Séverine Drunat

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 480 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Update on Kleefstra Syndrome

Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen et al. · Molecular Syndromology · 2011 · 179 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon et al. · European Journal of Human Genetics · 2014 · 174 citations · Full text

Medicine, Neurology, Neuropathology +2

Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases

Essam Al Ageeli, Séverine Drunat, Catherine Delanöe et al. · European Journal of Medical Genetics · 2013 · 134 citations

Life Sciences, Genetics, Molecular Genetics +16

Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family

Sophie Valleix, Séverine Drunat, Jean-Baptiste Philit et al. · Kidney International · 2002 · 127 citations · Full text

Medicine, Genetics, Nephrology +16