Julia Métreau

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

Pascaline Létard, Séverine Drunat, Yoann Vial et al. · Human Mutation · 2017 · 70 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases

Chloé Di Meglio, Gaëtan Lesca, Nathalie Villeneuve et al. · Epilepsia · 2015 · 65 citations · Full text

Medicine, Genetics, Molecular Genetics +17

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot, Aoife McMahon, Claire Bar et al. · Genetics in Medicine · 2018 · 62 citations · Full text

Medicine, Genetics, Neurology +17

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

Diane Doummar, Christel Dentel, Romane Lyautey et al. · European Journal of Human Genetics · 2020 · 42 citations · Full text

Life Sciences, Neurology, Neuroscience +3

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jérémie Courraud, Eric Chater‐Diehl, Benjamin Durand et al. · Genetics in Medicine · 2021 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15