Lista de obras -

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

A transcriptome-based approach to identify functional modules within and across primary human immune cells

artículo científico publicado en 2020

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

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

artículo científico publicado en 2017

Common variation in fatty acid metabolic genes and risk of incident sudden cardiac arrest

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

Effect of Sex and Underlying Disease on the Genetic Association of QT Interval and Sudden Cardiac Death

scientific article published on 21 November 2019

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

scholarly article published in Nature Genetics

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

Functional screen of inflammatory bowel disease genes reveals key epithelial functions

artículo científico publicado en 2021

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

artículo científico publicado en 2017

Genome-wide association identifies multiple ulcerative colitis susceptibility loci

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado el 12 de octubre de 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

scientific journal article

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

artículo científico publicado en 2007

Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms

artículo científico publicado en 2002

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

RARgamma acts as a tumor suppressor in mouse keratinocytes

artículo científico publicado en 2004

Reduction in Na(+) current by angiotensin II is mediated by PKCα in mouse and human-induced pluripotent stem cell-derived cardiomyocytes

artículo científico publicado en 2016

Serum Analyte Profiles Associated With Crohn’s Disease and Disease Location

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Lista de obras de

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

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

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

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

A transcriptome-based approach to identify functional modules within and across primary human immune cells

Associations of autozygosity with a broad range of human phenotypes

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

Common variation in fatty acid metabolic genes and risk of incident sudden cardiac arrest

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

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

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

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

Effect of Sex and Underlying Disease on the Genetic Association of QT Interval and Sudden Cardiac Death

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

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

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

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

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

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

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

Functional screen of inflammatory bowel disease genes reveals key epithelial functions

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

Genome-wide association identifies multiple ulcerative colitis susceptibility loci

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

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

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

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

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

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

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

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

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

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

Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms

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

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

RARgamma acts as a tumor suppressor in mouse keratinocytes

Reduction in Na(+) current by angiotensin II is mediated by PKCα in mouse and human-induced pluripotent stem cell-derived cardiomyocytes

Serum Analyte Profiles Associated With Crohn’s Disease and Disease Location

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

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