:30600594
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. PMID:30576320
Extensive Alternative Splicing of KIR Transcripts. PMID:30564240
A common pathomechanism in GMAP-210- and LBR-related diseases. PMID:30518689
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
Phylogenetic and mutational analyses of human LEUTX, a homeobox gene implicated in embryogenesis. PMID:30479355
Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes. PMID:30473481
Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients. PMID:30470980
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. PMID:30459346
WebHERV: A Web Server for the Computational Investigation of Gene Expression Associated With Endogenous Retrovirus-Like Sequences. PMID:30455669
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation. PMID:30425284
In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses. PMID:30384423
Spectrum of the KIT Gene Mutations in Gastrointestinal Stromal Tumors in Arab Patients. PMID:30362320
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. PMID:30361506
A novel intronic homozygous mutation in the AMT gene of a patient with nonketotic hyperglycinemia and hyperammonemia. PMID:30350008
Severe toxicity to capecitabine due to a new variant at a donor splicing site in the dihydropyrimidine dehydrogenase (DPYD) gene. PMID:30349384
Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertility. PMID:30333325
Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay. PMID:30315214
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. PMID:30311390
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. PMID:30311380
Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype. PMID:30304678
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. PMID:30303587
Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome. PMID:30285761
Functional Interaction Between BRCA1 and DNA Repair in Yeast May Uncover a Role of RAD50, RAD51, MRE11A, and MSH6 Somatic Variants in Cancer Development. PMID:30283497
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. PMID:30279455
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
Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria. PMID:30257646
Targeted Next-Generation Sequencing of MLH1, MSH2, and MSH6 Genes in Patients with Endometrial Carcinoma under 50 Years of Age. PMID:30238922
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations? PMID:30233647
Accurate classification of BRCA1 variants with saturation genome editing. PMID:30209399
Novel and de novo mutations in pediatric refractory epilepsy. PMID:30185235
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment. PMID:30177809
In Vitro Multiexon Skipping by Antisense PMOs in Dystrophic Dog and Exon 7-Deleted DMD Patient. PMID:30171540
Genetic regulation of antibody responsiveness to immunization in substrains of BALB/c mice. PMID:30152893
Circular DNA tumor viruses make circular RNAs. PMID:30150410
Impact of non-LTR retrotransposons in the differentiation and evolution of anatomically modern humans. PMID:30147753
Novel mutations in HSF4 cause congenital cataracts in Chinese families. PMID:30143024
Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis. PMID:30134826
Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic. PMID:30126379
Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece. PMID:30111881
Dissecting KMT2D missense mutations in Kabuki syndrome patients. PMID:30107592
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants. PMID:30097616
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. PMID:30079490
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. PMID:30075111
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons. PMID:30072435
A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon. PMID:30071673
In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria. PMID:30069816
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort. PMID:30060493
DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes. PMID:30054569
Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene. PMID:30046696
Defects of splicing in antithrombin deficiency. PMID:30046692
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas. PMID:30006736
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus. PMID:29983323
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
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis. PMID:29973134
Comprehensive in-silico prediction of damage associated SNPs in Human Prolidase gene. PMID:29930383
Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect. PMID:29923154
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. PMID:29917077
Hereditary breast and ovarian cancer in Andalusian families: a genetic population study. PMID:29884136
Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays. PMID:29881398
Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes. PMID:29861492
VarAFT: a variant annotation and filtration system for human next generation sequencing data. PMID:29860484
Antisense Oligonucleotide-Mediated Terminal Intron Retention of the SMN2 Transcript. PMID:29858094
Somatic mutations in early onset luminal breast cancer. PMID:29854292
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. PMID:29750258
Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79. PMID:29735986
Small nuclear RNA-mediated modulation of splicing reveals a therapeutic strategy for a TREM2 mutation and its post-transcriptional regulation. PMID:29720600
Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers. PMID:29720576
Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer. PMID:29707112
Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms. PMID:29706353
Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients. PMID:29703730
Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants. PMID:29696773
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome. PMID:29695797
Novel CASK mutations in cases with syndromic microcephaly. PMID:29691940
Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site. PMID:29684050
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease. PMID:29683450
Splicing mutations in human genetic disorders: examples, detection, and confirmation. PMID:29680930
Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis. PMID:29669943
Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer. PMID:29659569
An intronic mutation c.6430-3C>G in the F8 gene causes splicing efficiency and premature termination in hemophilia A. PMID:29652675
Mutations in membrane cofactor protein (CD46) gene in Indian children with hemolytic uremic syndrome. PMID:29644059
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome. PMID:29642415
Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability. PMID:29607243
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study. PMID:29605429
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. PMID:29604224
The complexity of titin splicing pattern in human adult skeletal muscles. PMID:29598826
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. PMID:29590070
Novel MSH2 splice-site mutation in a young patient with Lynch syndrome. PMID:29568967
Deficiency of immunoregulatory indoleamine 2,3-dioxygenase 1in juvenile diabetes. PMID:29563329
A Rare Missense Mutation and a Polymorphism with High Frequency in LDLR Gene among Iranian Patients with Familial Hypercholesterolemia. PMID:29531935
An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome. PMID:29531775
HLA-G Haplotypes Are Differentially Associated with Asthmatic Features. PMID:29527207
RNA Trans-Splicing Modulation via Antisense Molecule Interference. PMID:29518954
CRISPR-Cas9-Based Genome Editing of Human Induced Pluripotent Stem Cells. PMID:29512106
Spliced integrated retrotransposed element (SpIRE) formation in the human genome. PMID:29505568
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. PMID:29499165
Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations. PMID:29493090
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases. PMID:29487416
Unique CD44 intronic SNP is associated with tumor grade in breast cancer: a case control study and in silico analysis. PMID:29483847
In Silico Preliminary Association of Ammonia Metabolism Genes GLS, CPS1, and GLUL with Risk of Alzheimer's Disease, Major Depressive Disorder, and Type 2 Diabetes. PMID:29441491
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome. PMID:29422660
Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome. PMID:29401559
Paediatric genomics: diagnosing rare disease in children. PMID:29398702
Differential Regulation of LET-7 by LIN28B Isoform-Specific Functions. PMID:29330293
Rare loss of function mutations in N-methyl-D-aspartate glutamate receptors and their contributions to schizophrenia susceptibility. PMID:29317596
Silencing of the lncRNA Zeb2-NAT facilitates reprogramming of aged fibroblasts and safeguards stem cell pluripotency. PMID:29311544
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease. PMID:29300302
Genetic contribution of retinoid-related genes to neural tube defects. PMID:29297599
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. PMID:29290337
Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis. PMID:29281699
A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy. PMID:29271071
High Prevalence of Diabetes-Predisposing Variants in MODY Genes Among Danish Women With Gestational Diabetes Mellitus. PMID:29264522
Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP. PMID:29261713
Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis. PMID:29261184
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. PMID:29255276
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains. PMID:29240685
Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations. PMID:29230583
Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients. PMID:29216901
Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2. PMID:29207168
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis. PMID:29202719
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach. PMID:29202463
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes. PMID:29190809
A Multilayered Control of the Human Survival Motor Neuron Gene Expression by Alu Elements. PMID:29187847
PON-SC - program for identifying steric clashes caused by amino acid substitutions. PMID:29187139
Successful Treatment of Estrogen Excess in Primary Bilateral Macronodular Adrenocortical Hyperplasia with Leuprolide Acetate. PMID:29183089
A study of splicing mutations in disorders of sex development. PMID:29176693
Human canonical CD157/Bst1 is an alternatively spliced isoform masking a previously unidentified primate-specific exon included in a novel transcript. PMID:29162908
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease. PMID:29162642
Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes. PMID:29159471
Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH. PMID:29157204
Significance of functional disease-causal/susceptible variants identified by whole-genome analyses for the understanding of human diseases. PMID:29129848
