Christel Thauvin-Robinet

Dijon, France

Last Updated: 09/26/2026

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Found 289 publications

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: May 18, 2026

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: May 08, 2026

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: March 21, 2026

Parental acceptability of newborn screening expansion in the genomic era: A nationwide French survey informed by the Theoretical Framework of Acceptability (SeDeN-p3).

Parental acceptability of newborn screening expansion in the genomic era: A nationwide French survey informed by the Theoretical Framework of Acceptability (SeDeN-p3).

Journal: PloS one

Published: February 13, 2026

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

Journal: European journal of human genetics : EJHG

Published: February 02, 2026

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Journal: Frontiers in genetics

Published: December 05, 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

Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios.

Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios.

Journal: Molecular psychiatry

Published: October 02, 2025

Systematic Genetic Assessment in Young Patients With Cryptogenic Stroke: The ES-EASY project.

Systematic Genetic Assessment in Young Patients With Cryptogenic Stroke: The ES-EASY project.

Journal: Stroke

Published: September 19, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: July 31, 2025

Expanding the phenotype associated with biallelic SCNM1 variants.

Expanding the phenotype associated with biallelic SCNM1 variants.

Journal: Human genomics

Published: July 24, 2025

Showing 1-12 of 289

Last Updated: 09/26/2026