Guillaume Jedraszak

Amiens, France

Last Updated: 09/26/2026

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Found 49 publications

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Journal: Clinical genetics

Published: April 09, 2026

Long-read Oxford Nanopore sequencing enables rapid, cost-effective, and comprehensive TTR genetic testing for hereditary transthyretin amyloidosis.

Long-read Oxford Nanopore sequencing enables rapid, cost-effective, and comprehensive TTR genetic testing for hereditary transthyretin amyloidosis.

Journal: Clinical chemistry and laboratory medicine

Published: April 08, 2026

Case report and literature review of neurodevelopmental syndrome linked to DOT1L variants.

Case report and literature review of neurodevelopmental syndrome linked to DOT1L variants.

Journal: Gene

Published: August 12, 2025

MYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French Cohort.

MYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French Cohort.

Journal: Pediatric cardiology

Published: August 02, 2025

Prognosis for loss-of-function vs hot-spot variants in RBM20-related cardiomyopathy.

Prognosis for loss-of-function vs hot-spot variants in RBM20-related cardiomyopathy.

Journal: Heart rhythm

Published: April 17, 2025

Systematic triplet expansion testing in patients with genetically negative Brugada syndrome.

Systematic triplet expansion testing in patients with genetically negative Brugada syndrome.

Journal: Revista espanola de cardiologia (English ed.)

Published: March 01, 2025

High-resolution optical genome mapping unveils gene disruptions in a reciprocal chromosomal translocation and severe male infertility: a case report.

High-resolution optical genome mapping unveils gene disruptions in a reciprocal chromosomal translocation and severe male infertility: a case report.

Journal: Journal of assisted reproduction and genetics

Published: February 20, 2025

RBM20 Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants.

RBM20 Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants.

Journal: Circulation. Heart failure

Published: January 17, 2025

TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023.

TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023.

Journal: European journal of neurology

Published: December 09, 2024

Genetics Investigation of Idiopathic Premature Ovarian Insufficiency: Contribution of Array-CGH and Next-Generation Sequencing.

Genetics Investigation of Idiopathic Premature Ovarian Insufficiency: Contribution of Array-CGH and Next-Generation Sequencing.

Journal: Genes

Published: September 22, 2024

Serum bile acids profiles are altered without change of the gut microbiota composition following a seven-day prednisolone therapy in severe alcoholic hepatitis.

Serum bile acids profiles are altered without change of the gut microbiota composition following a seven-day prednisolone therapy in severe alcoholic hepatitis.

Journal: Gut microbes

Published: July 30, 2024

Prenatal Diagnosis of Proteus Syndrome: About a Case.

Prenatal Diagnosis of Proteus Syndrome: About a Case.

Journal: American journal of medical genetics. Part A

Published: June 11, 2024

Showing 1-12 of 49

Last Updated: 09/26/2026