Thomas Besnard
6PUBLICATIONS
235CO-AUTHORS
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Publications (6)
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|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
|Feb 18, 2021
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.Leïla Ghesh, Thomas Besnard, Mathilde Nizon
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Frequent Collaborators
5 joint publications
Stéphane Bézieau
4 joint publications
Benjamin Cogné
4 joint publications
Sébastien Küry
3 joint publications
Wallid Deb
3 joint publications
Frédéric Ebstein
3 joint publications
Arnaud Droit
3 joint publications
Frédéric Laumonnier
2 joint publications
Richard Golnik
2 joint publications
Victoria Most
2 joint publications
Geeske van Woerden
