List of works - Deborah Smyth

A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes

scientific article

A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region

scientific article

A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3

scientific article

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

scientific article

A method for gene-based pathway analysis using genomewide association study summary statistics reveals nine new type 1 diabetes associations

scientific article

A nurse-led, preventive, psychological intervention to reduce PTSD symptom severity in critically ill patients: the POPPI feasibility study and cluster RCT

A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk

scientific article published on 8 September 2010

A type I interferon transcriptional signature precedes autoimmunity in children genetically at risk for type 1 diabetes.

scientific article

Alloantibodies against low-frequency human platelet antigens do not account for a significant proportion of cases of fetomaternal alloimmune thrombocytopenia: evidence from 1054 cases

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 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1.

scientific 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 gene, TCF7L2, in 13,795 type 1 diabetes cases and control subjects

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

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

scientific article (publication date: February 2005)

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

scientific article (publication date: 29 May 2003)

Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes

scientific article published on 2 July 2007

Capturing the systemic immune signature of a norovirus infection: an n-of-1 case study within a clinical trial.

scientific article published on 18 July 2017

Cells with Treg-specific FOXP3 demethylation but low CD25 are prevalent in autoimmunity

scientific article published on 23 July 2017

Common genetic determinants of vitamin D insufficiency: a genome-wide association study

scientific article

Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes

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

Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics

scientific article

Discovery, linkage disequilibrium and association analyses of polymorphisms of the immune complement inhibitor, decay-accelerating factor gene (DAF/CD55) in type 1 diabetes

scientific article published on 20 April 2006

Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping

scientific article

Effect of a Nurse-Led Preventive Psychological Intervention on Symptoms of Posttraumatic Stress Disorder Among Critically Ill Patients: A Randomized Clinical Trial

scientific article published on 01 February 2019

Epigenetic analysis of regulatory T cells using multiplex bisulfite sequencing.

scientific article published on 7 September 2015

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

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

Follow-up of 1715 SNPs from the Wellcome Trust Case Control Consortium genome-wide association study in type I diabetes families.

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

scientific article

Genetic association of zinc transporter 8 (ZnT8) autoantibodies in type 1 diabetes cases

scientific article

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

scientific article

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

scientific article

Haplotype tag single nucleotide polymorphism analysis of the human orthologues of the rat type 1 diabetes genes Ian4 (Lyp/Iddm1) and Cblb.

scientific article

IL-21 production by CD4+ effector T cells and frequency of circulating follicular helper T cells are increased in type 1 diabetes patients

scientific article

Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes

scientific article published on 25 March 2011

Investigating the utility of combining phi29 whole genome amplification and highly multiplexed single nucleotide polymorphism BeadArray genotyping

scientific article

Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes.

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

scientific article

Multi-parametric flow cytometric and genetic investigation of the peripheral B cell compartment in human type 1 diabetes

scientific article

Natural Variation in Interleukin-2 Sensitivity Influences Regulatory T-Cell Frequency and Function in Individuals With Long-standing Type 1 Diabetes

scientific article published on 29 July 2015

Neonatal and adult recent thymic emigrants produce IL-8 and express complement receptors CR1 and CR2.

scientific article published on 17 August 2017

No Evidence for Association of OAS1 With Type 1 Diabetes in Unaffected Siblings or Type 1 Diabetic Cases

article

No association of multiple type 2 diabetes loci with type 1 diabetes

scientific article published on 20 May 2009

No evidence for association of the TATA-box binding protein glutamine repeat sequence or the flanking chromosome 6q27 region with type 1 diabetes

scientific article published in June 2005

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

scientific article

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

scientific article

Population structure, differential bias and genomic control in a large-scale, case-control association study

scientific article (publication date: November 2005)

Postthymic expansion in human CD4 naive T cells defined by expression of functional high-affinity IL-2 receptors

scientific article published on 15 February 2013

Providing psychological support to people in intensive care: development and feasibility study of a nurse-led intervention to prevent acute stress and long-term morbidity

article

Psychological Outcomes following a nurse-led Preventative Psychological Intervention for critically ill patients (POPPI): protocol for a cluster-randomised clinical trial of a complex intervention.

scientific article published on 8 February 2018

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

scientific article

Reduced expression of IFIH1 is protective for type 1 diabetes

scientific article

Regulatory T Cell Responses in Participants with Type 1 Diabetes after a Single Dose of Interleukin-2: A Non-Randomised, Open Label, Adaptive Dose-Finding Trial

scientific article

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

Sequencing and association analysis of the type 1 diabetes-linked region on chromosome 10p12-q11.

scientific article

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

scientific article

Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes

scientific article

Statistical independence of the colocalized association signals for type 1 diabetes and RPS26 gene expression on chromosome 12q13.

