List of works by John D. Rioux

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

A High Density Association Study of the Extended Major Histocompatibility Locus in Ulcerative Colitis

article published in 2007

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

scientific article

A Pleiotropic Missense Variant in SLC39A8 Is Associated With Crohn's Disease and Human Gut Microbiome Composition

scientific article

A Second-Generation Association Study of the 5q31 Cytokine Gene Cluster and the Interleukin-4 Receptor in Asthma

article

A functional candidate screen for coeliac disease genes

scientific article

A genome-wide association study identifies IL23R as an inflammatory bowel disease gene

scientific article

A high-density screen for linkage in multiple sclerosis

scientific article

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.

scientific article published on 24 September 2006

A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms

scientific article

A human rheumatoid factor C304 shares VH and VL gene usage with antibodies specific for ubiquitous human viral pathogens

scientific article published in September 1994

A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01.

scientific article

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

scientific journal article

A molecular-properties-based approach to understanding PDZ domain proteins and PDZ ligands

scientific article published on 6 July 2006

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

scientific article published on 09 August 2016

A second major histocompatibility complex susceptibility locus for multiple sclerosis

scientific article published on March 2007

A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population

ATG16L1andIL23RAre Associated With Inflammatory Bowel Diseases but Not With Celiac Disease in The Netherlands

article

Absence of linkage between inflammatory bowel disease and selected loci on chromosomes 3, 7, 12, and 16

scientific article published on 01 November 1998

Activation of murine Kupffer cell tumoricidal activity by liposomes containing lipophilic muramyl dipeptide.

scientific article

An SNP linkage scan identifies significant Crohn's disease loci on chromosomes 13q13.3 and, in Jewish families, on 1p35.2 and 3q29.

scientific article published on 31 January 2008

An integrated haplotype map of the human major histocompatibility complex

scientific article

Anti-DNA and anti-platelet specificities of SLE-derived autoantibodies: evidence for CDR2H mutations and CDR3H motifs

scientific article

Appendectomy does not decrease the risk of future colectomy in UC: results from a large cohort and meta-analysis

scientific article published on 13 April 2016

Assessment of complement C4 gene copy number using the paralog ratio test

scientific article published on July 2010

Assessment of reliability and validity of IBD phenotyping within the National Institutes of Diabetes and Digestive and Kidney Diseases (NIDDK) IBD Genetics Consortium (IBDGC)

article

Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families: increased T allele frequency in systemic lupus erythematosus patients with autoimmune thyroid disease

scientific article published in August 2005

Association of DLG5 R30Q variant with inflammatory bowel disease

scientific article (publication date: July 2005)

Association of LY9 in UK and Canadian SLE families

scientific article published on 24 January 2008

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Autoimmune diseases: insights from genome-wide association studies

scientific article published on October 2008

Autophagy as an important process in gut homeostasis and Crohn's disease pathogenesis

scientific article published on 13 February 2008

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11.

scientific article

C1orf106 is a colitis risk gene that regulates stability of epithelial adherens junctions.

scientific article

CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure

scientific article published on 17 May 2002

CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis

scientific article

Characterization of a Human Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for the Study of Variant Pathogenicity: Validation of a KCNJ2 Mutation

scientific article published in October 2017

Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans

scientific article

Clinical, serologic, and genetic factors associated with pyoderma gangrenosum and erythema nodosum in inflammatory bowel disease patients

scientific article

Common variants at five new loci associated with early-onset inflammatory bowel disease

scientific article

Common variants in the NLRP3 region contribute to Crohn's disease susceptibility

scientific article published on 21 December 2008

Comprehensive and Reproducible Untargeted Lipidomic Workflow Using LC-QTOF Validated for Human Plasma Analysis

scientific article published on 10 October 2018

Construction and benchmarking of a multi-ethnic reference panel for the imputation of HLA class I and II alleles.

scientific article published in June 2019

Contribution of higher risk genes and European admixture to Crohn's disease in African Americans

scientific article published on 12 March 2012

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

correction of a scientific article; published on 30 May 2019

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

Crohn's disease susceptibility variants in Colombian tuberculosis patients

scientific article published in January 2014

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

scientific article

Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis

scientific article

Defining the role of the MHC in autoimmunity: a review and pooled analysis

scientific article

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

scientific article published on September 2008

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

scientific article

Diagnostic misclassification reduces the ability to detect linkage in inflammatory bowel disease genetic studies

scientific article

Direct or indirect association in a complex disease: the role ofSLC22A4 andSLC22A5 functional variants in Crohn disease

article

Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping

article

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

scientific article published on 13 September 2016

Erratum: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scholarly article published in Nature Genetics