Identification of functional single nucleotide polymorphisms in the branchpoint site. PMID:29121990
18F-DOPA PET/CT and 68Ga-DOTANOC PET/CT scans as diagnostic tools in focal congenital hyperinsulinism: a blinded evaluation. PMID:29116340
Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy. PMID:29101517
Overcoming imatinib resistance conferred by the BIM deletion polymorphism in chronic myeloid leukemia with splice-switching antisense oligonucleotides. PMID:29100409
Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome. PMID:29095867
BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile. PMID:29088781
Haplotype-specific MAPT exon 3 expression regulated by common intronic polymorphisms associated with Parkinsonian disorders. PMID:29084565
Somatic mutation driven codon transition bias in human cancer. PMID:29079855
Full-gene haplotypes refine CYP2D6 metabolizer phenotype inferences. PMID:29075918
The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA. PMID:29062221
Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients. PMID:29061162
Association analysis identifies 65 new breast cancer risk loci. PMID:29059683
Novel mutations in Darier disease and association to self-reported disease severity. PMID:29028823
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development. PMID:29027299
Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis. PMID:28981473
Mutations in folate transporter genes and risk for human myelomeningocele. PMID:28948692
Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report. PMID:28927399
The synonymous nucleotide substitution RHD 1056C>G alters mRNA splicing associated with serologically weak D phenotype. PMID:28926139
USH2A Gene Editing Using the CRISPR System. PMID:28918053
Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice. PMID:28918024
Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases. PMID:28914264
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder. PMID:28867142
Interleukin-6, tumor necrosis factor-alpha and receptor activator of nuclear factor kappa ligand are elevated in hypertrophic gastric mucosa of pachydermoperiostosis. PMID:28851954
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. PMID:28842795
Population genetics of IFITM3 in Portugal and Central Africa reveals a potential modifier of influenza severity. PMID:28842783
A regulated PNUTS mRNA to lncRNA splice switch mediates EMT and tumour progression. PMID:28825698
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. PMID:28819299
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. PMID:28808027
New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders. PMID:28801591
Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes. PMID:28800606
Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy. PMID:28797094
Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. PMID:28779002
Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics? PMID:28758972
Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy. PMID:28758032
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. PMID:28754744
Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B. PMID:28752769
Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease-Causing Mutation. PMID:28739862
Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families. PMID:28738860
Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity. PMID:28725320
Novel BRCA1 splice-site mutation in ovarian cancer patients of Slavic origin. PMID:28685474
Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3. PMID:28665926
ISVASE: identification of sequence variant associated with splicing event using RNA-seq data. PMID:28659141
Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology. PMID:28629821
Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease. PMID:28624228
Analysis of Complement C3 Gene Reveals Susceptibility to Severe Preeclampsia. PMID:28611769
Genetic diagnosis of Mendelian disorders via RNA sequencing. PMID:28604674
Normal and altered pre-mRNA processing in the DMD gene. PMID:28597072
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. PMID:28575648
A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families. PMID:28573494
A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation. PMID:28546535
Polycystic Kidney Disease without an Apparent Family History. PMID:28522688
Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations. PMID:28516000
Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension. PMID:28507310
Clinical significance of intronic variants in BRAF inhibitor resistant melanomas with altered BRAF transcript splicing. PMID:28503307
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. PMID:28502102
Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods. PMID:28494185
Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb. PMID:28488682
New advances in DPYD genotype and risk of severe toxicity under capecitabine. PMID:28481884
Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome. PMID:28481244
13 novel putative mutations in ATP7A found in a cohort of 25 Italian families. PMID:28451781
Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients. PMID:28442722
Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease. PMID:28430823
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. PMID:28424332
POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer. PMID:28423643
A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis. PMID:28423518
XRCC5 VNTR, XRCC6 -61C>G, and XRCC7 6721G>T Gene Polymorphisms Associated with Male Infertility Risk: Evidences from Case-Control and In Silico Studies. PMID:28421111
High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis. PMID:28413711
Global genetic variation of select opiate metabolism genes in self-reported healthy individuals. PMID:28398354
High-confidence coding and noncoding transcriptome maps. PMID:28396519
Mutations in proteasome-related genes are associated with thyroid hemiagenesis. PMID:28390009
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease. PMID:28389643
A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension. PMID:28388887
Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene. PMID:28361105
Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. PMID:28339459
Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent. PMID:28327576
Facial cutaneo-mucosal venous malformations can develop independently of mutation of TEK gene but may be associated with excessive expression of Src and p-Src. PMID:28316284
A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome. PMID:28289596
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. PMID:28281779
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. PMID:28274275
KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1. PMID:28264985
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. PMID:28251733
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. PMID:28216230
Transfer of Anti-Rotavirus Antibodies during Pregnancy and in Milk Following Maternal Vaccination with a Herpes Simplex Virus Type-1 Amplicon Vector. PMID:28212334
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. PMID:28176767
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. PMID:28132693
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing. PMID:28127548
Polymorphisms in the canine monoamine oxidase a (MAOA) gene: identification and variation among five broad dog breed groups. PMID:28101368
Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS. PMID:28100912
Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease. PMID:28050124
Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle. PMID:28045018
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. PMID:28041643
GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease. PMID:28030538
Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome. PMID:28013382
Regulation of photoreceptor gene transcription via a highly conserved transcriptional regulatory element by vsx gene products. PMID:28003732
Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. PMID:27993330
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. PMID:27977773
Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2. PMID:27967291
Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site. PMID:27956217
Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil. PMID:27914478
Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11. PMID:27900367
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing. PMID:27898983
Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines. PMID:27896104
An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death. PMID:27893734
Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1. PMID:27874857
New SLC12A3 disease causative mutation of Gitelman's syndrome. PMID:27872838
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy. PMID:27858732
Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis. PMID:27788217
Cryptic exon activation in SLC12A3 in Gitelman syndrome. PMID:27784896
NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population. PMID:27752029
Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study. PMID:27737317
Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa. PMID:27734943
Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation. PMID:27734835
Antisense oligonucleotide-mediated exon skipping as a strategy to reduce proteolytic cleavage of ataxin-3. PMID:27731380
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. PMID:27647186
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report. PMID:27634379
Complex inheritance in Pulmonary Arterial Hypertension patients with several mutations. PMID:27630060
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations. PMID:27624628
Genetic Testing as a New Standard for Clinical Diagnosis of Color Vision Deficiencies. PMID:27622081
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis. PMID:27616481
Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. PMID:27609317
Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees. PMID:27602322
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. PMID:27588451
Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies. PMID:27582364
Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD. PMID:27572114
Genetic Screening of Pediatric Cavernous Malformations. PMID:27561926
Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5' splice site. PMID:27543438
Complement-Regulatory Proteins CFHR1 and CFHR3 and Patient Response to Anti-CD20 Monoclonal Antibody Therapy. PMID:27528699
Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome. PMID:27523285
Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for Prostate Cancer. PMID:27515689
In silico analysis of novel mutations in maple syrup urine disease patients from Iran. PMID:27507644
A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia. PMID:27501013
