List of works by Tom R. Gaunt

A Methylome-Wide Association Study of Trajectories of Oppositional Defiant Behaviors and Biological Overlap With Attention Deficit Hyperactivity Disorder

scientific article published on 20 September 2017

A Protein Domain and Family Based Approach to Rare Variant Association Analysis

scientific article

A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array

scientific article published on 28 November 2012

A multi-cohort study of polymorphisms in the GH/IGF axis and physical capability: the HALCyon programme

scientific article

A pathway-based data integration framework for prediction of disease progression

scientific article

A pathway-centric approach to rare variant association analysis

scientific article published on 31 August 2016

A study of relationships between single nucleotide polymorphisms from the growth hormone-insulin-like growth factor axis and bone mass: the Hertfordshire cohort study

scientific article

A transcriptome-wide Mendelian randomization study to uncover tissue-dependent regulatory mechanisms across the human phenome

A transcriptome-wide Mendelian randomization study to uncover tissue-dependent regulatory mechanisms across the human phenome

scientific article published on 10 January 2020

Adult height, coronary heart disease and stroke: a multi-locus Mendelian randomization meta-analysis

scientific article published in December 2016

Age-related DNA methylation changes are tissue-specific with ELOVL2 promoter methylation as exception.

scientific article

Alcohol dehydrogenase type 1C (ADH1C) variants, alcohol consumption traits, HDL-cholesterol and risk of coronary heart disease in women and men: British Women's Heart and Health Study and Caerphilly cohorts

scientific article

Amplification ratio control system for copy number variation genotyping

scientific article

An epigenome-wide association meta-analysis of prenatal maternal stress in neonates: A model approach for replication

scientific article published on 18 February 2016

An expectation-maximization program for determining allelic spectrum from CNV data (CoNVEM): insights into population allelic architecture and its mutational history

scientific article

An integrative approach to predicting the functional effects of non-coding and coding sequence variation

scientific article published on 11 January 2015

An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome

scientific article

Analysis of potential genomic confounding in genetic association studies and an online genomic confounding browser (GCB).

scientific article published in November 2011

Angiotensin II type I receptor gene polymorphism: anthropometric and metabolic syndrome traits

scientific article

Apolipoprotein E genotype, cardiovascular biomarkers and risk of stroke: systematic review and meta-analysis of 14,015 stroke cases and pooled analysis of primary biomarker data from up to 60,883 individuals

scientific article

Appraising the causal relevance of DNA methylation for risk of lung cancer

Assessing the role of insulin-like growth factors and binding proteins in prostate cancer using Mendelian randomization: Genetic variants as instruments for circulating levels

scientific article published on 26 May 2016

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study ⬇️

scientific article published on 23 February 2017

Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data

scientific article

Association of copy number variation across the genome with neuropsychiatric traits in the general population

scientific article published on 24 April 2018

Availability of public databases for triangulation of findings

scientific article published on 23 July 2019

Blood pressure loci identified with a gene-centric array

scientific article

C-reactive protein and its role in metabolic syndrome: mendelian randomisation study

scientific article published in December 2005

CScape: a tool for predicting oncogenic single-point mutations in the cancer genome.

scientific article published on 14 September 2017

Canonical correlation analysis for gene-based pleiotropy discovery

scientific article

Cardiometabolic phenotypes and mitochondrial DNA copy number in two cohorts of UK women

scientific article published on 15 August 2017

Causal Associations of Adiposity and Body Fat Distribution with Coronary Heart Disease, Stroke Subtypes and Type 2 Diabetes: A Mendelian Randomization Analysis

scientific article

Cohort Profile: Pregnancy And Childhood Epigenetics (PACE) Consortium

scientific article published on 13 September 2017

Collapsed methylation quantitative trait loci analysis for low frequency and rare variants

scientific article published on 24 August 2016

Combined analysis of CHRNA5, CHRNA3 and CYP2A6 in relation to adolescent smoking behaviour

article

Comment on: Marchand and Polychronakos (2007) Evaluation of Polymorphic Splicing in the Mechanism of the Association of the Insulin Gene with Diabetes: Diabetes 56:709 713

scientific article published on 28 August 2007

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Complexity of a complex trait locus: HP, HPR, haemoglobin and cholesterol

scientific article

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

Copy number variations and cognitive phenotypes in unselected populations

scientific article

Correction: Population Genomics of Cardiometabolic Traits: Design of the University College London-London School of Hygiene and Tropical Medicine-Edinburgh-Bristol (UCLEB) Consortium.

scientific article published on 24 September 2013

Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool 'CubeX'

scientific article

DNA Methylation and BMI: Investigating Identified Methylation Sites at HIF3A in a Causal Framework.

scientific article published on 9 February 2016

DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis

scientific article published on 30 March 2016

DNA methylation and substance-use risk: a prospective, genome-wide study spanning gestation to adolescence.

scientific article published on 06 December 2016

DNA methylation derived systemic inflammation indices are associated with head and neck cancer development and survival

article published in 2018

Data Resource Profile: Accessible Resource for Integrated Epigenomic Studies (ARIES).

scientific article published on 19 May 2015

Developing the WCRF International/University of Bristol Methodology for Identifying and Carrying Out Systematic Reviews of Mechanisms of Exposure-Cancer Associations

scientific article

Diagnosis of Coronary Heart Diseases Using Gene Expression Profiling; Stable Coronary Artery Disease, Cardiac Ischemia with and without Myocardial Necrosis

scientific article

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

scientific article published on 26 September 2016

Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals

scientific article published on 24 July 2017

Does milk intake promote prostate cancer initiation or progression via effects on insulin-like growth factors (IGFs)? A systematic review and meta-analysis

scientific article

ERRATUM: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

article by Matthew B. Lanktree et al published June 2012 in American Journal of Human Genetics

