P

Researcher Profile

Pascal Chambon

2

Publications

62

Citations

10

Co-Authors

1

Active Years

Publications

Open Access Journal Article Nature Genetics May 16, 2025

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava · Benjamin Cogné · Amandine Santini · Elsa Leitão +260 more

10.1038/s41588-025-02184-4 30 citations

Open Access Journal Article The Lancet Regional Health - Europe Mar 01, 2025

PFMG2025–integrating genomic medicine into the national healthcare system in France

Caroline Abadie · Aldja Abderrahmane · Ouarda Abdous · Carine Abel +1086 more

10.1016/j.lanepe.2024.101183 32 citations

Publication Timeline

2025

2

Frequent Co-Authors

Fanny Laffargue

Charles Coutton

Stéphane Bézieau

Daphné Lehalle