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