Valérie Malan

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

Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

Jeanne Amiel, Marlène Rio, Loïc de Pontual et al. · The American Journal of Human Genetics · 2007 · 325 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Fetal growth restriction and intra-uterine growth restriction: guidelines for clinical practice from the French College of Gynaecologists and Obstetricians

C. Vayssière, Loı̈c Sentilhes, Anne Ego et al. · European Journal of Obstetrics & Gynecology and Reproductive Biology · 2015 · 247 citations

Medicine, Gynecology, Obstetrics +17

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

David A. Koolen, Jamie M. Kramer, Kornelia Neveling et al. · Nature Genetics · 2012 · 241 citations

Life Sciences, Genetics, Molecular Genetics +13

Disruption of a long distance regulatory region upstream of <i>SOX9</i> in isolated disorders of sex development

Sabina Benko, Christopher T. Gordon, Delphine Mallet et al. · Journal of Medical Genetics · 2011 · 189 citations

Life Sciences, Genetics, Molecular Genetics +17