Marion Aubert‐Mucca

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

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

Clara Velmans, Anne O’Donnell‐Luria, Emanuela Argilli et al. · Journal of Medical Genetics · 2021 · 20 citations · Full text

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

Marion Aubert‐Mucca, Julie Pernin-Grandjean, Sébastien Marchasson et al. · European Journal of Human Genetics · 2020 · 18 citations · Full text

Ocular Disease, Ophthalmology, Pathology +5

<i>WNT11,</i> a new gene associated with early onset osteoporosis, is required for osteoblastogenesis

Caroline Caetano da Silva, Thomas Édouard, Mélanie Fradin et al. · Human Molecular Genetics · 2021 · 18 citations · Full text

Early Onset Osteoporosis, Bone Fragility, Genetics +23