Manuela Antin

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 · 48 citations

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 · 25 citations · Full text

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

Mireille Cossée, Bénédicte Demeer, Patricia Blanchet et al. · European Journal of Human Genetics · 2006 · 23 citations · Full text

Mendelian Disorder, Psychiatry, Genetic Disorder +10

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in <i>IFT140</i>

Véronique Geoffroy, Corinne Stoetzel, Sophie Scheidecker et al. · Human Mutation · 2018 · 23 citations · Full text

High prevalence of <scp>Bardet‐Biedl</scp> syndrome in <i>La Réunion</i> <scp>Island</scp> is due to a founder variant in <i>ARL6/BBS3</i>

Aurélie Gouronc, Vincent Zilliox, Marie‐Line Jacquemont et al. · Clinical Genetics · 2020 · 18 citations