Catherine Laprise

The paper identifies rare founder variants in a population and develops a platform for variant prioritization, showing that some pathogenic variants may be missed by conventional methods.

The paper examines how season and city characteristics influence urban bioaerosol composition, finding that sampling period explains more variation than vegetation cover or socioeconomic factors.

This paper identifies 4,5-dihydroxyhexanoic acid as a biomarker for mitochondrial disease severity and links it to GABA metabolism.

The paper identifies enriched coding variants in a French-Canadian founder population and explores their association with inflammatory bowel diseases.

The paper highlights the importance of fine-scale population structure in genetic studies, showing that smaller cohorts with distinct structure have higher rare variant frequencies, aiding in new genetic variant discovery.

This paper uses genealogies to trace the demographic history of the Quebec founder population, revealing how regional founder effects shaped population structure and genetic diversity over time.

The paper introduces a new function in the GENLIB R package to simulate haplotype transmission in large complex genealogies.

This study assesses CNV burden and segregation in epilepsy patients and controls, finding enrichment of large deletions in genetic generalized epilepsies but no support for unmasked variants or double CNVs explaining incomplete penetrance.

The paper calculates polygenic risk scores for epilepsy subtypes in a French-Canadian cohort and finds they provide reliable genetic contribution estimates, though clinical use requires further study.

The paper identifies GSDMA as a gene in naive CD4+ T cells that modulates expression and methylation levels, driving the 17q12-21 asthma association.