Concepedia
Statistics
Publications
3
Citations
72
H-Index
Active since
2021
Affiliations
Inserm(Current)
Centre National de la Recherche Scientifique
Laboratoire de Génétique Cellulaire
Institut de génétique et de développement de Rennes
Hôpitaux Universitaires de Strasbourg
Auriane Cospain is an author at Inserm specializing in genetic disorders, genetics, and human genetics.
Publications per year
2021–2025
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
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
Auriane Cospain, Ana Rivera‐Barahona, Erwan Dumontet et al. · Genetics in Medicine · 2022 · 17 citations · Full text
Life Sciences, Craniofacial Biology, Genetics +16
<scp>Skraban‐Deardorff</scp> syndrome: Six new cases of <scp> <i>WDR</i> 26 </scp> ‐related disease and expansion of the clinical phenotype
Auriane Cospain, Élise Schaefer, Marie Faoucher et al. · Clinical Genetics · 2021 · 13 citations
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