Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies
Open Access
- 13 October 2014
- journal article
- Published by Rockefeller University Press in The Journal of Experimental Medicine
- Vol. 211 (11), 2137-2149
- https://doi.org/10.1084/jem.20140520
Abstract
Casanova and colleagues discuss the importance of single-patient genetic studies in the discovery of novel primary immunodeficiencies and offer insight into the standards and criteria that should accompany these studies.This publication has 104 references indexed in Scilit:
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited diseaseHuman Genetics, 2013
- An integrated map of genetic variation from 1,092 human genomesNature, 2012
- Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cellsNature, 2012
- Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the ikaros genePediatric Blood & Cancer, 2011
- Human TRAF3 Adaptor Molecule Deficiency Leads to Impaired Toll-like Receptor 3 Response and Susceptibility to Herpes Simplex EncephalitisImmunity, 2010
- Integrating common and rare genetic variation in diverse human populationsNature, 2010
- Exome sequencing identifies the cause of a mendelian disorderNature Genetics, 2009
- Targeted capture and massively parallel sequencing of 12 human exomesNature, 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
- Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined FactorsCell, 2007