Anne Dieux

Lille, France

Last Updated: 09/26/2026

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Found 25 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

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

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

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

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

Published: October 01, 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

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

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.

Journal: Clinical genetics

Published: May 06, 2025

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.

Journal: Clinical genetics

Published: April 25, 2025

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.

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

Published: March 20, 2024

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Journal: American journal of human genetics

Published: December 08, 2023

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: May 10, 2023

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

Journal: Clinical genetics

Published: October 21, 2021

Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.

Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.

Journal: Human mutation

Published: July 01, 2019

Showing 1-12 of 25

Last Updated: 09/26/2026