Sophie Julia

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Marie Vincent, David Geneviève, Agnès Ostertag et al. · Genetics in Medicine · 2015 · 159 citations

Large Series, Collins Syndrome, Molecular Study +1

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

Association of external auditory canal atresia, vertical talus, and hypertelorism: Confirmation of rasmussen syndrome

Sophie Julia, Jean Michel Pedespan, P Boudard et al. · American Journal of Medical Genetics · 2002 · 19 citations