Marie‐Noëlle Bonnet‐Dupeyron

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

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach

Sandrine M. Caputo, Lisa Golmard, Mélanie Léoné et al. · The American Journal of Human Genetics · 2021 · 30 citations · Full text

Life Sciences, Genetics, Oncology +13

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Thomas Husson, François Lecoquierre, Gaël Nicolas et al. · European Journal of Human Genetics · 2023 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A wave of deep intronic mutations in X-linked Alport syndrome

Marie Boisson, Christelle Arrondel, Nicolas Cagnard et al. · Kidney International · 2023 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Oxidative stress and mitochondrial dynamics malfunction are linked in <scp>P</scp>elizaeus‐<scp>M</scp>erzbacher disease

Montserrat Ruíz, Mélina Bégou, Nathalie Launay et al. · Brain Pathology · 2017 · 25 citations · Full text

Life Sciences, Neurology, Neuroscience +17