Geneviève Gourdon

This study uses cortical organoids from congenital DM1 patient cells to show MBNL-dependent neurodevelopmental defects and test therapeutic compounds.

This study develops chemically optimized miR-23b antimiRs that enhance muscle uptake and restore MBNL1 function in DM1 models, showing improved efficacy and safety.

This study compares CRISPR/Cas9-targeted nanopore sequencing approaches for characterizing repeat expansions in DM1 and OPDM, showing the impact of basecalling strategies and identifying somatic mosaicism and hypermethylation.

This study shows CCG interruptions in DM1 are unstable and hypermethylated, contributing to CTG repeat stabilization.

This study identifies FasII upregulation as a key factor in DM1 neuropathology using a Drosophila model, showing that manipulating FasII isoforms can rescue synaptic and behavioral defects.

This study uses TALENs to contract CTG repeats in DM1 cells, achieving 68% contraction with a recoded TALEN, while SaCas9 failed, and identifies potential off-target effects.

The paper develops an amplification-free long-read sequencing method using CRISPR/Cas9 to accurately measure CTG repeat expansions in DM1 patients, identifying a CCG-enriched expanded allele.

The paper identifies straightjacket/α2δ3 deregulation as a contributor to cardiac conduction defects in DM1 by showing its overexpression in fly models and human patients.