Sébastien Küry

25PUBLICATIONS

494CO-AUTHORS

Immunogenetics (incl. genetic immunology)NeurogeneticsNeurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)Predictive and prognostic markers

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Publications (25)

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|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

|Nov 23, 2024

Associations of blood lipids and LDL cholesterol lowering drug-targets with colorectal cancer risk: a Mendelian randomisation study.

Wing Ching Chan, Lili Liu, Emmanouil Bouras

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Frequent Collaborators

12 joint publications

Stéphane Bézieau

Elke Krüger

Frédéric Ebstein

Tzung-Chien Hsieh

Frédéric Laumonnier

Benjamin Cogné

Peter M Krawitz

Ype Elgersma

Geeske van Woerden

Kirsty McWalter

Frequent Collaborators

12 joint publications

Stéphane Bézieau

5 joint publications

Elke Krüger

5 joint publications

Frédéric Ebstein

5 joint publications

Tzung-Chien Hsieh