Stephane Bezieau

Nantes, France

Last Updated: 09/26/2026

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Found 200 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

PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France.

PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France.

Journal: BMJ open

Published: October 23, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 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

Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.

Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.

Journal: Neurogenetics

Published: July 02, 2025

Red meat intake interacts with a TGF-β-pathway-based polygenic risk score to impact colorectal cancer risk: Application of a novel approach for polygenic risk score construction.

Red meat intake interacts with a TGF-β-pathway-based polygenic risk score to impact colorectal cancer risk: Application of a novel approach for polygenic risk score construction.

Journal: medRxiv : the preprint server for health sciences

Published: June 26, 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

Identification of Hepatic-like EPO as a Cause of Polycythemia.

Identification of Hepatic-like EPO as a Cause of Polycythemia.

Journal: The New England journal of medicine

Published: April 30, 2025

Etiologic Diagnosis of Neuropathies Based on First-Line Screening of TTR Gene Mutations.

Etiologic Diagnosis of Neuropathies Based on First-Line Screening of TTR Gene Mutations.

Journal: Journal of the peripheral nervous system : JPNS

Published: April 20, 2025

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.

Journal: American journal of medical genetics. Part A

Published: January 14, 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

Showing 1-12 of 200

Last Updated: 09/26/2026