Frederique Magdinier

Marseille, France

Last Updated: 09/26/2026

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Found 75 publications

Biomarkers in facioscapulohumeral muscular dystrophy.

Biomarkers in facioscapulohumeral muscular dystrophy.

Journal: Current opinion in neurology
Published: August 22, 2026

Pylluminator: fast and scalable analysis of DNA methylation data in Python.

Pylluminator: fast and scalable analysis of DNA methylation data in Python.

Journal: Bioinformatics advances
Published: March 19, 2026

Bridging past and future: the evolution of genetic diagnosis in FSHD and the role of emerging technologies in a globalized framework.

Bridging past and future: the evolution of genetic diagnosis in FSHD and the role of emerging technologies in a globalized framework.

Journal: Neuromuscular disorders : NMD
Published: February 06, 2026

Generation of the iPSC line CRNLi001-A from a patient with microcephaly and harbouring the most recurrent RTTN variant, c.2953A>G, at homozygous state.

Generation of the iPSC line CRNLi001-A from a patient with microcephaly and harbouring the most recurrent RTTN variant, c.2953A>G, at homozygous state.

Journal: Stem cell research
Published: February 06, 2026

Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity.

Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity.

Journal: Brain : a journal of neurology
Published: August 12, 2025

Chemical inhibition of SUMOylation activates the FSHD locus.

Chemical inhibition of SUMOylation activates the FSHD locus.

Journal: Scientific reports
Published: August 04, 2025

Cranial placode differentiation defect in individuals born without a nose.

Cranial placode differentiation defect in individuals born without a nose.

Journal: Stem cell reports
Published: June 05, 2025

Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2End.

Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2End.

Journal: Genome research
Published: May 07, 2025

Corrigendum: Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.

Corrigendum: Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.

Journal: Frontiers in medicine
Published: March 17, 2025

miR-140-5p Overexpression Contributes to Oxidative Stress and Mitochondrial Dysfunction in Hutchinson-Gilford Progeria Syndrome Fibroblasts Through NRF2 Pathway.

miR-140-5p Overexpression Contributes to Oxidative Stress and Mitochondrial Dysfunction in Hutchinson-Gilford Progeria Syndrome Fibroblasts Through NRF2 Pathway.

Journal: Aging cell
Published: March 17, 2025

The HUSH epigenetic repressor complex silences PML nuclear body-associated HSV-1 quiescent genomes.

The HUSH epigenetic repressor complex silences PML nuclear body-associated HSV-1 quiescent genomes.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: November 26, 2024

Telomere Position Effect-Over Long Distances Acts as a Genome-Wide Epigenetic Regulator Through a Common Alu Element.

Telomere Position Effect-Over Long Distances Acts as a Genome-Wide Epigenetic Regulator Through a Common Alu Element.

Journal: Aging cell
Published: October 30, 2024
Showing 1-12 of 75

Last Updated: 09/26/2026