Lista de obras - Joanna Howson - Dominio Público Uruguay

A comparison of Cox and logistic regression for use in genome-wide association studies of cohort and case-cohort design.

artículo científico publicado en 2017

A fast and efficient colocalization algorithm for identifying shared genetic risk factors across multiple traits

artículo científico publicado en 2021

A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease

artículo científico publicado en 2016

A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samples

artículo científico publicado en 2014

A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect

scientific article published on 27 June 2007

A robust and efficient method for Mendelian randomization with hundreds of genetic variants

scientific article published on 17 January 2020

A systematic approach to the assessment of known TNF-alpha polymorphisms in Graves' disease.

artículo científico publicado en 2004

A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene

artículo científico publicado en 2007

Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk

artículo científico publicado en 2015

An allele of IKZF1 (Ikaros) conferring susceptibility to childhood acute lymphoblastic leukemia protects against type 1 diabetes ⬇️

artículo científico publicado en 2011

Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus

article

Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.

artículo científico publicado en 2009

Analysis of Polymorphisms of the Interleukin-18 Gene in Type 1 Diabetes and Hardy-Weinberg Equilibrium Testing

article

Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases

artículo científico publicado en 2006

Analysis of the type 2 diabetes-associated single nucleotide polymorphisms in the genes IRS1, KCNJ11, and PPARG2 in type 1 diabetes

artículo científico publicado en 2004

Analysis of the vitamin D receptor gene sequence variants in type 1 diabetes

artículo científico publicado en 2004

Assessing the causal association of glycine with risk of cardio-metabolic diseases

artículo científico publicado en 2019

Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes

artículo científico publicado en 2005

Association analyses based on false discovery rate implicate new loci for coronary artery disease ⬇️

artículo científico

Association analysis of the lymphocyte-specific protein tyrosine kinase (LCK) gene in type 1 diabetes

artículo científico publicado en 2004

Association of IL13 with total IgE: evidence against an inverse association of atopy and diabetes

artículo científico publicado en 2006

Association of intercellular adhesion molecule-1 gene with type 1 diabetes

artículo científico publicado en 2003

Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease

artículo científico publicado en 2003

Author Correction: Genomic risk score offers predictive performance comparable to clinical risk factors for ischaemic stroke

artículo científico publicado en 2020

Bayesian refinement of association signals for 14 loci in 3 common diseases

artículo científico publicado en 2012

Candidate gene association study of solute carrier family 11a members 1 (SLC11A1) and 2 (SLC11A2) genes in Alzheimer's disease

artículo científico publicado en 2005

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

artículo científico publicado en 2016

Common allelic variants of exons 10, 12, and 33 of the thyroglobulin gene are not associated with autoimmune thyroid disease in the United Kingdom

scientific article published on 01 December 2004

Comparison of population- and family-based methods for genetic association analysis in the presence of interacting loci.

artículo científico publicado en 2005

Complete MHC haplotype sequencing for common disease gene mapping

artículo científico publicado en 2004

Confirmation of HLA class II independent type 1 diabetes associations in the major histocompatibility complex including HLA-B and HLA-A.

artículo científico publicado en 2009

Confirmation of novel type 1 diabetes risk loci in families

artículo científico publicado en 2012

Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes

artículo científico publicado en 2014

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

artículo científico publicado en 2020

Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus

scientific article published on 09 March 2022

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2018

Evidence for association of OCTN genes and IBD5 with ulcerative colitis

artículo científico publicado en 2005

Evidence of association with type 1 diabetes in the SLC11A1 gene region.

artículo científico publicado en 2011

Evidence of gene-gene interaction and age-at-diagnosis effects in type 1 diabetes

artículo científico publicado en 2012

Evidence that HLA class I and II associations with type 1 diabetes, autoantibodies to GAD and autoantibodies to IA-2, are distinct.

artículo científico publicado en 2011

Exome chip meta-analysis fine maps causal variants and elucidates the genetic architecture of rare coding variants in smoking and alcohol use

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Experimental aspects of copy number variant assays at CCL3L1

artículo científico publicado en 2009

FUT2 nonsecretor status links type 1 diabetes susceptibility and resistance to infection

artículo científico publicado en 2011

Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms

artículo científico publicado en 2017

Fine mapping, gene content, comparative sequencing, and expression analyses support Ctla4 and Nramp1 as candidates for Idd5.1 and Idd5.2 in the nonobese diabetic mouse.

artículo científico publicado en 2004

Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory diseases

artículo científico publicado en 2013

Genetic analysis of adult-onset autoimmune diabetes

artículo científico publicado en 2011

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scientific article published on 17 September 2018

