Thomas Besnard

7PUBLICATIONS
238CO-AUTHORS
Genome structure and regulationNeurology and neuromuscular diseasesNeurogeneticsInfant and child healthDevelopmental genetics (incl. sex determination)
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Publications (7)

|Sep 16, 2026
De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.

|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|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

|Dec 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Wallid Deb, Thomas Besnard, Florence Desprez

|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske van Woerden

|May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Frédéric Ebstein, Sébastien Küry, Victoria Most

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Frequent Collaborators

6 joint publications

Stéphane Bézieau

5 joint publications

Sébastien Küry

4 joint publications

Wallid Deb

4 joint publications

Benjamin Cogné