Erratum: Corrigendum: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study

scholarly article published in Nature Genetics

Erratum: Genetic loci associated with heart rate variability and their effects on cardiac disease risk

scientific article published on 2 August 2017

Erratum: Genome-wide association identifies multiple ulcerative colitis susceptibility loci

scholarly article published in Nature Genetics

Erythroid-lineage-specific engraftment in patients with severe hemoglobinopathy following allogeneic hematopoietic stem cell transplantation

scientific article published on 11 June 2008

Evaluating the role of the 620W allele of protein tyrosine phosphatase PTPN22 in Crohn's disease and multiple sclerosis

scientific article published in March 2006

Evaluation of Toll-like receptor and adaptor molecule polymorphisms for susceptibility to tuberculosis in a Colombian population

scientific article published on 5 January 2012

Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12,566 individuals

scientific article

Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men

article

Exome-wide association study of plasma lipids in >300,000 individuals

scientific article published on 30 October 2017

Exploring the Use of a Participative Design in the Early Development of a Predictive Test: The Importance of Physician Involvement

scientific article

Expression and functional analysis of intestinal organic cation/L-carnitine transporter (OCTN) in Crohn's disease

scientific article published on 25 September 2011

Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33.

scientific article

Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects

scientific article

Fine-mapping inflammatory bowel disease loci to single-variant resolution

scientific article

Functional screen of inflammatory bowel disease genes reveals key epithelial functions

scientific article published on 11 November 2021

GWA studies: rewriting the story of IBD.

scientific article published on 13 February 2009

Genetic Factors Interact With Tobacco Smoke to Modify Risk for Inflammatory Bowel Disease in Humans and Mice

scientific article published on 12 May 2017

Genetic Predictors of Benign Course of Ulcerative Colitis-A North American Inflammatory Bowel Disease Genetics Consortium Study

scientific article

Genetic analysis of multiple sclerosis

Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.

scientific article

Genetic loci associated with heart rate variability and their effects on cardiac disease risk

scientific article

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

scientific article

Genetic studies of body mass index yield new insights for obesity biology

scientific article

Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis

scientific article published on 6 February 2009

Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus

scientific journal article

Genetic variation in myosin IXB is associated with ulcerative colitis

scientific article

Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease

article

Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis

scientific article

Genetic variation in toll-like receptor 9 and susceptibility to systemic lupus erythematosus.

scientific article

Genome scan analyses and positional cloning strategy in IBD: successes and limitations

scientific article published on June 2004

Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease.

scientific article published on 28 September 2016

Genome-wide analysis of immune system genes by expressed sequence Tag profiling

scientific article published on 24 April 2013

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

scientific article

Genome-wide association identifies multiple ulcerative colitis susceptibility loci

scientific article

Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci

scientific article

Genome-wide association studies: a new window into immune-mediated diseases

scientific article published on August 2008

Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis

scientific article

Genome-wide expression profiling implicates a MAST3-regulated gene set in colonic mucosal inflammation of ulcerative colitis patients

scientific article published on 12 October 2011

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

scientific article

Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height

scientific article

Genomewide search and association studies in a Finnish celiac disease population: Identification of a novel locus and replication of the HLA and CTLA4 loci

article

Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci

scientific article

Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait

scientific article

HLA diversity in the 1000 genomes dataset

scientific article

Haplotype analysis of tumour necrosis factor receptor genes in 1p36: no evidence for association with systemic lupus erythematosus

article

Haplotype structure of TNFRSF5-TNFSF5 (CD40-CD40L) and association analysis in systemic lupus erythematosus

scientific article published in May 2005

Haplotype-based association analysis of 56 functional candidate genes in the IBD6 locus on chromosome 19

article

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

scientific article

High-resolution haplotype structure in the human genome

article

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

scientific article

Hundreds of variants clustered in genomic loci and biological pathways affect human height

scientific article

IBD5 is a general risk factor for inflammatory bowel disease: replication of association with Crohn disease and identification of a novel association with ulcerative colitis

scientific article

IBD5 is associated with an extensive complicated Crohn's disease feature: implications from genotype-phenotype analysis

scientific article published on January 2007

IL23R (Interleukin 23 Receptor) Variants Protective against Inflammatory Bowel Diseases (IBD) Display Loss of Function due to Impaired Protein Stability and Intracellular Trafficking

scientific article published on 17 February 2016

Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population

article

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

scientific article

Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals

scientific article

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

scientific article published on 14 April 2013

Identification of two independent risk factors for lupus within the MHC in United Kingdom families

scientific article

Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients

scientific article published on 20 April 2023

Identifying susceptibility genes for immunological disorders: patterns, power, and proof

scientific article

Immunoglobulin gene usage in the human anti-pathogen response.

scientific article published on September 1995

Impaired autophagy of an intracellular pathogen induced by a Crohn's disease associated ATG16L1 variant

scientific article

Inflamed Ulcerative Colitis Regions Associated With MRGPRX2-Mediated Mast Cell Degranulation and Cell Activation Modules, Defining a New Therapeutic Target

scientific article published on 06 January 2021

Inflammatory bowel disease characteristics among African Americans, Hispanics, and non-Hispanic Whites: characterization of a large North American cohort

scientific article (publication date: May 2006)

Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs

scientific article published on 19 February 2004

Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study

scientific article

Innate Control of Tissue-Reparative Human Regulatory T Cells

scientific article published on 08 March 2019

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

preprint published 25 September 2016

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

scientific article

LRRK2 is involved in the IFN-gamma response and host response to pathogens

scientific article

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases

scientific article

Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome

scientific article (publication date: 15 May 1998)

Lipidomics unveils lipid dyshomeostasis and low circulating plasmalogens as biomarkers in a monogenic mitochondrial disorder

scientific article published on 25 July 2019

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.

scientific article

Loss of hepatic LRPPRC alters mitochondrial bioenergetics, regulation of permeability transition and trans-membrane ROS diffusion

scientific article published on 31 May 2017

Lrrk2 alleles modulate inflammation during microbial infection of mice in a sex-dependent manner

scientific article published on 01 September 2019

MHC region and risk of systemic lupus erythematosus in African American women

scientific article published on 22 June 2011

Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases

scientific article published on 21 October 2009

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scientific journal article

Molecular characterization of the GM 4672 human lymphoblastoid cell line and analysis of its use as a fusion partner in the generation of human-human hybridoma autoantibodies

scientific article published on July 1, 1993

Molecular pathogenesis of inflammatory bowel disease: genotypes, phenotypes and personalized medicine

scientific article published on January 2007

New approaches to gene hunting in IBD.

scientific article published in May 2004

Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy

scientific article

OR.102. The CD58 Pathway is Implicated in MS Susceptibility

Occupational and environmental exposures and risk of systemic lupus erythematosus: silica, sunlight, solvents

scientific article

Ocular Manifestations in Inflammatory Bowel Disease Are Associated with Other Extra-intestinal Manifestations, Gender, and Genes Implicated in Other Immune-related Traits.

scientific article published on 8 October 2015

Optimus Primer: A PCR enrichment primer design program for next-generation sequencing of human exonic regions

scientific article

Paths to understanding the genetic basis of autoimmune disease

scientific article

Phenotype-stratified genetic linkage study demonstrates that IBD2 is an extensive ulcerative colitis locus.

scientific article

Phenotypic and genotypic characteristics of inflammatory bowel disease in French Canadians: comparison with a large North American repository

scientific article published on 09 June 2009

Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals

scientific article

Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus

scientific article published on 02 December 2007

Pooled DNA Resequencing of 68 Myocardial Infarction Candidate Genes in French Canadians

article

Prevalence of CARD15/NOD2 mutations in Caucasian healthy people

scientific article

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 22 December 2017

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 01 July 2019

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

scientific article published on 16 March 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

scientific article

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits

scientific article (publication date: June 2014)

Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease

article

Relationship between proximal Crohn's disease location and disease behavior and surgery: a cross-sectional study of the IBD Genetics Consortium

scientific article

Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor

scientific article published on 18 March 2009

Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4

scientific article

Reply to Tenesa et al ‘Association of DLG5 and inflammatory bowel disease across populations’

Restricted variable region gene usage and possible rheumatoid factor relationship among human monoclonal antibodies specific for the AD-1 epitope on cytomegalovirus glycoprotein B.

scientific article published in September 1994

Risk alleles for multiple sclerosis identified by a genomewide study

scientific article (publication date: 30 August 2007)

Role of the IBD5 susceptibility locus in the inflammatory bowel diseases

scientific article

Specific targeting of the IL-23 receptor, using a novel small peptide noncompetitive antagonist, decreases the inflammatory response

scientific article published on 20 August 2014

Structural characteristics of four human hybridoma antibodies specific for the pp65 protein of the human cytomegalovirus and their relationship to human rheumatoid factors

scientific article published in June 1994

T-bet polymorphisms are associated with asthma and airway hyperresponsiveness

scientific article

TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT

scientific article

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

The dichotomous pattern of IL-12r and IL-23R expression elucidates the role of IL-12 and IL-23 in inflammation

scientific article

The promise and perils of interpreting genetic associations in Crohn's disease

scientific article

The role of the CD58 locus in multiple sclerosis

scientific article

Transancestral mapping and genetic load in systemic lupus erythematosus

scientific article published on 17 July 2017

Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland

scientific article

Ubiquitin Ligase TRIM62 Regulates CARD9-Mediated Anti-fungal Immunity and Intestinal Inflammation

scientific article published on October 2015

Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study

scientific article

Understanding Association and Causality in the Genetic Studies of Inflammatory Bowel Disease

Unraveling Multiple MHC Gene Associations with Systemic Lupus Erythematosus: Model Choice Indicates a Role for HLA Alleles and Non-HLA Genes in Europeans.

scientific article published on 3 September 2015

Unraveling multiple MHC gene associations with systemic lupus erythematosus: model choice indicates a role for HLA alleles and non-HLA genes in Europeans

scientific article

Using a Genome-Wide Scan and Meta-analysis to Identify a Novel IBD Locus and Confirm Previously Identified IBD Loci

article

Variation within DNA repair pathway genes and risk of multiple sclerosis

scientific article published on 3 June 2010

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