Antonio Vitobello
58PUBLICATIONS
556CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (58)
Sort by Publication Date:
|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
|Jan 06, 2026
Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.Vicente A Yépez, German Demidov, Kornelia Ellwanger
|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.Sébastien Küry, Janelle E Stanton, Geeske M van Woerden
|Nov 25, 2025
Identification of an episignature for the MEF2C-associated syndrome.Ananília Silva, Sadegheh Haghshenas, Liselot van der Laan
Pageof 10
Frequent Collaborators
26 joint publications
Anne-Sophie Denommé-Pichon
18 joint publications
Ange-Line Bruel
16 joint publications
Laurence Faivre
16 joint publications
Christophe Philippe
15 joint publications
Frédéric Tran-Mau-Them
11 joint publications
Christel Thauvin-Robinet
10 joint publications
Sophie Nambot
9 joint publications
Arthur Sorlin
9 joint publications
Alain Verloes
8 joint publications
Sébastien Moutton