Marie‐Pierre Cordier

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 the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Carine Le Goff, Clémentine Mahaut, Lauren W. Wang et al. · The American Journal of Human Genetics · 2011 · 233 citations · Full text

Life Sciences, Genetics, Molecular Biology +7

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

Caroline Schluth‐Bolard, Bruno Delobel, Damien Sanlaville et al. · European Journal of Medical Genetics · 2009 · 173 citations

Life Sciences, Genetics, Molecular Genetics +17

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations

Caroline Schluth‐Bolard, Audrey Labalme, Marie‐Pierre Cordier et al. · Journal of Medical Genetics · 2013 · 115 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

Lara De Tomasi, Pierre David, Camille Humbert et al. · The American Journal of Human Genetics · 2017 · 114 citations · Full text

Medicine, Genetics, Molecular Genetics +12