Gene hunting in the genomic era: Approaches to diagnostic dilemmas in patients with primary immunodeficiencies
- 7 October 2013
- journal article
- review article
- Published by Elsevier BV in Journal of Allergy and Clinical Immunology
- Vol. 134 (2), 262-268
- https://doi.org/10.1016/j.jaci.2013.08.021
Abstract
No abstract availableKeywords
This publication has 78 references indexed in Scilit:
- Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferationJournal of Allergy and Clinical Immunology, 2013
- Genomic modulators of the immune responseTrends in Genetics, 2013
- Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and AutoimmunityAmerican Journal of Human Genetics, 2012
- Congenital Asplenia in Mice and Humans with Mutations in a Pbx/Nkx2-5/p15 ModuleDevelopmental Cell, 2012
- Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic ResearchAmerican Journal of Human Genetics, 2011
- Integrating common and rare genetic variation in diverse human populationsNature, 2010
- Immune deficiency caused by impaired expression of nuclear factor-κB essential modifier (NEMO) because of a mutation in the 5′ untranslated region of the NEMO geneJournal of Allergy and Clinical Immunology, 2010
- Targeted capture and massively parallel sequencing of 12 human exomesNature, 2009
- Missed threadsEMBO Reports, 2009
- The actin regulator coronin 1A is mutant in a thymic egress–deficient mouse strain and in a patient with severe combined immunodeficiencyNature Immunology, 2008