Audrey Remenieras

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

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

Claude Houdayer, Virginie Caux‐Moncoutier, Sophie Krieger et al. · Human Mutation · 2012 · 240 citations

Life Sciences, Genetics, Molecular Genetics +17

High Frequency of <i>TP53</i> Mutation in <i>BRCA1</i> and Sporadic Basal-like Carcinomas but not in <i>BRCA1</i> Luminal Breast Tumors

Élodie Manié, Anne Vincent‐Salomon, Jacqueline Lehmann‐Che et al. · Cancer Research · 2009 · 153 citations · Full text

Medicine, Genetics, Oncology +13

Novel <i>FH</i> mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

Betty Gardie, Audrey Remenieras, Darouna Kattygnarath et al. · Journal of Medical Genetics · 2011 · 142 citations · Full text

Medicine, Genetics, Molecular Genetics +17

High Frequency of Germline <i>SUFU</i> Mutations in Children With Desmoplastic/Nodular Medulloblastoma Younger Than 3 Years of Age

Laurence Brugières, Audrey Remenieras, Gaëlle Pierron et al. · Journal of Clinical Oncology · 2012 · 118 citations · Full text

Life Sciences, Genetics, Oncology +17