Anne‐Sophie Leuvrey

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

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

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation

Laura Mauring, Louise F. Porter, Valérie Pelletier et al. · Frontiers in Genetics · 2020 · 11 citations · Full text