Sébastien Küry

26PUBLICATIONS
497CO-AUTHORS
Genome structure and regulationImmunogenetics (incl. genetic immunology)NeurogeneticsNeurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)
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Publications (26)

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

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

|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

|Apr 14, 2025
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

Amélie Cordovado, Yvan Hérenger, Coline Cormier

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Frequent Collaborators

13 joint publications

Stéphane Bézieau

6 joint publications

Frédéric Laumonnier

5 joint publications

Elke Krüger

5 joint publications

Wallid Deb