Frederic T. Them-Mau

Dijon, France

Last Updated: 09/26/2026

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Found 49 publications

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.

Journal: bioRxiv : the preprint server for biology

Published: March 27, 2026

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Journal: European journal of human genetics : EJHG

Published: September 19, 2025

KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model.

KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model.

Journal: Communications biology

Published: September 06, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences

Published: April 16, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: American journal of human genetics

Published: April 01, 2025

The genetic and phenotypic spectrum of GABRB1-related disorders.

The genetic and phenotypic spectrum of GABRB1-related disorders.

Journal: Brain : a journal of neurology

Published: December 19, 2024

The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS.

The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS.

Journal: Prenatal diagnosis

Published: October 10, 2024

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Journal: EBioMedicine

Published: October 08, 2024

RICTOR variants are associated with neurodevelopmental disorders.

RICTOR variants are associated with neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: August 01, 2024

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

Journal: European journal of human genetics : EJHG

Published: July 11, 2024

SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

Journal: Clinical genetics

Published: May 12, 2024

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

Journal: American journal of human genetics

Published: March 25, 2024

Showing 1-12 of 49

Last Updated: 09/26/2026