Maryse Bonnière

Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6

Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas et al. · The American Journal of Human Genetics · 2007 · 200 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Stress-induced unfolded protein response contributes to Zika virus–associated microcephaly

Ivan Gladwyn‐Ng, Lluís Cordón-Barris, Christian Alfano et al. · Nature Neuroscience · 2017 · 151 citations · Full text

Life Sciences, Neurobiology, Neuroscience +14

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi et al. · The American Journal of Human Genetics · 2012 · 140 citations · Full text

Life Sciences, Genetics, Neuroscience +10

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

TCTN3 Mutations Cause Mohr-Majewski Syndrome

Sophie Thomas, Marine Legendre, Sophie Saunier et al. · The American Journal of Human Genetics · 2012 · 138 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17