Florence Petit

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

Mustapha Amyere, Nicole Revençu, Raphaël Helaers et al. · Circulation · 2017 · 282 citations · Full text

Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants

Evgeny Z. Kvon, Yiwen Zhu, Guy Kelman et al. · Cell · 2020 · 182 citations · Full text

Human Enhancer Variants, Genetics, Human Polymorphism +4

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Justyna A. Karolak, Marie Vincent, Gail Deutsch et al. · The American Journal of Human Genetics · 2019 · 162 citations · Full text

Developmental Biology, Pulmonary Pathology, Medicine +7

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene et al. · Human Mutation · 2012 · 135 citations · Full text

Peripheral Neuropathy, Mendelian Disorder, Autoimmune Disease +15