Jean‐Louis Bonafé

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

Stéphane Chavanas, Christine Bodemer, Ariane Rochat et al. · Nature Genetics · 2000 · 845 citations

Life Sciences, Genetics, Molecular Genetics +7

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Corine Bertolotto, Fabienne Lesueur, Sandy Giuliano et al. · Nature · 2011 · 522 citations

Medicine, Genetics, Oncology +14

Localization of the Netherton Syndrome Gene to Chromosome 5q32, by Linkage Analysis and Homozygosity Mapping

Stéphane Chavanas, Chad Garner, Christine Bodemer et al. · The American Journal of Human Genetics · 2000 · 131 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The Gene for Bazex-Dupré-Christol Syndrome Maps to Chromosome Xq

P. Vabres, Didier Lacombe, Linda G. Rabinowitz et al. · Journal of Investigative Dermatology · 1995 · 92 citations

Life Sciences, Genetics, Molecular Genetics +9

Novel ABCC6 Mutations in Pseudoxanthoma Elasticum

Nicolas Chassaing, Ludovic Martin, Laurence Barrié et al. · Journal of Investigative Dermatology · 2004 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +3