Moez Gribaa

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

Franklin L. Zhong, Ons Mamaï, Lorenzo Sborgi et al. · Cell · 2016 · 422 citations · Full text

Inflammation, Cancer Susceptibility Syndromes, Autoimmune Disease +8

Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

Ahmed Khattab, Shozeb Haider, Ameet Kumar et al. · Proceedings of the National Academy of Sciences · 2017 · 151 citations · Full text

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder

Marie Fernet, Moez Gribaa, Mustafa A. Salih et al. · Human Molecular Genetics · 2004 · 138 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +13

Distinguishing the four genetic causes of jouberts syndrome–related disorders

Enza Maria Valente, Sarah Marsh, Marco Castori et al. · Annals of Neurology · 2005 · 107 citations

Developmental Anomaly, Nphp1 Gene, Developmental Biology +14

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Elizabeth Pöhler, Ons Mamaï, Jennifer Hirst et al. · Nature Genetics · 2012 · 86 citations · Full text

Ophthalmology, Heterogeneous Forms, Punctate Palmoplantar Keratoderma +7