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Thomas Besnard

6PUBLICATIONS
235CO-AUTHORS
Neurology and neuromuscular diseasesNeurogeneticsInfant and child healthDevelopmental genetics (incl. sex determination)
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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 <i>PCBP1</i> CAUSE A NEURODEVELOPMENTAL DISORDER.

Wallid Deb, Thomas Besnard, Florence Desprez

|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> 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

Frequent Collaborators

5 joint publications

Stéphane Bézieau

4 joint publications

Benjamin Cogné

4 joint publications

Sébastien Küry

3 joint publications

Wallid Deb

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