Muriel Holder‐Espinasse

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Robin Walters, Sébastien Jacquemont, Armand Valsesia et al. · Nature · 2010 · 560 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Sabina Benko, Judy Fantes, Jeanne Amiel et al. · Nature Genetics · 2009 · 436 citations

Life Sciences, Genetics, Molecular Genetics +10

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Michael A. Simpson, Melita Irving, Esra Asilmaz et al. · Nature Genetics · 2011 · 308 citations

Medicine, Genetics, Molecular Genetics +13

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

Wendy D. Jones, Dimitra Dafou, Meriel McEntagart et al. · The American Journal of Human Genetics · 2012 · 282 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

<i>MEF2C</i> haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard et al. · Journal of Medical Genetics · 2009 · 224 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10