hiPSC-derived cardiomyocytes from Brugada Syndrome patients without identified mutations do not exhibit clear cellular electrophysiological abnormalities. PMID:27485484
Bioinformatics Approach for Prediction of Functional Coding/Noncoding Simple Polymorphisms (SNPs/Indels) in Human BRAF Gene. PMID:27478437
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. PMID:27476653
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality. PMID:27467453
A multifaceted computational report on the variants effect on KIR2DL3 and IFNL3 candidate gene in HCV clearance. PMID:27461217
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. PMID:27457812
Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. PMID:27440999
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. PMID:27374770
Novel multiple endocrine neoplasia type 1 variations in patients with sporadic primary hyperparathyroidism. PMID:27366707
Missense splice variant (g.20746A>G, p.Ile183Val) of interferon gamma receptor 1 (IFNGR1) coincidental with mycobacterial osteomyelitis - a screen of osteoarticular lesions. PMID:27356097
Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome. PMID:27343256
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions. PMID:27313609
Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India. PMID:27291587
ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry. PMID:27270457
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. PMID:27270174
Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis. PMID:27264265
Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group. PMID:27262448
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. PMID:27259756
Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC). PMID:27234654
Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function. PMID:27227676
Characterization of the Regulation of CD46 RNA Alternative Splicing. PMID:27226545
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. PMID:27225849
Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR. PMID:27217716
Exome sequencing of extreme clopidogrel response phenotypes identifies B4GALT2 as a determinant of on-treatment platelet reactivity. PMID:27213804
SUGP1 is a novel regulator of cholesterol metabolism. PMID:27206982
Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy. PMID:27185954
CADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel. PMID:27148939
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey. PMID:27144933
Clinical and genetic features of cervical dystonia in a large multicenter cohort. PMID:27123488
Impact of ACE2 gene polymorphism on antihypertensive efficacy of ACE inhibitors. PMID:27121444
Separating the wheat from the chaff: systematic identification of functionally relevant noncoding variants in ADHD. PMID:27113999
PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. PMID:27103379
Excess of rare coding variants in PLD3 in late- but not early-onset Alzheimer's disease. PMID:27081517
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1. PMID:27074763
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. PMID:27064304
Splicing-dependent expression of microRNAs of mirtron origin in human digestive and excretory system cancer cells. PMID:27019673
Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases. PMID:27014590
IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome. PMID:27009626
Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease. PMID:26981328
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. PMID:26974433
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. PMID:26942284
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. PMID:26924530
Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis. PMID:26852919
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution. PMID:26842889
Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage. PMID:26842708
Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease. PMID:26803359
A novel splicing mutation in the SLC9A3R1 gene in tumors from ovarian cancer patients. PMID:26788197
Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene. PMID:26763876
Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools. PMID:26761715
126 novel mutations in Italian patients with neurofibromatosis type 1. PMID:26740943
Genomic structure and expression of the human serotonin 2A receptor gene (HTR2A) locus: identification of novel HTR2A and antisense (HTR2A-AS1) exons. PMID:26738766
Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia. PMID:26716871
Vemurafenib-resistant BRAF selects alternative branch points different from its wild-type BRAF in intron 8 for RNA splicing. PMID:26697165
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease. PMID:26695994
A novel long non-coding RNA in the rheumatoid arthritis risk locus TRAF1-C5 influences C5 mRNA levels. PMID:26673966
A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment. PMID:26648831
Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease. PMID:26632257
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. PMID:26626312
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family. PMID:26621532
Endothelial Gata5 transcription factor regulates blood pressure. PMID:26617239
Adaptive Evolution Coupled with Retrotransposon Exaptation Allowed for the Generation of a Human-Protein-Specific Coding Gene That Promotes Cancer Cell Proliferation and Metastasis in Both Haematological Malignancies and Solid Tumours: The Extraordinary Case of MYEOV Gene. PMID:26568894
Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders. PMID:26561290
A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets. PMID:26559751
A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis. PMID:26506231
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. PMID:26502894
GREM1 and POLE variants in hereditary colorectal cancer syndromes. PMID:26493165
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. PMID:26491070
Identification of Two Novel Members of the Tentative Genus Wukipolyomavirus in Wild Rodents. PMID:26474048
Multiple breast cancer risk variants are associated with differential transcript isoform expression in tumors. PMID:26472073
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. PMID:26467025
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease. PMID:26453610
Siaα2-3Galβ1- Receptor Genetic Variants Are Associated with Influenza A(H1N1)pdm09 Severity. PMID:26436774
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. PMID:26432670
Isolation and characterization of novel RECK tumor suppressor gene splice variants. PMID:26431549
NPHS2 mutations account for only 15% of nephrotic syndrome cases. PMID:26420286
A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia. PMID:26410747
Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis. PMID:26396485
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. PMID:26365339
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy. PMID:26350383
Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks. PMID:26350354
CoSREM: a graph mining algorithm for the discovery of combinatorial splicing regulatory elements. PMID:26337677
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. PMID:26333996
DNA repair genes implicated in triple negative familial non-BRCA1/2 breast cancer predisposition. PMID:26328243
Allelic variation in CRHR1 predisposes to panic disorder: evidence for biased fear processing. PMID:26324098
Defects in NADPH Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel Disease. PMID:26301257
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls. PMID:26283626
DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients. PMID:26278106
Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation. PMID:26262567
Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors. PMID:26257827
Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient. PMID:26247048
Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency. PMID:26235511
Association between the Advanced Glycosylation End Product-Specific Receptor Gene and Cardiovascular Death in Older Men. PMID:26226616
Genetic Variants Associated with Port-Wine Stains. PMID:26192947
Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients. PMID:26176944
GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus. PMID:26160353
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families. PMID:26147992
Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure. PMID:26139570
Characterization of T Antigens, Including Middle T and Alternative T, Expressed by the Human Polyomavirus Associated with Trichodysplasia Spinulosa. PMID:26136575
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. PMID:26133662
Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process. PMID:26106619
Statistical and Computational Methods for Genetic Diseases: An Overview. PMID:26106440
Functional VEGFA knockdown with artificial 3'-tailed mirtrons defined by 5' splice site and branch point. PMID:26089392
Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing. PMID:26077743
A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle. PMID:26076463
The MS Risk Allele of CD40 Is Associated with Reduced Cell-Membrane Bound Expression in Antigen Presenting Cells: Implications for Gene Function. PMID:26068105
Variation in the bovine FABP4 gene affects milk yield and milk protein content in dairy cows. PMID:26067182
Developments in our understanding of the genetic basis of birth defects. PMID:26033863
Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjögren's syndrome. PMID:26031516
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3. PMID:26029709
The CYP2C19 Intron 2 Branch Point SNP is the Ancestral Polymorphism Contributing to the Poor Metabolizer Phenotype in Livers with CYP2C19*35 and CYP2C19*2 Alleles. PMID:26021325
Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis. PMID:25983621
Evaluation of BRCA1/2 mutational status among German and Austrian women with triple-negative breast cancer. PMID:25971625
Genetics of GNE myopathy in the non-Jewish Persian population. PMID:25966635
Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies. PMID:25943428
Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. PMID:25928201
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency. PMID:25885655
Mutation analysis in patients with total sperm immotility. PMID:25877373
Leukocyte adhesion deficiency-I with a novel intronic mutation presenting with pyoderma gangrenosum- like lesions. PMID:25876705
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome. PMID:25854283
A conserved intronic U1 snRNP-binding sequence promotes trans-splicing in Drosophila. PMID:25838544
In silico screening based on predictive algorithms as a design tool for exon skipping oligonucleotides in Duchenne muscular dystrophy. PMID:25816009
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy. PMID:25804398
Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease. PMID:25757501
Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences. PMID:25742305
New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing. PMID:25740612
