Antonio Vitobello

58PUBLICATIONS
556CO-AUTHORS
Epidemiological modellingGenome structure and regulationNeurogeneticsNeurology and neuromuscular diseasesGene and molecular therapy
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Publications (58)

|Jul 01, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

|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

|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

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

Saikat Ghosh, Jaskaran Singh, Nadirah S Damseh

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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