Philippe Goyette

A systematic analysis of IBD GWAS loci identifies most probable causal genes impacting intestinal epithelial functions

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.

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases

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

Inflammatory bowel disease risk gene C1ORF106 regulates actin dynamics in intestinal epithelial cells

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.

Prostaglandins and calprotectin are genetically and functionally linked to the Inflammatory Bowel Diseases

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.

Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility

The paper identifies ten new genes with coding variants linked to Crohn's disease risk using sequencing data from over 30,000 patients and 80,000 controls.

Functional screen of Inflammatory Bowel Disease genes reveals key epithelial functions

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.

The effect of sex and underlying disease on the genetic association of QT interval and sudden cardiac death

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.

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

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.

A protein truncating R179X variant in RNF186 confers protection against ulcerative colitis

The paper identifies a protein truncating variant in RNF186 that protects against ulcerative colitis by reducing disease risk.

Association mapping of inflammatory bowel disease loci to single variant resolution

This study fine-maps 94 inflammatory bowel disease loci to identify 45 causal variants with high confidence, providing insights into their functional impacts on disease mechanisms.