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis. PMID:25717368
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy. PMID:25692139
There is variability in the attainment of developmental milestones in the CDKL5 disorder. PMID:25657822
Genotypic and allelic variability in CYP19A1 among populations of African and European ancestry. PMID:25647083
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy. PMID:25629076
JAK2 exon 14 skipping in patients with primary myelofibrosis: a minor splice variant modulated by the JAK2-V617F allele burden. PMID:25617626
PSMA6 (rs2277460, rs1048990), PSMC6 (rs2295826, rs2295827) and PSMA3 (rs2348071) genetic diversity in Latvians, Lithuanians and Taiwanese. PMID:25606411
Association between co-inhibitory molecule gene tagging single nucleotide polymorphisms and the risk of colorectal cancer in Chinese. PMID:25604582
Ophthalmic and molecular genetic findings in Kniest dysplasia. PMID:25592122
A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family. PMID:25572248
Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis. PMID:25569440
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome. PMID:25565929
Intronic and promoter polymorphisms of hMLH1/hMSH2 and colorectal cancer risk in Heilongjiang Province of China. PMID:25560462
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism. PMID:25555642
A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides. PMID:25493284
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations. PMID:25491247
Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease. PMID:25491204
Computational approaches to interpreting genomic sequence variation. PMID:25473426
Targeted exon sequencing in Usher syndrome type I. PMID:25468891
In silico prediction of splice-altering single nucleotide variants in the human genome. PMID:25416802
Genetic and toxicologic investigation of Sudden Cardiac Death in a patient with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) under cocaine and alcohol effects. PMID:25399050
Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons. PMID:25382762
Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor. PMID:25375143
Analysis of COQ2 gene in multiple system atrophy. PMID:25373618
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1. PMID:25370034
Genome-wide association study identifies phospholipase C zeta 1 (PLCz1) as a stallion fertility locus in Hanoverian warmblood horses. PMID:25354211
Expanding the mutational spectrum of LZTR1 in schwannomatosis. PMID:25335493
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease. PMID:25333065
TRAP150 activates splicing in composite terminal exons. PMID:25326322
Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease. PMID:25305078
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). PMID:25193871
Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA. PMID:25180293
Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis. PMID:25133613
Alteration of conserved alternative splicing in AMELX causes enamel defects. PMID:25117480
Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection. PMID:25116393
Predicting survival in head and neck squamous cell carcinoma from TP53 mutation. PMID:25108461
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. PMID:25105227
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. PMID:25093588
Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population. PMID:25081408
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients. PMID:25079074
Genetic and clinical analysis of ABCA4-associated disease in African American patients. PMID:25066811
Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions. PMID:25066652
Identification of novel GRM1 mutations and single nucleotide polymorphisms in prostate cancer cell lines and tissues. PMID:25062106
BRCA1 EXON 11, a CERES (composite regulatory element of splicing) element involved in splice regulation. PMID:25056543
Missing genetic risk in neural tube defects: can exome sequencing yield an insight? PMID:25044326
Identification of Kv11.1 isoform switch as a novel pathogenic mechanism of long-QT syndrome. PMID:25028483
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. PMID:25025039
Complexity of the 5'UTR region of the CLCN5 gene: eleven 5'UTR ends are differentially expressed in the human kidney. PMID:25001568
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. PMID:24997988
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier. PMID:24970096
Investigation of the involvement of MIR185 and its target genes in the development of schizophrenia. PMID:24936775
A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia. PMID:24936516
Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome. PMID:24918291
A bioinformatic and computational study of myosin phosphatase subunit diversity. PMID:24898838
Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes. PMID:24896146
Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2. PMID:24892836
PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing. PMID:24890387
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. PMID:24886118
Improving mutation screening in familial hematuric nephropathies through next generation sequencing. PMID:24854265
Development of therapeutic splice-switching oligonucleotides. PMID:24826963
A polymorphism of ORAI1 rs7135617, is associated with susceptibility to rheumatoid arthritis. PMID:24808640
The prognostic significance of polymorphisms in hMLH1/hMSH2 for colorectal cancer. PMID:24793746
Functional analyses of C.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism. PMID:24745015
Identification of cis-acting elements and splicing factors involved in the regulation of BIM Pre-mRNA splicing. PMID:24743263
BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan. PMID:24729269
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders. PMID:24720851
Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies. PMID:24713488
Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease. PMID:24694054
Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene. PMID:24667412
BRCA1 exon 11 a model of long exon splicing regulation. PMID:24658338
Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome. PMID:24657120
Characterisation of genetic variation in ST8SIA2 and its interaction region in NCAM1 in patients with bipolar disorder. PMID:24651862
Looking for the bird Kiss: evolutionary scenario in sauropsids. PMID:24552453
Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies. PMID:24516651
Experience of targeted Usher exome sequencing as a clinical test. PMID:24498627
Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study. PMID:24498038
Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation. PMID:24489791
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. PMID:24462369
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. PMID:24451234
In silico to in vivo splicing analysis using splicing code models. PMID:24321485
Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity. PMID:24302565
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene. PMID:24301060
SPOCK3, a risk gene for adult ADHD and personality disorders. PMID:24292267
Common and rare single nucleotide polymorphisms in the LDLR gene are present in a black South African population and associate with low-density lipoprotein cholesterol levels. PMID:24284361
In silico tools for splicing defect prediction: a survey from the viewpoint of end users. PMID:24263461
A family with Wagner syndrome with uveitis and a new versican mutation. PMID:24174867
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update. PMID:24169522
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition. PMID:24169519
Fine mapping on chromosome 13q32-34 and brain expression analysis implicates MYO16 in schizophrenia. PMID:24141571
Dispelling myths about rare disease registry system development. PMID:24131574
TOX3 mutations in breast cancer. PMID:24069272
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). PMID:24026985
Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients. PMID:24024198
Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation. PMID:24019930
Splicing variants of SERPINA1 gene in ovine milk: characterization of cDNA and identification of polymorphisms. PMID:24009725
Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome. PMID:24005575
Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon. PMID:24002164
HNRNPA1 regulates HMGCR alternative splicing and modulates cellular cholesterol metabolism. PMID:24001602
A genome-wide association study of total serum and mite-specific IgEs in asthma patients. PMID:23967269
Leprosy association with low MASP-2 levels generated by MASP2 haplotypes and polymorphisms flanking MAp19 exon 5. PMID:23935922
Computational approaches to identify functional genetic variants in cancer genomes. PMID:23900255
Polymorphisms, de novo lipogenesis, and plasma triglyceride response following fish oil supplementation. PMID:23886516
Impact of sequence variation in the UL128 locus on production of human cytomegalovirus in fibroblast and epithelial cells. PMID:23885075
A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient. PMID:23866855
An integrated diagnosis strategy for congenital myopathies. PMID:23826317
Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy. PMID:23805838
Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents. PMID:23776365
Mutational screening of Indian families with hereditary congenital cataract. PMID:23734083
U1snRNP-mediated suppression of polyadenylation in conjunction with the RNA structure controls poly (A) site selection in foamy viruses. PMID:23718736
Motifs within the CA-repeat-rich region of Surfactant Protein B (SFTPB) intron 4 differentially affect mRNA splicing. PMID:23687636
Candidate gene association studies: a comprehensive guide to useful in silico tools. PMID:23656885
Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III. PMID:23649758
A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family. PMID:23599695
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). PMID:23595882
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions. PMID:23595507
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. PMID:23536893
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. PMID:23535731
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder. PMID:23514105
Interpretation, stratification and evidence for sequence variants affecting mRNA splicing in complete human genome sequences. PMID:23499923
FAM20A mutations can cause enamel-renal syndrome (ERS). PMID:23468644
Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations. PMID:23451180
STAT2 deficiency and susceptibility to viral illness in humans. PMID:23391734
Multiple tandem splicing silencer elements suppress aberrant splicing within the long exon 26 of the human Apolipoprotein B gene. PMID:23391187
Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer. PMID:23372765
Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period. PMID:23343000
Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism. PMID:23341491
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. PMID:23334463
Exon skipping of hepatic APOB pre-mRNA with splice-switching oligonucleotides reduces LDL cholesterol in vivo. PMID:23319054
Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome. PMID:23300646
A genome-scale RNA interference screen implicates NF1 loss in resistance to RAF inhibition. PMID:23288408
Association of mitochondrial DNA polymerase γ gene POLG1 polymorphisms with parkinsonism in Chinese populations. PMID:23251356
Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction. PMID:23239986
An exon splice enhancer primes IGF2:IGF2R binding site structure and function evolution. PMID:23197533
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals. PMID:23169495
New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics. PMID:23152584
A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. PMID:23108138
Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy. PMID:23105115
TARDBP mutations are not a frequent cause of ALS in Finnish patients. PMID:23097605
Intron definition and a branch site adenosine at nt 385 control RNA splicing of HPV16 E6*I and E7 expression. PMID:23056301
De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. PMID:23042115
Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population. PMID:23021409
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. PMID:22981119
Novel sequence variants and common recurrent polymorphisms of BRCA2 in Sri Lankan breast cancer patients and a family with BRCA1 mutations. PMID:22977638
Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database. PMID:22968136
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. PMID:22968130
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. PMID:22949379
Hydrogen peroxide alters splicing of soluble guanylyl cyclase and selectively modulates expression of splicing regulators in human cancer cells. PMID:22911749
THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. PMID:22903657
Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis. PMID:22892532
Bodywide skipping of exons 45-55 in dystrophic mdx52 mice by systemic antisense delivery. PMID:22869723
Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome. PMID:22855652
Genetic polymorphisms located in genes related to immune and inflammatory processes are associated with end-stage renal disease: a preliminary study. PMID:22817530
Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone. PMID:22796589
Aberrant splicing caused by a MLH1 splice donor site mutation found in a young Japanese patient with Lynch syndrome. PMID:22766992
The application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genes. PMID:22703186
Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation. PMID:22648184
Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes. PMID:22632462
Cryptic transcripts from a ubiquitous plasmid origin of replication confound tests for cis-regulatory function. PMID:22618870
IL-10R polymorphisms are associated with very-early-onset ulcerative colitis. PMID:22550014
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. PMID:22539336
Next generation sequencing for molecular diagnosis of neuromuscular diseases. PMID:22526018
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene. PMID:22510846
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia. PMID:22509105
Sequence variants and haplotype analysis of cat ERBB2 gene: a survey on spontaneous cat mammary neoplastic and non-neoplastic lesions. PMID:22489125
Deleterious GRM1 mutations in schizophrenia. PMID:22448230
Mutations in CIZ1 cause adult onset primary cervical dystonia. PMID:22447717
Variants of the lamin A/C (LMNA) gene in non-valvular atrial fibrillation patients: a possible pathogenic role of the Thr528Met mutation. PMID:22413764
Deep resequencing unveils genetic architecture of ADIPOQ and identifies a novel low-frequency variant strongly associated with adiponectin variation. PMID:22403302
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. PMID:22383692
mRNA transcript diversity creates new opportunities for pharmacological intervention. PMID:22319206
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. PMID:22319038
Analysis of DNA sequence variants detected by high-throughput sequencing. PMID:22290882
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. PMID:22284827
A novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus. PMID:22262942
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. PMID:22258527
Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype. PMID:22258523
Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele. PMID:22241680
Rare germline mutations in PALB2 and breast cancer risk: a population-based study. PMID:22241545
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. PMID:22236406
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. PMID:22190405
Genome-wide association study identifies PERLD1 as asthma candidate gene. PMID:22188591
RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients. PMID:22174939
SpliceDisease database: linking RNA splicing and disease. PMID:22139928
Characterization of NOL7 gene point mutations, promoter methylation, and protein expression in cervical cancer. PMID:22123719
CHEK2 contribution to hereditary breast cancer in non-BRCA families. PMID:22114986
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. PMID:22073189
Segtor: rapid annotation of genomic coordinates and single nucleotide variations using segment trees. PMID:22069465
Epilepsy caused by an abnormal alternative splicing with dosage effect of the SV2A gene in a chicken model. PMID:22046416
A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier. PMID:22022275
Mutation analysis of the CYP21A2 gene in the Iranian population. PMID:22017335
Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites. PMID:21992029
A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer. PMID:21989022
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. PMID:21972111
Associations between paternally transmitted fetal IGF2 variants and maternal circulating glucose concentrations in pregnancy. PMID:21926269
Germline mutations in RAD51D confer susceptibility to ovarian cancer. PMID:21822267
Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. PMID:21802064
Sequence Analysis of the UCP1 Gene in a Severe Obese Population from Southern Italy. PMID:21773003
Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy. PMID:21769673
A novel point mutation within the EDA gene causes an exon dropping in mature RNA in Holstein Friesian cattle breed affected by X-linked anhidrotic ectodermal dysplasia. PMID:21740563
Molecular design of a splicing switch responsive to the RNA binding protein Tra2β. PMID:21724598
An update on molecular genetics of Alkaptonuria (AKU). PMID:21720873
Characterisation of five candidate genes within the ETEC F4ab/ac candidate region in pigs. PMID:21718470
The kisspeptin signaling pathway and its role in human isolated GnRH deficiency. PMID:21704672
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting. PMID:21704276
Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma. PMID:21654082
A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement. PMID:21611149
Splice isoform-specific suppression of the Cav2.1 variant underlying spinocerebellar ataxia type 6. PMID:21550405
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. PMID:21522182
Splice site mutations in the ATP7A gene. PMID:21494555
Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript. PMID:21465221
Mutations in the TSGA14 gene in families with autism spectrum disorders. PMID:21438139
Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. PMID:21394826
HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. PMID:21380624
Support vector machines-based identification of alternative splicing in Arabidopsis thaliana from whole-genome tiling arrays. PMID:21324185
ANGPT2 genetic variant is associated with trauma-associated acute lung injury and altered plasma angiopoietin-2 isoform ratio. PMID:21257790
Association of retinoic acid receptor genes with meningomyelocele. PMID:21254357
Expanding the phenotype and genotype of female GnRH deficiency. PMID:21209029
A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1. PMID:21203346
Given dimensions of neoplastic events as aberrantly operative alternative splicing. PMID:21151513
Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3' untranslated region. PMID:21139677
A 10 bp deletion polymorphism and 2 new variations in the GLUT1 gene associated with meningomyelocele. PMID:21135204
Cyclin D1 rare variants in UK multiple adenoma and early-onset colorectal cancer patients. PMID:21107342
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population. PMID:21081970
Genome-wide data-mining of candidate human splice translational efficiency polymorphisms (STEPs) and an online database. PMID:20948966
Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families. PMID:20937110
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. PMID:20890278
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. PMID:20890276
Regulation of splicing enhancer activities by RNA secondary structures. PMID:20888818
Antisense PMO found in dystrophic dog model was effective in cells from exon 7-deleted DMD patient. PMID:20805873
p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study. PMID:20717170
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. PMID:20696889
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. PMID:20691405
Transcriptional and translational effects of intronic CAPN3 gene mutations. PMID:20635405
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. PMID:20598277
Targeted genome-wide enrichment of functional regions. PMID:20585402
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity. PMID:20513136
Comprehensive characterization of a novel intronic pseudo-exon inserted within an e14/a2 BCR-ABL rearrangement in a patient with chronic myeloid leukemia. PMID:20508029
Genetic variations regulate alternative splicing in the 5' untranslated regions of the mouse glioma-associated oncogene 1, Gli1. PMID:20433698
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease. PMID:20431954
Analysis of mismatch repair gene mutations in Turkish HNPCC patients. PMID:20373145
Molecular diagnostics for autosomal dominant polycystic kidney disease. PMID:20177400
Therapeutic exon skipping for dysferlinopathies? PMID:20145676
A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma. PMID:20090211
An exon-based comparative variant analysis pipeline to study the scale and role of frameshift and nonsense mutation in the human-chimpanzee divergence. PMID:19859573
The role of exon sequences in C complex spliceosome structure. PMID:19761775
U1 snRNA mis-binding: a new cause of CMT1B. PMID:19475438
UMD (Universal mutation database): a generic software to build and analyze locus-specific databases PubMed citations: 53.

