Pauline Planté-Bordeneuve
2PUBLICATIONS
40CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (2)
Sort by Publication Date:
|Apr 05, 2026
Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencing.Jade Fauqueux, Roseline Caumes, Cindy Colson
|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
Pageof 1
Frequent Collaborators
1 joint publications
Changlian Zhu
1 joint publications
Tony Roscioli
1 joint publications
Frederic Tran-Mau-Them
1 joint publications
Laurence Faivre
1 joint publications
Julien Maraval
1 joint publications
Anne-Sophie Denommé-Pichon
1 joint publications
Antonio Vitobello
1 joint publications
Céline Jost
1 joint publications
Claudia Gonzaga-Jauregui
1 joint publications
Michael C Kruer
