Clotilde Penet

Germline BAP1 Mutations Predispose to Renal Cell Carcinomas

Tatiana Popova, Lucie Hebert, Virginie Jacquemin et al. · The American Journal of Human Genetics · 2013 · 276 citations · Full text

Medicine, Molecular Biology, Oncology +14

Germline <i><scp>BAP1</scp></i> mutations predispose also to multiple basal cell carcinomas

Arnaud de la Fouchardière, Odile Cabaret, Leonid T. Savin et al. · Clinical Genetics · 2014 · 98 citations

Medicine, Dermatology, Oncology +17

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2

Alexandra Dürr, C.-S. Davoine, Caroline Paternotte et al. · Brain · 1996 · 88 citations · Full text

Life Sciences, Genetics, Neurology +13

The photoreceptor cell-specific nuclear receptor gene ( PNR ) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition

S. Gerber, Jean‐Michel Rozet, Shinichiro Takezawa et al. · Human Genetics · 2000 · 87 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing

Elodie Girard, Séverine Eon‐Marchais, Robert Olaso et al. · International Journal of Cancer · 2018 · 79 citations · Full text

Life Sciences, Genetics, Oncology +17