Céline Jost

4PUBLICATIONS
132CO-AUTHORS
Molecular targetsNeurology and neuromuscular diseasesNeurogenetics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (4)

|Jul 08, 2026
Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

|Jan 28, 2026
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

Céline Jost, Tiffany Busa, Daniel Wegner

|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

|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

Pageof 1

Frequent Collaborators

4 joint publications

Laurence Faivre

3 joint publications

Frederic Tran-Mau-Them

2 joint publications

Benjamin Cogne

2 joint publications

Amélie Piton