Frédérique Magdinier

Chemical inhibition of SUMOylation activates the FSHD locus

The paper shows that inhibiting SUMOylation with TAK981 increases DUX4 expression in human muscle cells without affecting DNA methylation or SMCHD1 activity, suggesting a new therapeutic approach for FSHD.

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

Pylluminator provides a scalable Python toolkit for analyzing DNA methylation data from Illumina arrays, offering preprocessing, quality control, and differential methylation analysis.

Comparison of long-read sequencing strategies for resolving complex genotypes at Facioscapulohumeral dystrophy-associated loci

This paper compares long-read sequencing strategies to resolve complex genotypes at FSHD-associated loci, showing that structural variants arise from intrachromosomal recombination and require high-resolution methods for accurate detection.

D4Z4End2End: complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS and reference cohorts

This paper develops D4Z4End2End, a workflow using long-read sequencing to characterize D4Z4 macrosatellite genetics and methylation in FSHD, BAMS, and reference cohorts, revealing new variants and methylation patterns.

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

This paper identifies the HUSH-SETDB1-MORC2 complex as essential for maintaining HSV-1 latency by promoting H3K9me3 chromatin marks on viral genomes in neurons.

Telomere Position Effect Over Long Distance acts as a genome-wide epigenetic regulator through a common cis- element.

The paper identifies a common cis-acting motif involved in TPE-OLD, showing RBPJ binding to Alu-like elements at telomeres to regulate gene expression.

A Multi-Objective Genetic Algorithm to Find Active Modules in Multiplex Biological Networks

MOGAMUN identifies active modules in multiplex biological networks by optimizing interaction density and node scores, outperforming existing methods in interpretability and handling multiplex data.

SMCHD1 variants may induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome

The paper investigates SMCHD1's role in two genetic syndromes, showing it regulates chromatin and gene expression through DNA methylation and chromatin organization.