Stéphane Bézieau

26PUBLICATIONS
703CO-AUTHORS
Immunogenetics (incl. genetic immunology)Neurology and neuromuscular diseasesNeurogeneticsDevelopmental genetics (incl. sex determination)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (26)

|May 22, 2026
Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease.

|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

|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

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

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Frequent Collaborators

12 joint publications

Sébastien Küry

7 joint publications

Victor Moreno

7 joint publications

Benjamin Cogné

6 joint publications

Gad Rennert