Genetic analysis of over one million people identifies 535 novel loci for blood pressure

Genetic and functional association of the immune signaling molecule 4-1BB (CD137/TNFRSF9) with type 1 diabetes

artículo científico publicado en 2005

Genetic association analyses of atopic illness and proinflammatory cytokine genes with type 1 diabetes

artículo científico publicado en 2011

Genetic invalidation of Lp-PLA2 as a therapeutic target: Large-scale study of five functional Lp-PLA2-lowering alleles

artículo científico publicado en 2016

Genetic susceptibility to visceral leishmaniasis in The Sudan: linkage and association with IL4 and IFNGR1.

artículo científico publicado en 2003

Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

artículo científico publicado en 2017

Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

artículo científico publicado en 2011

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 MRI markers of cerebral small vessel disease in 42,310 participants

artículo científico publicado en 2020

Genomic risk score offers predictive performance comparable to clinical risk factors for ischaemic stroke

scientific article published on 20 December 2019

HLA class II gene associations in African American type 1 diabetes reveal a protective HLA-DRB1*03 haplotype.

artículo científico publicado en 2013

Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene.

artículo científico publicado en 2003

Identification of a Structurally Distinct CD101 Molecule Encoded in the 950-kb Idd10 Region of NOD Mice

scientific article published on 01 June 2003

Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease

artículo científico publicado en 2017

Interleukin‐10, Polymorphism inSLC11A1(formerlyNRAMP1), and Susceptibility to Tuberculosis

artículo científico publicado en 2002

Lack of association of the Ala(45)Thr polymorphism and other common variants of the NeuroD gene with type 1 diabetes

artículo científico

Linkage analysis of a derived glucose phenotype in the Genetic Analysis Workshop 13 simulated data using a variety of Haseman-Elston based regression methods

artículo científico publicado en 2003

Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A

artículo científico publicado en 2007

Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene

artículo científico publicado en 2011

Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci

artículo científico publicado en 2019

NKG2D-RAE-1 receptor-ligand variation does not account for the NK cell defect in nonobese diabetic mice.

artículo científico publicado en 2008

New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals

artículo científico publicado en 2017

No evidence of association or interaction between the IL4RA, IL4, and IL13 genes in type 1 diabetes

artículo científico publicado en 2005

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

article

PTPN22 Trp620 explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes

artículo científico publicado en 2008

Plasma concentrations of soluble IL-2 receptor α (CD25) are increased in type 1 diabetes and associated with reduced C-peptide levels in young patients.

artículo científico publicado en 2013

Polymorphism in NOD2, Crohn's disease, and susceptibility to pulmonary tuberculosis

artículo científico publicado en 2004

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

artículo científico publicado en 2017

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

article

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scholarly article published in Nature Genetics

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

erratum

Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

artículo científico publicado en 2019

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

artículo científico publicado en 2017

Rare and low-frequency coding variants alter human adult height

artículo científico publicado en 2017

Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

scientific journal article

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

article

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

artículo científico publicado en 2018

Regression mapping of association between the human leukocyte antigen region and Graves disease

artículo científico publicado en 2004

Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus

artículo científico publicado en 2004

Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes

artículo científico publicado en 2007

SLC11A1 (formerly NRAMP1) and susceptibility to visceral leishmaniasis in The Sudan.

artículo científico publicado en 2004

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2017

Sequencing-based genotyping and association analysis of the MICA and MICB genes in type 1 diabetes.

artículo científico publicado en 2008

Shared and distinct genetic variants in type 1 diabetes and celiac disease

artículo científico publicado en 2008

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease ⬇️

artículo científico publicado en 2017

Testing the possible negative association of type 1 diabetes and atopic disease by analysis of the interleukin 4 receptor gene.

artículo científico publicado en 2003

The Bangladesh Risk of Acute Vascular Events (BRAVE) Study: objectives and design

artículo científico publicado en 2015

The genetic architecture of type 2 diabetes

artículo científico publicado en 2016

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

artículo científico publicado en 2016

Trans-ethnic association study of blood pressure determinants in over 750,000 individuals

scientific article published on 21 December 2018

Lista de obras de Joanna Howson

A comparison of Cox and logistic regression for use in genome-wide association studies of cohort and case-cohort design.

A fast and efficient colocalization algorithm for identifying shared genetic risk factors across multiple traits

A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease

A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samples

A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect

A robust and efficient method for Mendelian randomization with hundreds of genetic variants

A systematic approach to the assessment of known TNF-alpha polymorphisms in Graves' disease.

