Benjamin Cogné

33PUBLICATIONS
445CO-AUTHORS
NeurogeneticsPredictive and prognostic markersCell and nuclear divisionNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)
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Publications (33)

|Oct 10, 2026
A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome.

|Jun 12, 2026
A progeria syndrome links DNA hypermethylation to age-related pathology.

|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

|Jan 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer

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Frequent Collaborators

8 joint publications

Christel Depienne

7 joint publications

Anne-Sophie Denommé-Pichon

7 joint publications

Stéphane Bézieau

7 joint publications

Salima El Chehadeh