Jean Philippe Trani

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

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.