53 articles citing: UMD (Universal mutation database): a generic software to build and analyze locus-specific databases

Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes. PMID:34749799
Germline and Somatic mutations in postmenopausal breast cancer patients. PMID:34287479
Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma. PMID:34277001
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population. PMID:34172528
Knowledge bases and software support for variant interpretation in precision oncology. PMID:33971666
The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD. PMID:33672764
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement. PMID:33059708
MAGPEL: an autoMated pipeline for inferring vAriant-driven Gene PanEls from the full-length biomedical literature. PMID:32703994
Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing. PMID:31285513
CRISPR/Cas9-generated mouse model of Duchenne muscular dystrophy recapitulating a newly identified large 430 kb deletion in the human DMD gene. PMID:31028078
Systematics for types and effects of DNA variations. PMID:30591019
Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes. PMID:29887214
Hereditary breast and ovarian cancer in Andalusian families: a genetic population study. PMID:29884136
Lamins and bone disorders: current understanding and perspectives. PMID:29854317
Somatic mutations in early onset luminal breast cancer. PMID:29854292
A mechanistic evaluation of the Syrian hamster embryo cell transformation assay (pH 6.7) and molecular events leading to senescence bypass in SHE cells. PMID:27169376
Human Variome Project Quality Assessment Criteria for Variation Databases. PMID:26919176
Harmonizing the interpretation of genetic variants across the world: the Malaysian experience. PMID:26915360
Human genotype-phenotype databases: aims, challenges and opportunities. PMID:26553330
Building the foundation for genomics in precision medicine. PMID:26469044
Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis. PMID:26333736
Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PMID:26332594
Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families. PMID:25952756
Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. PMID:25782689
Biological databases for human research. PMID:25712261
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations. PMID:25348012
Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein. PMID:25077178
Inter-ethnic differences in genetic polymorphisms of xenobiotic-metabolizing enzymes (CYP1A1, CYP2D6, NAT1 and NAT2) in healthy populations: correlation with the functional in silico prediction. PMID:24934312
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. PMID:24833718
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. PMID:24501682
Clinical utility of anti-p53 auto-antibody: systematic review and focus on colorectal cancer. PMID:23922463
UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families. PMID:23729658
Proteostasis modulators prolong missense VHL protein activity and halt tumor progression. PMID:23318261
Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma. PMID:23298237
Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis. PMID:22849591
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. PMID:22396310
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. PMID:22144684
Hypoxia and cell cycle regulation of the von Hippel-Lindau tumor suppressor. PMID:20802534
Human variation databases. PMID:20639550
Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma. PMID:20560986
Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype. PMID:20375333
Von hippel-lindau disease. PMID:20223044
COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System. PMID:19958500
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. PMID:19339519
Planning the human variome project: the Spain report. PMID:19306394
Recommendations for locus-specific databases and their curation. PMID:18157828
The molecular genetics of Marfan syndrome and related disorders. PMID:16571647
Prevalence of von Hippel-Lindau gene mutations in sporadic renal cell carcinoma: results from The Netherlands cohort study. PMID:15932632
Ligation of high-melting-temperature 'clamp' sequence extends the scanning range of rare point-mutational analysis by constant denaturant capillary electrophoresis (CDCE) to most of the human genome. PMID:12907749
Marfan syndrome in the third Millennium. PMID:12404097
Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. PMID:12068374
Multi-exon deletions of the FBN1 gene in Marfan syndrome. PMID:11710961
Determining the identifiability of DNA database entries. PMID:11079941
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases PubMed citations: 49.