scientific article

The PTPN22 locus and rheumatoid arthritis: no evidence for an effect on risk independent of Arg620Trp

scientific article

The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes

scientific article

The deleted in colorectal carcinoma (DCC) gene 201 R --> G polymorphism: no evidence for genetic association with autoimmune disease

scientific article published in November 2003

The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes

scientific article

Widespread seasonal gene expression reveals annual differences in human immunity and physiology

scientific article published on 12 May 2015

List of works by Deborah Smyth

A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes

A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region

A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3

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

A method for gene-based pathway analysis using genomewide association study summary statistics reveals nine new type 1 diabetes associations

A nurse-led, preventive, psychological intervention to reduce PTSD symptom severity in critically ill patients: the POPPI feasibility study and cluster RCT

A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk

A type I interferon transcriptional signature precedes autoimmunity in children genetically at risk for type 1 diabetes.

Alloantibodies against low-frequency human platelet antigens do not account for a significant proportion of cases of fetomaternal alloimmune thrombocytopenia: evidence from 1054 cases

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 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1.

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 gene, TCF7L2, in 13,795 type 1 diabetes cases and control subjects

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

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

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

Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes

Capturing the systemic immune signature of a norovirus infection: an n-of-1 case study within a clinical trial.

Cells with Treg-specific FOXP3 demethylation but low CD25 are prevalent in autoimmunity

Common genetic determinants of vitamin D insufficiency: a genome-wide association study

Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes

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

Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics

Discovery, linkage disequilibrium and association analyses of polymorphisms of the immune complement inhibitor, decay-accelerating factor gene (DAF/CD55) in type 1 diabetes

Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping

Effect of a Nurse-Led Preventive Psychological Intervention on Symptoms of Posttraumatic Stress Disorder Among Critically Ill Patients: A Randomized Clinical Trial

Epigenetic analysis of regulatory T cells using multiplex bisulfite sequencing.

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.

Experimental aspects of copy number variant assays at CCL3L1

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

Follow-up of 1715 SNPs from the Wellcome Trust Case Control Consortium genome-wide association study in type I diabetes families.

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

Genetic association of zinc transporter 8 (ZnT8) autoantibodies in type 1 diabetes cases

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

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

Haplotype tag single nucleotide polymorphism analysis of the human orthologues of the rat type 1 diabetes genes Ian4 (Lyp/Iddm1) and Cblb.

IL-21 production by CD4+ effector T cells and frequency of circulating follicular helper T cells are increased in type 1 diabetes patients

Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes

Investigating the utility of combining phi29 whole genome amplification and highly multiplexed single nucleotide polymorphism BeadArray genotyping

Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes.

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

Multi-parametric flow cytometric and genetic investigation of the peripheral B cell compartment in human type 1 diabetes

Natural Variation in Interleukin-2 Sensitivity Influences Regulatory T-Cell Frequency and Function in Individuals With Long-standing Type 1 Diabetes

Neonatal and adult recent thymic emigrants produce IL-8 and express complement receptors CR1 and CR2.

No Evidence for Association of OAS1 With Type 1 Diabetes in Unaffected Siblings or Type 1 Diabetic Cases

No association of multiple type 2 diabetes loci with type 1 diabetes

No evidence for association of the TATA-box binding protein glutamine repeat sequence or the flanking chromosome 6q27 region with type 1 diabetes

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

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

Population structure, differential bias and genomic control in a large-scale, case-control association study

Postthymic expansion in human CD4 naive T cells defined by expression of functional high-affinity IL-2 receptors

Providing psychological support to people in intensive care: development and feasibility study of a nurse-led intervention to prevent acute stress and long-term morbidity

Psychological Outcomes following a nurse-led Preventative Psychological Intervention for critically ill patients (POPPI): protocol for a cluster-randomised clinical trial of a complex intervention.

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

Reduced expression of IFIH1 is protective for type 1 diabetes

Regulatory T Cell Responses in Participants with Type 1 Diabetes after a Single Dose of Interleukin-2: A Non-Randomised, Open Label, Adaptive Dose-Finding Trial

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

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

Sequencing and association analysis of the type 1 diabetes-linked region on chromosome 10p12-q11.

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

Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes

Statistical independence of the colocalized association signals for type 1 diabetes and RPS26 gene expression on chromosome 12q13.

The PTPN22 locus and rheumatoid arthritis: no evidence for an effect on risk independent of Arg620Trp

The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes

The deleted in colorectal carcinoma (DCC) gene 201 R --> G polymorphism: no evidence for genetic association with autoimmune disease

The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes

Widespread seasonal gene expression reveals annual differences in human immunity and physiology