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Nature Genetics|February 19, 2003
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiencyStéphanie Dupuis, Emmanuelle Jouanguy, Sami Al-Hajjar, et al.Plos Genetics|August 29, 2006
Novel STAT1 alleles in otherwise healthy patients with mycobacterial diseaseAriane Chapgier, Stéphanie Boisson-Dupuis, Emmanuelle Jouanguy, et al.Human Molecular Genetics|November 20, 2012
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial diseaseXiao-Fei Kong, Guillaume Vogt, Yuval Itan, et al.Journal of Medical Genetics|January 8, 2015
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypesAoife M Waters, Rowan Asfahani, Paula Carroll, et al.Nature Immunology|February 1, 2011
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial diseaseJacinta Bustamante, Andres A Arias, Guillaume Vogt, et al.Science (New York, N.Y.)|September 18, 2007
TLR3 deficiency in patients with herpes simplex encephalitisShen-Ying Zhang, Emmanuelle Jouanguy, Sophie Ugolini, et al.Cell|March 10, 2010
Distinct factors control histone variant H3.3 localization at specific genomic regionsAaron D Goldberg, Laura A Banaszynski, Kyung-Min Noh, et al.Human Molecular Genetics|January 27, 2011
Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindredsIthaisa Sologuren, Stéphanie Boisson-Dupuis, Jose Pestano, et al.Nature Genetics|June 1, 2005
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutationsGuillaume Vogt, Ariane Chapgier, Kun Yang, et al.The Journal of Experimental Medicine|July 5, 2006
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 productionOrchidée Filipe-Santos, Jacinta Bustamante, Margje H Haverkamp, et al.Pageof 4