L. Boussofara

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

Deep Dermatophytosis and Inherited CARD9 Deficiency

Fanny Lanternier, Saad Pathan, Quentin B. Vincent et al. · New England Journal of Medicine · 2013 · 393 citations · Full text

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

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

Aziz Belkadi, Vincent Pedergnana, Aurélie Cobat et al. · Proceedings of the National Academy of Sciences · 2016 · 71 citations · Full text

Genetics, Linkage Analysis, Genomics +24

ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis

Marwa Chourabi, Mei Shan Liew, Shawn Lim et al. · Journal of Investigative Dermatology · 2017 · 29 citations