Lista de obras - Jeffrey C Barrett - Dominio Público Uruguay

A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

artículo científico publicado en 2007

A genome-wide association study of anorexia nervosa

artículo científico publicado en 2014

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

artículo científico publicado en 2016

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

An integrated haplotype map of the human major histocompatibility complex

artículo científico publicado en 2003

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

artículo científico publicado en 2021

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci

artículo científico publicado en 2016

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

artículo científico publicado en 2013

Assessing transmissibility of SARS-CoV-2 lineage B.1.1.7 in England

artículo científico publicado en 2021

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

artículo científico publicado en 2015

Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3.

artículo científico publicado en 2010

Association of Genetic Variants in NUDT15 With Thiopurine-Induced Myelosuppression in Patients With Inflammatory Bowel Disease

scientific article published on 01 February 2019

Association of PTPN22 haplotypes with Graves' disease

scientific article published on 05 December 2006

Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease.

artículo científico publicado en 2009

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

artículo científico publicado en 2007

Biases and reconciliation in estimates of linkage disequilibrium in the human genome

artículo científico publicado en 2006

Characterization of expression quantitative trait loci in the human colon

artículo científico publicado en 2015

Class II HLA interactions modulate genetic risk for multiple sclerosis

artículo científico publicado en 2015

Common deletion polymorphisms in the human genome.

artículo científico publicado en 2006

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

artículo científico publicado en 2018

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

scholarly article

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

artículo científico publicado en 2009

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies

artículo científico publicado en 2008

Confirmation of the novel association at the BTNL2 locus with ulcerative colitis

scientific article published on 29 July 2009

Confirmation of the role of ATG16l1 as a Crohnʼs disease susceptibility gene

article

Correction: Imputation-Based Meta-Analysis of Severe Malaria in Three African Populations.

artículo científico publicado en 2013

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

De novo mutations in regulatory elements cause neurodevelopmental disorders

scholarly article

De novo mutations in regulatory elements in neurodevelopmental disorders.

artículo científico publicado en 2018

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis

artículo científico publicado en 2012

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

artículo científico publicado en 2011

Designing an intuitive web application for drug discovery scientists

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

artículo científico publicado en 2015

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

artículo científico publicado en 2016

Distribution and medical impact of loss-of-function variants in the Finnish founder population

artículo científico publicado en 2014

Effectiveness of COVID-19 vaccines against the Omicron (B.1.1.529) variant of concern

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: Multiple common variants for celiac disease influencing immune gene expression

article

Erratum: Corrigendum: The zebrafish reference genome sequence and its relationship to the human genome

scientific article published in Nature

Evaluating coverage of genome-wide association studies

artículo científico publicado en 2006

Evaluating the effects of imputation on the power, coverage, and cost efficiency of genome-wide SNP platforms

artículo científico publicado en 2008

Evidence for 28 genetic disorders discovered by combining healthcare and research data

artículo científico publicado en 2020

Evoker: a visualization tool for genotype intensity data

artículo científico publicado en 2010

Exome sequencing and genotyping identify a rare variant in NLRP7 gene associated with ulcerative colitis

article

Exome sequencing and genotyping identify a rare variant in NLRP7 gene associated with ulcerative colitis.

artículo científico publicado en 2017

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

artículo científico publicado en 2019

Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.

artículo científico publicado en 2017

Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers

artículo científico publicado en 2015

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

artículo científico publicado en 2017

From HLA association to function

Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families

artículo científico publicado en 2016

Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer

artículo científico publicado en 2015

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

artículo científico publicado en 2008

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

artículo científico publicado en 2014

Genetic risk prediction in complex disease

artículo científico publicado en 2011

Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania

artículo científico publicado en 2014

Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

scholarly article

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

artículo científico publicado en 2008

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

artículo científico publicado en 2009

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease

article

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

artículo científico publicado en 2017

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

artículo científico publicado en 2010

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

artículo científico publicado en 2010

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Genomic reconstruction of the SARS-CoV-2 epidemic in England

artículo científico publicado en 2021

Guidelines for investigating causality of sequence variants in human disease

artículo científico publicado en 2014

HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

artículo científico publicado en 2016

HLA-DQA1*05 Carriage Associated With Development of Anti-Drug Antibodies to Infliximab and Adalimumab in Patients With Crohn's Disease

artículo científico publicado en 2019

HLA-DQA1*05 is associated with the development of antibodies to anti-TNF therapy

article

Haploview: Visualization and analysis of SNP genotype data

artículo científico publicado en 2009

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

High-throughput and quantitative genome-wide messenger RNA sequencing for molecular phenotyping

artículo científico publicado en 2015

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

artículo científico publicado en 2012

How next-generation sequencing is transforming complex disease genetics

artículo científico publicado en 2012

Imputation of low-frequency variants using the HapMap3 benefits from large, diverse reference sets

artículo científico publicado en 2011

Imputation-based meta-analysis of severe malaria in three African populations

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship

artículo científico publicado en 2008

Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis

scholarly article

Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis

artículo científico publicado en 2019

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

artículo científico publicado en 2018

Marker selection for genetic case-control association studies

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

Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci

artículo científico publicado en 2008

Misuse of hierarchical linear models overstates the significance of a reported association between OXTR and prosociality

artículo científico publicado en 2012

Multiomics Analyses to Deliver the Most Effective Treatment to Every Patient With Inflammatory Bowel Disease

