Sebastien Kury

Nantes, France

Last Updated: 09/26/2026

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Found 125 publications

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Journal: medRxiv : the preprint server for health sciences

Published: December 19, 2025

Role of CAMK2D in neurodevelopment and associated conditions.

Role of CAMK2D in neurodevelopment and associated conditions.

Journal: American journal of human genetics

Published: August 12, 2025

Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease.

Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease.

Journal: Journal of human immunity

Published: May 16, 2025

Multiple polygenic score approach in colorectal cancer risk prediction.

Multiple polygenic score approach in colorectal cancer risk prediction.

Journal: Scientific reports

Published: May 07, 2025

Using gene-environment interactions to explore pathways for colorectal cancer risk.

Using gene-environment interactions to explore pathways for colorectal cancer risk.

Journal: EBioMedicine

Published: February 10, 2025

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Journal: Nature communications

Published: December 18, 2024

Germline mutations in a G protein identify signaling cross-talk in T cells.

Germline mutations in a G protein identify signaling cross-talk in T cells.

Journal: Science (New York, N.Y.)

Published: September 19, 2024

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

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

Journal: Human mutation

Published: June 30, 2024

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 28, 2024

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Journal: Research square

Published: June 21, 2024

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.

Journal: EBioMedicine

Published: April 29, 2024

Sex hormones and risk of lung and colorectal cancers in women: a Mendelian randomization study.

Sex hormones and risk of lung and colorectal cancers in women: a Mendelian randomization study.

Journal: Research square

Published: April 25, 2024

Showing 1-12 of 125

Last Updated: 09/26/2026