Martin Chevarin

Dijon, France

Last Updated: 09/26/2026

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Found 41 publications

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy.

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy.

Journal: HGG advances

Published: June 02, 2026

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

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Journal: The Journal of clinical investigation

Published: April 26, 2024

Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.

Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.

Journal: The British journal of dermatology

Published: February 12, 2024

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2 -Related Disorders to a Syndromic Multiple Tumor Phenotype.

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2 -Related Disorders to a Syndromic Multiple Tumor Phenotype.

Journal: American journal of medical genetics. Part A

Published: January 10, 2024

Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Journal: Clinical genetics

Published: December 14, 2023

Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

Journal: European journal of human genetics : EJHG

Published: November 17, 2023

Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.

Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.

Journal: American journal of medical genetics. Part A

Published: March 09, 2023

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.

Journal: Oncotarget

Published: February 07, 2023

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.

Journal: Journal of medical genetics

Published: January 29, 2023

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Journal: Clinical genetics

Published: December 23, 2022

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

Journal: European journal of human genetics : EJHG

Published: November 01, 2022

Showing 1-12 of 41

Last Updated: 09/26/2026