Benjamin Dauriat

Limoges, France

Last Updated: 09/26/2026

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Found 24 publications

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

Journal: Research square

Published: January 08, 2026

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

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Journal: medRxiv : the preprint server for health sciences

Published: November 24, 2025

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

Journal: Annals of neurology

Published: May 11, 2025

Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow.

Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow.

Journal: International journal of neonatal screening

Published: May 08, 2025

Myeloid neoplasms risks for germline DDX41 pathogenic variants carriers.

Myeloid neoplasms risks for germline DDX41 pathogenic variants carriers.

Journal: European journal of human genetics : EJHG

Published: February 28, 2025

RBM20 Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants.

RBM20 Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants.

Journal: Circulation. Heart failure

Published: January 17, 2025

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Journal: Nature genetics

Published: October 02, 2024

Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies.

Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies.

Journal: Orphanet journal of rare diseases

Published: June 10, 2024

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

Journal: medRxiv : the preprint server for health sciences

Published: April 02, 2024

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Journal: Journal of medical genetics

Published: January 05, 2024

3q29 duplications: A cohort of 46 patients and a literature review.

3q29 duplications: A cohort of 46 patients and a literature review.

Journal: American journal of medical genetics. Part A

Published: September 20, 2023

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Last Updated: 09/26/2026