Elsa Nourisson

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

Cyril Mignot, Emmanuelle Apartis, Alexandra Dürr et al. · Orphanet Journal of Rare Diseases · 2013 · 74 citations · Full text

Life Sciences, Genetics, Neurology +16

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

Laura Mary, Kirsley Chennen, Corinne Stoetzel et al. · Clinical Genetics · 2019 · 50 citations

Life Sciences, Genetics, Molecular Genetics +17

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

Laura Mary, Amélie Piton, Élise Schaefer et al. · European Journal of Human Genetics · 2018 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A <scp> <i>BBS1</i> SVA </scp> F retrotransposon insertion is a frequent cause of <scp>Bardet‐Biedl</scp> syndrome

Clarisse Delvallée, Samuel Nicaise, Manuela Antin et al. · Clinical Genetics · 2020 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Pathogenic variants in <scp><i>KCNQ2</i></scp> cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy

Laura Mary, Elsa Nourisson, Claire Feger et al. · American Journal of Medical Genetics Part A · 2021 · 19 citations

Life Sciences, Genetics, Molecular Genetics +17