John David Rioux

This paper identifies causal genes in IBD GWAS loci by combining genetic, genomic, and functional data, finding that IRF6 enhances and IRF8 suppresses antiviral responses in intestinal epithelial cells.

This study identifies 619 IBD risk signals, resolves 81 high-confidence variants, and prioritizes 664 candidate effector genes using GWAS, eQTL, and exome sequencing.

This study uses exome and genome sequencing to identify 68 genes directly associated with inflammatory bowel disease, providing clearer genetic insights and therapeutic targets.

This study improves the reproducibility of antigen-specific T cell detection using standardized AIM assay workflows and automated analysis tools.

The paper estimates an elevated birth prevalence of Fraser syndrome in Quebec's French-Canadian population and identifies a founder pathogenic variant.

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

This study shows that C1ORF106 and its IBD variant regulate intestinal barrier permeability by controlling tight junctions, cell polarity, and F-actin dynamics through a ROCK-dependent mechanism.

This paper introduces the shortest reactional distance (SRD) metric to improve the biological interpretation of metabolite genome-wide association study (mGWAS) results by linking genes to metabolites based on metabolic pathway knowledge.

The paper identifies four IBD-associated genes that regulate calprotectin expression in myeloid cells and shows their role in prostaglandin signaling pathways linked to IBD susceptibility.

The paper functionally screens IBD genes in intestinal epithelial cells to identify their roles in epithelial structure and function, revealing DUSP16's role in mucosal defense.

This study identifies shared and ethnicity-specific HLA associations with ulcerative colitis through trans-ethnic analysis of diverse populations.

The paper identifies 7 novel IBD-causing genes in Ashkenazi Jewish IBD patients using exome sequencing and analyzes their overlap with early-onset IBD and other diseases.

The paper examines how sex and underlying disease influence the genetic link between prolonged QT interval and sudden cardiac death risk using logistic regression and Mendelian randomization.

This study evaluates the genetic architecture of sudden cardiac arrest through GWAS and Mendelian randomization, finding genetic correlations with CAD, height, BMI, and electrical instability traits.