Catherine Vincent‐Delorme

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

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 220 citations

Life Sciences, Genetics, Molecular Genetics +17

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Victoria Parker, Kim M. Keppler‐Noreuil, Laurence Faivre et al. · Genetics in Medicine · 2018 · 157 citations · Full text

Medicine, Molecular Medicine, Oncology +17

TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons

Xavier Caubit, Paolo Gubellini, Joris Andrieux et al. · Nature Genetics · 2016 · 142 citations · Full text

Life Sciences, Genetics, Neuroscience +13

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Paul Kuentz, Judith St‐Onge, Yannis Duffourd et al. · Genetics in Medicine · 2017 · 140 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16