Marie Bournez

Dijon, 21000, France

Last Updated: 09/26/2026

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Found 25 publications

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

RAS/MAPK pathway modulation with simvastatin in children with Noonan syndrome: a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

RAS/MAPK pathway modulation with simvastatin in children with Noonan syndrome: a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

Journal: EClinicalMedicine

Published: March 24, 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

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: August 08, 2025

Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort.

Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort.

Journal: Molecular autism

Published: March 23, 2025

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

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.

Journal: European journal of medical genetics

Published: August 31, 2023

Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.

Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.

Journal: European journal of medical genetics

Published: June 13, 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

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: May 27, 2022

Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.

Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.

Journal: American journal of medical genetics. Part A

Published: February 18, 2022

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.

Journal: Journal of medical genetics

Published: December 07, 2021

Showing 1-12 of 25

Last Updated: 09/26/2026