Simon Boussion

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of <i>RBM8A</i>

Simon Boussion, Fabienne Escande, Anne‐Sophie Jourdain et al. · Human Mutation · 2020 · 29 citations

Engineering, Genetics, Genetic Epidemiology +18

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, A. Santini et al. · Nature Genetics · 2025 · 26 citations · Full text

First evidence of <scp> <i>SOX2</i> </scp> mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

Bertrand Chesneau, Marion Aubert‐Mucca, Felix Frémont et al. · Clinical Genetics · 2022 · 25 citations · Full text

Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

Anne‐Sophie Jourdain, Florence Petit, Marie‐Françoise Odou et al. · Human Mutation · 2019 · 24 citations · Full text

Genetics, Genetic Epidemiology, High Throughput +20