Betty Gardie

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

An Antioxidant Response Phenotype Shared between Hereditary and Sporadic Type 2 Papillary Renal Cell Carcinoma

Aikseng Ooi, Jing-Chii Wong, David Petillo et al. · Cancer Cell · 2011 · 401 citations · Full text

Medicine, Genetics, Oncology +16

<i>PHD2</i> Mutation and Congenital Erythrocytosis with Paraganglioma

Charline Ladroue, Romain Carcenac, M Leporrier et al. · New England Journal of Medicine · 2008 · 319 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French <i><scp>FH</scp></i> mutation carriers

Marie Müller, Sophie Ferlicot, Marine Guillaud‐Bataille et al. · Clinical Genetics · 2017 · 144 citations

Medicine, Molecular Genetics, Pathology +17

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