Christèle Dubourg

8PUBLICATIONS
282CO-AUTHORS
Neurology and neuromuscular diseasesGene and molecular therapyQuaternary environmentsDevelopmental genetics (incl. sex determination)Neurogenetics
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Publications (8)

|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

|Oct 01, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

Liselot van der Laan, Karim Karimi, Kathleen Rooney

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

|Mar 05, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

Clara Houdayer, Kathleen Rooney, Liselot van der Laan

|Apr 09, 2024
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.

Johannes Kopp, Leonard A Koch, Hristiana Lyubenova

|Oct 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Thomas Husson, François Lecoquierre, Gaël Nicolas

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Frequent Collaborators

5 joint publications

Anne-Sophie Denommé-Pichon

4 joint publications

Benjamin Cogné

4 joint publications

Mélanie Fradin

4 joint publications

Frédéric Tran Mau-Them