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Christel Depienne

36PUBLICATIONS
438CO-AUTHORS
Genome structure and regulationNeurogeneticsCell and nuclear divisionNeurology and neuromuscular diseasesEpidemiology not elsewhere classified
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Journal

Publications (36)

Sort by Publication Date:
|Jun 26, 2026
RBMX functional retrocopy safeguards brain development in a species-dependent context.

|May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

|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

|Feb 10, 2026
No role of intronic expansions in HSF1 for essential tremor in Europe.

Jean-Loup Méreaux, Thomas Wirth, Claire-Sophie Davoine

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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

Frequent Collaborators

12 joint publications

Elsa Leitão

10 joint publications

Caroline Nava

8 joint publications

Salima El Chehadeh

8 joint publications

Benjamin Cogné