Vincent Dion

This study demonstrates that a single-AAV vector delivering the SpCas9 nickase and sgRNA achieves greater CAG/CTG repeat contraction in a Huntington's disease mouse model compared to a dual-vector system.

Delta plots from targeted long-read data separate repeat instability frequency, expansion bias and change size; a single-clone assay (SCIA) shows FAN1 knockout raises expansion frequency but shrinks expansions.

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.

The paper identifies transcriptional changes in fetal HD striatal tissue using single-cell RNA sequencing, revealing molecular features of HD pathology present during early development.

The paper introduces a new assay called TRX to monitor CAG*CTG triplet repeat expansions more rapidly and sensitively than existing methods.

The paper demonstrates that CRISPR-Cas9 nickase can contract CAG/CTG repeats in patient-derived cells and improve molecular and behavioral phenotypes in Huntington's disease.

Repeat Detector accurately measures expanded tandem repeats and identifies interrupted alleles in targeted DNA sequencing data from Huntington's disease patients.

The paper develops a system to study how expanded CAG/CTG repeats affect gene silencing via epigenome editing and finds that repeats reduce silencing effectiveness.

This study investigates whether CAG/CTG repeat expansion alters chromatin folding using 4C sequencing and finds that chromatin contacts remain stable despite repeat expansion.

The paper introduces a method to reduce PCR carry-over contamination in expanded CAG/CTG repeat instability studies using Uracil N-Glycosylase and dUTP.