Stéphanie Tomé

Cortical organoids from congenital DM1 PSCs reveal MBNL-dependent corticogenesis defects and enable preclinical testing of therapeutic compounds

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

Targeted sequencing of expanded tandem repeats: Identifying interruptions and errors

The paper develops CHARLIE, a method to identify interruptions and errors in expanded tandem repeats using targeted sequencing, validated on Huntington's disease and myotonic dystrophy type 1 samples.

Comparative analysis of CRISPR/Cas9-targeted nanopore sequencing approaches in repeat expansion disorders

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.

CCG interruptions are unstable and hypermethylated in DM1 patients

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

TALEN-induced contraction of CTG trinucleotide repeats in myotonic dystrophy type 1 cells

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.

Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing

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.