Anne-Sophie Denommé-Pichon

53PUBLICATIONS
514CO-AUTHORS
Neurology and neuromuscular diseasesGenome structure and regulationNeurogeneticsElectrical energy transmission, networks and systemsGene expression (incl. microarray and other genome-wide approaches)
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Publications (53)

|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

|Mar 11, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Philip M Boone, Serkan Erdin, Abucar Mohamed

|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

|Oct 08, 2025
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.

Saikat Ghosh, Jaskaran Singh, Nadirah S Damseh

|Sep 22, 2025
Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

Marlène Malbos, Thierry Gautier, Amelle Shillington

|Sep 19, 2025
Systematic Genetic Assessment in Young Patients With Cryptogenic Stroke: The ES-EASY project.

Loraine Mania-Pâris, Antonio Vitobello, Hana Safraou

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Frequent Collaborators

26 joint publications

Antonio Vitobello

17 joint publications

Ange-Line Bruel

15 joint publications

Laurence Faivre

15 joint publications

Frédéric Tran-Mau-Them