Sophie Coutant

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

Cyril Pottier, Didier Hannequin, Sophie Coutant et al. · Molecular Psychiatry · 2012 · 318 citations

Life Sciences, Genetics, Neurology +15

Mutation of the <i>PDGFRB</i> gene as a cause of idiopathic basal ganglia calcification

Gaël Nicolas, Cyril Pottier, David Maltête et al. · Neurology · 2012 · 277 citations

Life Sciences, Genetics, Molecular Genetics +17

Contribution of de novo and mosaic <i>TP53</i> mutations to Li-Fraumeni syndrome

Mariette Renaux‐Petel, Françoise Charbonnier, Jean‐Christophe Théry et al. · Journal of Medical Genetics · 2017 · 118 citations

Life Sciences, Genetics, Oncology +17

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease

Anne Rovelet‐Lecrux, Camille Charbonnier, David Wallon et al. · Molecular Psychiatry · 2015 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons

Gaël Nicolas, David Wallon, Camille Charbonnier et al. · European Journal of Human Genetics · 2015 · 97 citations · Full text

Life Sciences, Genetics, Neurology +16