Christel Depienne
36PUBLICATIONS
438CO-AUTHORS

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Publications (36)
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|Apr 08, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.Rocio Rius, Alexander J M Blakes, Yuyang Chen
|Apr 08, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji
|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.Elsa Leitão, Amandine Santini, Benjamin Cogne
|Sep 22, 2025
Progress and challenges in sporadic late-onset cerebellar ataxias.Thomas Wirth, Jennifer Faber, Christel Depienne
|Sep 17, 2025
Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.Jeanne Jury, Thomas Besnard, Wallid Deb
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Frequent Collaborators
12 joint publications
Elsa Leitão
10 joint publications
Caroline Nava
8 joint publications
Salima El Chehadeh
8 joint publications
Benjamin Cogné
7 joint publications
Tobias Haack
7 joint publications
Nicola Whiffin
7 joint publications
Rocio Rius
6 joint publications
Cas Simons
6 joint publications
Yuyang Chen
6 joint publications
Julien Buratti