49 articles citing: Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases

Case Report: Male Lobular Breast Cancer in Hereditary Cancer Syndromes. PMID:35686104
Case Report Series: Aggressive HR Deficient Colorectal Cancers Related to BRCA1 Pathogenic Germline Variants. PMID:35280729
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa. PMID:35216584
Value of the loss of heterozygosity to BRCA1 variant classification. PMID:35039532
Site-Specific DNA Demethylation as a Potential Target for Cancer Epigenetic Therapy. PMID:35036833
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach. PMID:34597585
Somatic and Germline BRCA 1 and 2 Mutations in Advanced NSCLC From the SAFIR02-Lung Trial. PMID:34589950
Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers. PMID:34490083
Identification of BRCA2 Cis Double Heterozygous Breast Cancer Cases Using Whole Exome Sequencing: Phenotypic Expression and Impact on Personalized Oncology. PMID:34456966
Intrinsic Disorder and Phosphorylation in BRCA2 Facilitate Tight Regulation of Multiple Conserved Binding Events. PMID:34356684
Germline and Somatic mutations in postmenopausal breast cancer patients. PMID:34287479
5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints. PMID:34202044
Novel and recurrent BRCA1/BRCA2 germline mutations in patients with breast/ovarian cancer: a series from the south of Tunisia. PMID:33726785
Prevalence and Spectrum of BRCA Germline Variants in Central Italian High Risk or Familial Breast/Ovarian Cancer Patients: A Monocentric Study. PMID:32806537
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System. PMID:32641407
HRness in Breast and Ovarian Cancers. PMID:32481735
Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes. PMID:32380732
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank. PMID:31892343
Targeting epigenetic regulators for cancer therapy: mechanisms and advances in clinical trials. PMID:31871779
Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer. PMID:31125277
Germline Missense Variants in BRCA1: New Trends and Challenges for Clinical Annotation. PMID:31013702
Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition. PMID:30453575
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers. PMID:30430080
Hereditary breast and ovarian cancer in Andalusian families: a genetic population study. PMID:29884136
Somatic mutations in early onset luminal breast cancer. PMID:29854292
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. PMID:29750258
Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer. PMID:29707112
Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices. PMID:29479477
Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories. PMID:28782058
High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast-ovarian cancer prevention and control. PMID:28577564
Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer. PMID:28423363
Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. PMID:28339459
Novel and reported pathogenic variants in exon 11 of BRCA2 gene in a cohort of Sri Lankan young breast cancer patients. PMID:28039656
Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samples. PMID:27793035
Long-Range Signaling in MutS and MSH Homologs via Switching of Dynamic Communication Pathways. PMID:27768684
Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil. PMID:27223485
Structure-activity relationship of the peptide binding-motif mediating the BRCA2:RAD51 protein-protein interaction. PMID:26992456
Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland. PMID:26843898
BRCA Mutations Increase Fertility in Families at Hereditary Breast/Ovarian Cancer Risk. PMID:26047126
Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations. PMID:26028024
High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing. PMID:26014432
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. PMID:25985138
DNA methylation, its mediators and genome integrity. PMID:25892967
Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons. PMID:25382762
Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. PMID:24884479
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. PMID:24549055
Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families. PMID:22923021
A guide for functional analysis of BRCA1 variants of uncertain significance. PMID:22753008
Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon. PMID:22713736
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2 PubMed citations: 35.

