Concepedia
Statistics
Publications
9
Citations
194
H-Index
Active since
2020
Affiliations
Inserm(Current)
Hôpital Purpan
Centre National de la Recherche Scientifique
Université Paris Cité
Institut des Maladies Génétiques Imagine
Marion Aubert‐Mucca is an author at Inserm specializing in human genetics, genetics, and medical genetics.
Publications per year
2020–2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Caroline Nava, Benjamin Cogné, Elsa Leitão et al. · Nature Genetics · 2025 · 42 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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 · 27 citations · Full text
Medicine, Genetics, Molecular Genetics +16
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 · 21 citations · Full text
<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 · 20 citations · Full text
Medicine, Genetics, Molecular Genetics +17
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals
Marion Aubert‐Mucca, Céline Huber, Geneviève Baujat et al. · Journal of Medical Genetics · 2022 · 19 citations
Life Sciences, Genetics, Molecular Genetics +10
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