Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies. 
 PMID:31203817
                                    
                                
                                    Primary Immunodeficiency Disorders Among North Indian Children. 
 PMID:31177511
                                    
                                
                                    Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. 
 PMID:28875981
                                    
                                
                                    Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions. 
 PMID:26993986
                                    
                                
                                    Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R. 
 PMID:25769540
                                    
                                
                                    Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. 
 PMID:25073507
                                    
                                
                                    Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. 
 PMID:25046553
                                    
                                
                                    PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. 
 PMID:24931394
                                    
                                
                                    Primary Immune Deficiency Treatment Consortium (PIDTC) report. 
 PMID:24139498
                                    
                                
                                    The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years' activity 2008-2012. 
 PMID:23841717
                                    
                                
                                    A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. 
 PMID:23342054
                                    
                                
                                    The RIKEN integrated database of mammals. 
 PMID:21076152
                                    
                                
                                    Human protein reference database and human proteinpedia as discovery resources for molecular biotechnology. 
 PMID:20927658
                                    
                                
                                    Mutation@A Glance: an integrative web application for analysing mutations from human genetic diseases. 
 PMID:20360267
                                    
                                
                                    Prediction of candidate primary immunodeficiency disease genes using a support vector machine learning approach. 
 PMID:19801557
                                    
                                
                                    Common variable immunodeficiency: etiological and treatment issues. 
 PMID:19571563