artículo científico publicado en 2018

Multiple common variants for celiac disease influencing immune gene expression

artículo científico publicado en 2010

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

artículo científico publicado en 2013

Olorin: combining gene flow with exome sequencing in large family studies of complex disease

artículo científico publicado en 2012

Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics

artículo científico publicado en 2020

Open Targets Platform: new developments and updates two years on

artículo científico publicado en 2019

Open Targets: a platform for therapeutic target identification and validation

artículo científico publicado en 2016

Pathogenicity and selective constraint on variation near splice sites

scholarly article published 30 January 2018

Pathogenicity and selective constraint on variation near splice sites

scientific article published on 26 December 2018

Pervasive sharing of genetic effects in autoimmune disease

artículo científico publicado en 2011

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

artículo científico publicado en 2013

Polymorphisms in the tumour necrosis factor gene are not associated with severity of inflammatory polyarthritis

artículo científico publicado en 2004

Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes

artículo científico publicado en 2015

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

scholarly article

Quantifying the contribution of recessive coding variation to developmental disorders

artículo científico publicado en 2018

Quantifying the contribution of recessive coding variation to developmental disorders

scholarly article

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

artículo científico publicado en 2011

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

artículo científico publicado en 2016

Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes

artículo científico publicado en 2007

Response to 'Predicting the diagnosis of autism spectrum disorder using gene pathway analysis'.

artículo científico publicado en 2013

Returning genome sequences to research participants: Policy and practice

artículo científico publicado en 2017

Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility

artículo científico publicado en 2007

Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease.

artículo científico publicado en 2018

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

artículo científico publicado en 2020

Strategies for fine-mapping complex traits

artículo científico

Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration

artículo científico publicado en 2015

Synthetic associations are unlikely to account for many common disease genome-wide association signals

artículo científico publicado en 2011

Synthetic associations in the context of genome-wide association scan signals

artículo científico publicado en 2010

The UK10K project identifies rare variants in health and disease

artículo científico publicado en 2015

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability.

artículo científico publicado en 2017

The intermediate filament protein, vimentin, is a regulator of NOD2 activity

artículo científico publicado en 2013

To what extent do scans of non-synonymous SNPs complement denser genome-wide association studies?

Transmission of SARS-CoV-2 Lineage B.1.1.7 in England: Insights from linking epidemiological and genetic data

artículo científico publicado en 2021

Understanding inflammatory bowel disease via immunogenetics

artículo científico publicado en 2015

Using genetic prediction from known complex disease Loci to guide the design of next-generation sequencing experiments

artículo científico publicado en 2013

Using human genetics to make new medicines.

artículo científico publicado en 2015

optiCall: a robust genotype-calling algorithm for rare, low-frequency and common variants

artículo científico publicado en 2012

Lista de obras de Jeffrey C Barrett

A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

A genome-wide association study of anorexia nervosa

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

A reference panel of 64,976 haplotypes for genotype imputation

An integrated haplotype map of the human major histocompatibility complex

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

Assessing transmissibility of SARS-CoV-2 lineage B.1.1.7 in England

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3.

Association of Genetic Variants in NUDT15 With Thiopurine-Induced Myelosuppression in Patients With Inflammatory Bowel Disease

Association of PTPN22 haplotypes with Graves' disease

Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease.

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

Biases and reconciliation in estimates of linkage disequilibrium in the human genome

Characterization of expression quantitative trait loci in the human colon

Class II HLA interactions modulate genetic risk for multiple sclerosis

Common deletion polymorphisms in the human genome.

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

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

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies

Confirmation of the novel association at the BTNL2 locus with ulcerative colitis

Confirmation of the role of ATG16l1 as a Crohnʼs disease susceptibility gene

Correction: Imputation-Based Meta-Analysis of Severe Malaria in Three African Populations.

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

De novo mutations in regulatory elements cause neurodevelopmental disorders

De novo mutations in regulatory elements in neurodevelopmental disorders.

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

Designing an intuitive web application for drug discovery scientists

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Distribution and medical impact of loss-of-function variants in the Finnish founder population

Effectiveness of COVID-19 vaccines against the Omicron (B.1.1.529) variant of concern

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

Erratum: Corrigendum: Multiple common variants for celiac disease influencing immune gene expression

Erratum: Corrigendum: The zebrafish reference genome sequence and its relationship to the human genome

Evaluating coverage of genome-wide association studies

Evaluating the effects of imputation on the power, coverage, and cost efficiency of genome-wide SNP platforms

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Evoker: a visualization tool for genotype intensity data

Exome sequencing and genotyping identify a rare variant in NLRP7 gene associated with ulcerative colitis

Exome sequencing and genotyping identify a rare variant in NLRP7 gene associated with ulcerative colitis.

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.

Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers

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

From HLA association to function

Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families

Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Genetic risk prediction in complex disease

Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania

Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

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

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

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

Genomic reconstruction of the SARS-CoV-2 epidemic in England

Guidelines for investigating causality of sequence variants in human disease

HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

HLA-DQA1*05 Carriage Associated With Development of Anti-Drug Antibodies to Infliximab and Adalimumab in Patients With Crohn's Disease

HLA-DQA1*05 is associated with the development of antibodies to anti-TNF therapy

Haploview: Visualization and analysis of SNP genotype data

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

High-throughput and quantitative genome-wide messenger RNA sequencing for molecular phenotyping

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

How next-generation sequencing is transforming complex disease genetics

Imputation of low-frequency variants using the HapMap3 benefits from large, diverse reference sets

Imputation-based meta-analysis of severe malaria in three African populations

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

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