Claire Bénéteau

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo, Matthew Jensen, Andrew Polyak et al. · Genetics in Medicine · 2018 · 218 citations · Full text

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

Emmanuelle Szenker‐Ravi, Umut Altunoğlu, Marc Leushacke et al. · Nature · 2018 · 190 citations

Signal Transduction, Molecular Physiology, Developmental Biology +6

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

Delineation of 15q13.3 microdeletions

Alice Masurel‐Paulet, Joris Andrieux, Patrick Callier et al. · Clinical Genetics · 2010 · 150 citations

Psychiatry, Scientific Data Management, Cosmology +12

Clinical and biological features in <i>PIEZO1</i>-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients

Véronique Picard, Corinne Guitton, Isabelle Thuret et al. · Haematologica · 2019 · 113 citations · Full text