Marie-noelle N. Dupeyron-Bonnet

Valence, 26000, France

Last Updated: 09/26/2026

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Found 11 publications

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

Journal: Human molecular genetics

Published: April 08, 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

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Journal: Human molecular genetics

Published: July 27, 2023

Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort.

Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort.

Journal: Cancers

Published: May 25, 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

A wave of deep intronic mutations in X-linked Alport syndrome.

A wave of deep intronic mutations in X-linked Alport syndrome.

Journal: Kidney international

Published: July 05, 2022

The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients.

The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients.

Journal: Digestive diseases and sciences

Published: May 06, 2022

Alpha Satellite Insertion Close to an Ancestral Centromeric Region.

Alpha Satellite Insertion Close to an Ancestral Centromeric Region.

Journal: Molecular biology and evolution

Published: August 31, 2021

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Journal: American journal of human genetics

Published: June 15, 2021

Multiple and aggressive keratoacanthomas associated with Ferguson-Smith syndrome, successfully treated by cetuximab and cisplatin.

Multiple and aggressive keratoacanthomas associated with Ferguson-Smith syndrome, successfully treated by cetuximab and cisplatin.

Journal: European journal of dermatology : EJD

Published: April 19, 2021

Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torre syndrome-like patients.

Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torre syndrome-like patients.

Journal: Human mutation

Published: September 01, 2014

Showing 1-11 of 11

Last Updated: 09/26/2026