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 · 221 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 201 citations · Full text

Life Sciences, Developmental Biology, Molecular Biology +14

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 · 183 citations · Full text

Life Sciences, Developmental Biology, Genetics +15

Delineation of 15q13.3 microdeletions

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

Life Sciences, Genetics, Molecular Genetics +15

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 · 119 citations · Full text

Life Sciences, Genetics, Hematology +14