35 articles citing: UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2

RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data. PMID:35846154
Novel fibrillin-1 mutation with variable presentation as a thoracic aortic aneurysm and intramural hematoma. PMID:34318135
Changes in the expression levels of elastic fibres in yak lungs at different growth stages. PMID:33879064
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population. PMID:32039725
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis. PMID:31980905
VIPdb, a genetic Variant Impact Predictor Database. PMID:31283070
Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders. PMID:31185693
Dissecting KMT2D missense mutations in Kabuki syndrome patients. PMID:30107592
Functioning Mediastinal Paraganglioma Associated with a Germline Mutation of von Hippel-Lindau Gene. PMID:29789510
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases. PMID:29487416
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility. PMID:29429573
Prediction of a highly deleterious mutation E17K in AKT-1 gene: An in silico approach. PMID:29114575
Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence. PMID:28812538
Implications of SDHB genetic testing in patients with sporadic pheochromocytoma. PMID:28229225
Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases. PMID:27858741
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy. PMID:27858732
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. PMID:27647186
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution. PMID:26842889
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. PMID:25434006
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1. PMID:25370034
Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein. PMID:25077178
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. PMID:25029978
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. PMID:24633898
Deriving a mutation index of carcinogenicity using protein structure and protein interfaces. PMID:24454733
Dispelling myths about rare disease registry system development. PMID:24131574
Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus. PMID:24011989
A MEN1 syndrome with a paraganglioma. PMID:23778871
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). PMID:23756445
UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families. PMID:23729658
Computational methods to work as first-pass filter in deleterious SNP analysis of alkaptonuria. PMID:22606059
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. PMID:22144684
Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach. PMID:21931771
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. PMID:21683322
Novel diagnostic features of dysferlinopathies. PMID:20544924
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. PMID:19002209
UMD (Universal Mutation Database): 2005 update PubMed citations: 32.

32 articles citing: UMD (Universal Mutation Database): 2005 update

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy. PMID:32244403
Severe aortic root dilatation in infantile Marfan syndrome. PMID:31656420
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers. PMID:29641532
eGARD: Extracting associations between genomic anomalies and drug responses from text. PMID:29261751
The current state of clinical interpretation of sequence variants. PMID:28157586
Characterization of new-generation aminoglycoside promoting premature termination codon readthrough in cancer cells. PMID:28145797
Significance of 1B and 2B domains in modulating elastic properties of lamin A. PMID:27301336
DiMeX: A Text Mining System for Mutation-Disease Association Extraction. PMID:27073839
Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy. PMID:27009627
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. PMID:25604253
Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein. PMID:25077178
Inter-ethnic differences in genetic polymorphisms of xenobiotic-metabolizing enzymes (CYP1A1, CYP2D6, NAT1 and NAT2) in healthy populations: correlation with the functional in silico prediction. PMID:24934312
Dispelling myths about rare disease registry system development. PMID:24131574
Towards precision medicine: advances in computational approaches for the analysis of human variants. PMID:23962656
UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families. PMID:23729658
Function of alternative splicing. PMID:22909801
Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database. PMID:22776072
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. PMID:22144684
A survey of APC mutations in Quebec. PMID:21779980
Locus Reference Genomic sequences: an improved basis for describing human DNA variants. PMID:20398331
Analysis of mismatch repair gene mutations in Turkish HNPCC patients. PMID:20373145
Improved mutation tagging with gene identifiers applied to membrane protein stability prediction. PMID:19758467
A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements. PMID:19436330
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. PMID:19339519
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. PMID:19293843
Genetic signature for human risk assessment: lessons from trichloroethylene. PMID:19031419
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. PMID:19002209
VariVis: a visualisation toolkit for variation databases. PMID:18430251
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. PMID:17701892
Large genomic rearrangements in the CFTR gene contribute to CBAVD. PMID:17448246
A multinodular goiter as the initial presentation of a renal cell carcinoma harbouring a novel VHL mutation. PMID:17067398
The molecular genetics of Marfan syndrome and related disorders. PMID:16571647

http://dx.doi.org/10.1093/nar/GKR1160

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cancer
metasource: Fairsharing.org
version: FAIRsharing.org: BRCA Share; BRCA Share; DOI: https://doi.org/10.25504/FAIRsharing.w8wbyj; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

co-expression
metasource: Fairsharing.org
version: FAIRsharing.org: BRCA Share; BRCA Share; DOI: https://doi.org/10.25504/FAIRsharing.w8wbyj; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

disease
metasource: Fairsharing.org
version: FAIRsharing.org: BRCA Share; BRCA Share; DOI: https://doi.org/10.25504/FAIRsharing.w8wbyj; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

mutation analysis
metasource: Fairsharing.org
version: FAIRsharing.org: BRCA Share; BRCA Share; DOI: https://doi.org/10.25504/FAIRsharing.w8wbyj; Last edited: Jan. 8, 2019, 1:15 p.m.; Last accessed: Jan 03 2022 7:09 p.m.

human genes and diseases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

cancer gene databases
metasource: Nucleic Acid Research database catalogue
version: extracted_at: 2022-11-04T11:16:25.468657

genetic variation
metasource: bio.tools
version: extracted_at: 2022-11-04T11:31:39.692695

oncology
metasource: bio.tools
version: extracted_at: 2022-11-04T11:31:39.692695

mapping
metasource: bio.tools
version: extracted_at: 2022-11-04T11:31:39.692695

genetics
metasource: bio.tools
version: extracted_at: 2022-11-04T11:31:39.692695

cancer co-expression disease mutation analysis human genes and diseases cancer-related genes genetic variation oncology mapping genetics

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