A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene

Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk

An allele of IKZF1 (Ikaros) conferring susceptibility to childhood acute lymphoblastic leukemia protects against type 1 diabetes ⬇️

Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus

Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.

Analysis of Polymorphisms of the Interleukin-18 Gene in Type 1 Diabetes and Hardy-Weinberg Equilibrium Testing

Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases

Analysis of the type 2 diabetes-associated single nucleotide polymorphisms in the genes IRS1, KCNJ11, and PPARG2 in type 1 diabetes

Analysis of the vitamin D receptor gene sequence variants in type 1 diabetes

Assessing the causal association of glycine with risk of cardio-metabolic diseases

Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes

Association analyses based on false discovery rate implicate new loci for coronary artery disease ⬇️

Association analysis of the lymphocyte-specific protein tyrosine kinase (LCK) gene in type 1 diabetes

Association of IL13 with total IgE: evidence against an inverse association of atopy and diabetes

Association of intercellular adhesion molecule-1 gene with type 1 diabetes

Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease

Author Correction: Genomic risk score offers predictive performance comparable to clinical risk factors for ischaemic stroke

Bayesian refinement of association signals for 14 loci in 3 common diseases

Candidate gene association study of solute carrier family 11a members 1 (SLC11A1) and 2 (SLC11A2) genes in Alzheimer's disease

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

Common allelic variants of exons 10, 12, and 33 of the thyroglobulin gene are not associated with autoimmune thyroid disease in the United Kingdom

Comparison of population- and family-based methods for genetic association analysis in the presence of interacting loci.

Complete MHC haplotype sequencing for common disease gene mapping

Confirmation of HLA class II independent type 1 diabetes associations in the major histocompatibility complex including HLA-B and HLA-A.

Confirmation of novel type 1 diabetes risk loci in families

Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Evidence for association of OCTN genes and IBD5 with ulcerative colitis

Evidence of association with type 1 diabetes in the SLC11A1 gene region.

Evidence of gene-gene interaction and age-at-diagnosis effects in type 1 diabetes

Evidence that HLA class I and II associations with type 1 diabetes, autoantibodies to GAD and autoantibodies to IA-2, are distinct.

Exome chip meta-analysis fine maps causal variants and elucidates the genetic architecture of rare coding variants in smoking and alcohol use

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

Experimental aspects of copy number variant assays at CCL3L1

FUT2 nonsecretor status links type 1 diabetes susceptibility and resistance to infection

Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms

Fine mapping, gene content, comparative sequencing, and expression analyses support Ctla4 and Nramp1 as candidates for Idd5.1 and Idd5.2 in the nonobese diabetic mouse.

Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory diseases

Genetic analysis of adult-onset autoimmune diabetes

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

Genetic analysis of over one million people identifies 535 novel loci for blood pressure

Genetic and functional association of the immune signaling molecule 4-1BB (CD137/TNFRSF9) with type 1 diabetes

Genetic association analyses of atopic illness and proinflammatory cytokine genes with type 1 diabetes

Genetic invalidation of Lp-PLA2 as a therapeutic target: Large-scale study of five functional Lp-PLA2-lowering alleles

Genetic susceptibility to visceral leishmaniasis in The Sudan: linkage and association with IL4 and IFNGR1.

Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

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

Genome-wide association study of MRI markers of cerebral small vessel disease in 42,310 participants

Genomic risk score offers predictive performance comparable to clinical risk factors for ischaemic stroke

HLA class II gene associations in African American type 1 diabetes reveal a protective HLA-DRB1*03 haplotype.

Haplotype structure, LD blocks, and uneven recombination within the LRP5 gene.

Identification of a Structurally Distinct CD101 Molecule Encoded in the 950-kb Idd10 Region of NOD Mice

Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease

Interleukin‐10, Polymorphism inSLC11A1(formerlyNRAMP1), and Susceptibility to Tuberculosis

Lack of association of the Ala(45)Thr polymorphism and other common variants of the NeuroD gene with type 1 diabetes

Linkage analysis of a derived glucose phenotype in the Genetic Analysis Workshop 13 simulated data using a variety of Haseman-Elston based regression methods

Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A

Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene

Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci

NKG2D-RAE-1 receptor-ligand variation does not account for the NK cell defect in nonobese diabetic mice.

New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals

No evidence of association or interaction between the IL4RA, IL4, and IL13 genes in type 1 diabetes

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

PTPN22 Trp620 explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes

Plasma concentrations of soluble IL-2 receptor α (CD25) are increased in type 1 diabetes and associated with reduced C-peptide levels in young patients.

Polymorphism in NOD2, Crohn's disease, and susceptibility to pulmonary tuberculosis

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

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits