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List of works by Joanna Howson

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

scientific article published on 03 May 2017

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

scientific article published in 2021

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

scientific article published on June 2016

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

scientific article

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.

scientific article

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

scientific article published on 14 February 2007

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

scientific article

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

scientific article

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.

scientific article

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

scientific article

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

scientific article published in March 2004

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

scientific article published in October 2004

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

scientific article published on 05 March 2019

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

scientific article (publication date: February 2005)

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

scientific article published on 17 July 2017

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

scientific article

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

scientific article published on 3 April 2006

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

scientific article published on November 2003

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

scientific article (publication date: 29 May 2003)

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

scientific article published on 20 February 2020

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

scientific article published on 28 October 2012

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

scientific article

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

scientific article published on 2 March 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.

scientific article published in July 2005

Complete MHC haplotype sequencing for common disease gene mapping

scientific article published on 12 May 2004

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

scientific article published on February 2009

Confirmation of novel type 1 diabetes risk loci in families

scientific article

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

scientific article

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

scientific article published on 23 November 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

scientific article published on 23 January 2018

Evidence for association of OCTN genes and IBD5 with ulcerative colitis

scientific article published on 16 December 2005

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 06 December 2018

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

scientific article published on 30 October 2017

Experimental aspects of copy number variant assays at CCL3L1

scientific article

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

scientific article

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

scientific article published on 22 May 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.

scientific article

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

scientific article

Genetic analysis of adult-onset autoimmune diabetes

scientific article

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

scientific article published on August 2005

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

scientific article

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

scientific article

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

scientific article published in July 2003

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

scientific article published on 30 January 2017

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

scientific article

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

scientific article

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

scientific article published on 01 May 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.

scientific article published on 21 March 2013

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

scientific article published on May 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

scientific article published on 4 September 2017

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

scientific article published on 22 November 2002

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

scientific article published on April 2004

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

scientific article

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

scientific article

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

scientific article published on 11 October 2011

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

scientific article published on 07 January 2019

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

scientific article published on November 2008

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

scientific article published in October 2017

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

scientific article

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

scientific article

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.

scientific article

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

scientific article published in June 2004

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

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

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

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

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

scientific article published on 29 June 2017

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 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

scientific article published on 9 April 2018

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

scientific article published on 22 November 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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 19 December 2017

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

scientific article

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

scientific article

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

scientific article published on February 2017

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

scientific article published in October 2003

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

scientific article published in May 2015

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

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

scientific article published on 12 September 2016

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

scientific article published on 21 December 2018

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