Stéphanie Arpin

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 · 133 citations · Full text

Molecular Diagnosis, Genetic Testing, Mendelian Disorder +9

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

Camille Leroy, Emilie Landais, Sylvain Briault et al. · European Journal of Human Genetics · 2012 · 131 citations · Full text

Clinical Disorders, New Patients, Genetic Disorder +4

Delineating <i>FOXG1</i> syndrome

Nancy Végas, Mara Cavallin, Camille Maillard et al. · Neurology Genetics · 2018 · 75 citations · Full text

Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update

Pascaline Létard, Séverine Drunat, Yoann Vial et al. · Human Mutation · 2017 · 69 citations · Full text

Developmental Anomaly, Developmental Biology, Surface Area +13

DLG4-related synaptopathy: a new rare brain disorder

Agustí Rodríguez‐Palmero, Melissa M. Boerrigter, David Gómez‐Andrés et al. · Genetics in Medicine · 2021 · 48 citations · Full text

Molecular Neuroscience, Corticobasal Degeneration, Neurological Disorder +8