Author details

Full Name

Philippe Goyette

Affiliation

ORCID

Career Start Year

1994

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36527757	Identifying transcript-level differential expression in primary human immune cells.		2023
35218908	IBD-associated G protein-coupled receptor 65 variant compromises signalling and impairs key functions involved in inflammation.	Cellular Signalling	2022
35394816	Human enteric viruses autonomously shape inflammatory bowel disease phenotype through divergent innate immunomodulation.	Sci Immunol	2022
36038634	Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility.	Nat Genet	2022
35952671	Epigenetic reader SP140 loss of function drives Crohn's disease due to uncontrolled macrophage topoisomerases.	Cell	2022
36155972	Prostaglandins and calprotectin are genetically and functionally linked to the Inflammatory Bowel Diseases.	PLoS Genetics	2022
34758847	Functional screen of inflammatory bowel disease genes reveals key epithelial functions.	Genome Med	2021
32469933	A transcriptome-based approach to identify functional modules within and across primary human immune cells.	PLoS ONE	2020
30169657	A comprehensive evaluation of the genetic architecture of sudden cardiac arrest.	Eur Heart J	2018
29021306	Characterization of a Human Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for the Study of Variant Pathogenicity: Validation of a Mutation.	Circulation: Cardiovascular Genetics	2017
28767105	Erratum: Genetic loci associated with heart rate variability and their effects on cardiac disease risk.	Nat Commun	2017
28658209	Fine-mapping inflammatory bowel disease loci to single-variant resolution.	Nature	2017
28613276	Genetic loci associated with heart rate variability and their effects on cardiac disease risk.	Nat Commun	2017
27619887	Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.	Nat Commun	2016
28491681	Novel mutations in pediatric long QT syndrome patients support a -specific calmodulinopathy.	HeartRhythm Case Reports	2016
26921763	Reduction in Na(+) current by angiotensin II is mediated by PKCÎ± in mouse and human-induced pluripotent stem cell-derived cardiomyocytes.	Heart Rhythm	2016
26490195	Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study.	Lancet	2016
27861123	TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.	EMBO Mol Med	2016
27503255	A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.	Nat Commun	2016
25559196	High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis.	Nat Genet	2015
23583979	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Nat Genet	2013
24068945	Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.	PLoS Genet	2013
21994190	Genome-wide expression profiling implicates a MAST3-regulated gene set in colonic mucosal inflammation of ulcerative colitis patients.	Inflamm Bowel Dis	2012
22325173	Expression and functional analysis of intestinal organic cation/L-carnitine transporter (OCTN) in Crohn's disease.		2012
23128233	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	Nature	2012
21738491	Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals.	PLoS Genet	2011
21298027	A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease.	PLoS Genet	2011
21297633	Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.	Nat Genet	2011
20962850	A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles.	Genes Immun	2011
21983784	Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.	Nat Genet	2011
20228799	Genome-wide association identifies multiple ulcerative colitis susceptibility loci.	Nat Genet	2010
20935630	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Nat Genet	2010
20593013	A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01.	PLoS One	2010
19846760	Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases.	Proc Natl Acad Sci U S A	2009
19122664	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	Nat Genet	2009
19201773	Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis.	Gut	2009
19513023	Phenotypic and genotypic characteristics of inflammatory bowel disease in French Canadians: comparison with a large North American repository.	Am J Gastroenterol	2009
18650832	MAST3: a novel IBD risk factor that modulates TLR4 signaling.	Genes Immun	2008
19079170	Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis.	Mucosal Immunol	2008
19165925	Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease.	Nat Genet	2008
18437207	Defining the role of the MHC in autoimmunity: a review and pooled analysis.	PLoS Genet	2008
17435756	Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.	Nat Genet	2007
17457716	Molecular pathogenesis of inflammatory bowel disease: genotypes, phenotypes and personalized medicine.	Ann Med	2007
15094780	RARgamma acts as a tumor suppressor in mouse keratinocytes.	Oncogene	2004
12370778	Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms.	Mammalian Genome	2002
11034076	Regulation of gli activity by all-trans retinoic acid in mouse keratinocytes.	Cancer Research	2000
10748128	Characterization of retinoic acid receptor-deficient keratinocytes.	Journal of Biological Chemistry	2000
10923034	The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase.	Human Mutation	2000
9680386	Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)	Mammalian Genome	1998
9762613	Homocystinuria (methylenetetrahydrofolate reductase deficiency) and mutation of factor V gene.	Journal of Inherited Metabolic Disease	1998