Cynthia Gagnon

Three-Year Longitudinal Analysis of Splicing Changes in Myotonic Dystrophy Type 1

This study tracks splicing index changes in DM1 patients over three years, finding worsening SI scores with variability among participants and associations with clinical phenotypes and baseline severity.

A haplotype-based approach for myotonic dystrophy type 1

This paper identifies a DM1-associated haplotype in all patients using haplotype-based methods, demonstrating its utility for carrier status inference without direct repeat sizing.

Aligning gene trees with family trees

The paper introduces an algorithm to align genetic tree sequences with genealogical pedigrees, demonstrating its scalability and application to reconstruct allele inheritance.

Rare diseases load through the study of a regional population

This study identifies rare genetic variants in a Quebec population with a founder effect, validates known variants, discovers new ones, and highlights their clinical relevance.

A data-driven framework for the selection and validation of digital health metrics: use-case in neurological sensorimotor impairments

The paper introduces a framework to select and validate digital health metrics for assessing sensorimotor impairments using the Virtual Peg Insertion Test, showing its feasibility and validity in neurological patients.