Aziz Belkadi

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

Aziz Belkadi, Alexandre Bolze, Yuval Itan et al. · Proceedings of the National Academy of Sciences · 2015 · 620 citations · Full text

Wes Capture, Wes Regions, Genetics +17

Impairment of immunity to <i>Candida</i> and <i>Mycobacterium</i> in humans with bi-allelic <i>RORC</i> mutations

Satoshi Okada, Janet Markle, Elissa K. Deenick et al. · Science · 2015 · 410 citations · Full text

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Eric Scott, Anason Halees, Yuval Itan et al. · Nature Genetics · 2016 · 382 citations · Full text

Genome-wide Association Study, Genetic Analysis, Medicine +8

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

Bertrand Boisson, Emmanuel Laplantine, Kerry Dobbs et al. · The Journal of Experimental Medicine · 2015 · 289 citations · Full text

An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis

Bertrand Boisson, Chenhui Wang, Vincent Pedergnana et al. · Immunity · 2013 · 282 citations · Full text

Inflammation, Allergy, Pathogenesis +6