A. David

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 of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

Michel Longy, Vincent Coulon, B. Duboué et al. · Journal of Medical Genetics · 1998 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

Céline Bonnet, Joris Andrieux, Mylène Béri‐Dexheimer et al. · Journal of Medical Genetics · 2010 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

Patrick Edery, Anna Pelet, Lois M. Mulligan et al. · Journal of Medical Genetics · 1994 · 63 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

A-M Molin, Joris Andrieux, David A. Koolen et al. · Journal of Medical Genetics · 2011 · 57 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17