Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
Open Access
- 15 July 2016
- journal article
- Published by Elsevier BV in Journal of Allergy and Clinical Immunology
- Vol. 139 (1), 232-245
- https://doi.org/10.1016/j.jaci.2016.05.042
Abstract
No abstract availableKeywords
This publication has 88 references indexed in Scilit:
- Genome-wide association study identifies three new melanoma susceptibility lociNature Genetics, 2011
- Clan Genomics and the Complex Architecture of Human DiseaseCell, 2011
- Genome-wide association identifies diverse causes of common variable immunodeficiencyJournal of Allergy and Clinical Immunology, 2011
- Early vs. delayed diagnosis of severe combined immunodeficiency: A family perspective surveyClinical Immunology, 2011
- The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formationNature Genetics, 2010
- Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesisCurrent Opinion in Rheumatology, 2010
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth NeuropathyNew England Journal of Medicine, 2010
- Detection of nonneutral substitution rates on mammalian phylogeniesGenome Research, 2009
- Identification of deleterious mutations within three human genomesGenome Research, 2009
- An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor AntagonistNew England Journal of Medicine, 2009