Epigenetic profiling of ADHD symptoms trajectories: a prospective, methylome-wide study

scientific article published on 24 May 2016

Epigenome-wide association of DNA methylation markers in peripheral blood from Indian Asians and Europeans with incident type 2 diabetes: a nested case-control study

scientific article

Epigenome-wide association study of asthma and wheeze in childhood and adolescence

scientific article published on 13 October 2017

Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity

scientific article published on 21 December 2016

Erratum: Whole-genome sequence-based analysis of thyroid function

scientific article published on 20 May 2015

Estimating the Frequency of Single Point Driver Mutations across Common Solid Tumours

scientific article published on 17 September 2019

Exploiting horizontal pleiotropy to search for causal pathways within a Mendelian randomization framework

scientific article published on 21 February 2020

FATHMM-XF: accurate prediction of pathogenic point mutations via extended features

scientific article published on 5 September 2017

Four genetic loci influencing electrocardiographic indices of left ventricular hypertrophy

scientific article published on 30 September 2011

Frequency of KLK3 gene deletions in the general population

scientific article published on 23 August 2016

From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula

scientific article published on 2 March 2012

Functional Analysis of the Coronary Heart Disease Risk Locus on Chromosome 21q22.

scientific article

GTB - an online genome tolerance browser

scientific article

Gene-Centric Analysis Identifies Variants Associated With Interleukin-6 Levels and Shared Pathways With Other Inflammation Markers

article

Gene-centric association signals for haemostasis and thrombosis traits identified with the HumanCVD BeadChip

scientific article published on 29 August 2013

Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip

scientific article

Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations

scientific article published on 17 December 2013

Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci

scientific article published on 20 February 2014

Genetic variants associated with Von Willebrand factor levels in healthy men and women identified using the HumanCVD BeadChip

scientific article published on 28 April 2011

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

scientific article published on 6 October 2011

Genome-wide data-mining of candidate human splice translational efficiency polymorphisms (STEPs) and an online database

scientific article

Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels

scientific article published on February 2016

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

scientific article

Genotype of galectin 2 (LGALS2) is associated with insulin-glucose profile in the British Women's Heart and Health Study.

scientific article

HAPRAP: a haplotype-based iterative method for statistical fine mapping using GWAS summary statistics

scientific article published on September 2016

HIPred: an integrative approach to predicting haploinsufficient genes

scientific article published on 30 January 2017

HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials

scientific article published on 24 September 2014

Haplotype of growth hormone and angiotensin I-converting enzyme genes, serum angiotensin I-converting enzyme and ventricular growth: pathway inference in pharmacogenetics

article

Haplotypic analyses of the IGF2-INS-TH gene cluster in relation to cardiovascular risk traits

scientific article published on 28 January 2004

Haptoglobin duplicon, hemoglobin, and vitamin C: analyses in the british women's heart and health study and Caerphilly prospective study

scientific article published on 30 November 2014

Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies

scientific article published on 6 January 2009

Homogeneous assay of rs4343, an ACE I/D proxy, and an analysis in the British Women's Heart and Health Study (BWHHS).

scientific article published on January 2008

Hypertensive Disorders of Pregnancy and DNA Methylation in Newborns

scientific article published on 24 June 2019

Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data

scientific article published on 21 January 2019

Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process.

scientific article published on 06 April 2015

Identifying drug targets for neurological and psychiatric disease via genetics and the brain transcriptome

scientific article published on 08 January 2021

Identifying low density lipoprotein cholesterol associated variants in the Annexin A2 (ANXA2) gene

scientific article

Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions

scientific article

Incorporating Non-Coding Annotations into Rare Variant Analysis

scientific article

Inflammation-related epigenetic risk and child and adolescent mental health: A prospective study from pregnancy to middle adolescence

scientific article published on 01 August 2018

Influence of adiposity-related genetic markers in a population of saudi arabians where other variables influencing obesity may be reduced

scientific article

Influence of common genetic variation on blood lipid levels, cardiovascular risk, and coronary events in two British prospective cohort studies

scientific article published on 13 September 2012

Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip

scientific article published on 8 November 2012

LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis.

scientific article

Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci.

scientific article

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci

scientific article

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci

scientific article

Late life metabolic syndrome, early growth, and common polymorphism in the growth hormone and placental lactogen gene cluster

scientific article published in November 2004

Leveraging brain cortex-derived molecular data to elucidate epigenetic and transcriptomic drivers of complex traits and disease

Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array

scientific article

Loci influencing blood pressure identified using a cardiovascular gene-centric array

scientific article published on 8 January 2013

Loci influencing blood pressure identified using a cardiovascular gene-centric array.

scientific article

Longitudinal analysis of DNA methylation associated with birth weight and gestational age.

scientific article published on 13 April 2015

Longitudinal analysis strategies for modelling epigenetic trajectories

scientific article published on 16 February 2018

MELODI: Mining Enriched Literature Objects to Derive Intermediates

scientific article published on 12 January 2018

MIDAS: software for analysis and visualisation of interallelic disequilibrium between multiallelic markers

scientific article

Manual 768 or 384 well microplate gel 'dry' electrophoresis for PCR checking and SNP genotyping

scientific article

Maternal eating disorders affect offspring cord blood DNA methylation: a prospective study

scientific article published on 27 October 2017

Maternal pre-pregnancy BMI and gestational weight gain, offspring DNA methylation and later offspring adiposity: findings from the Avon Longitudinal Study of Parents and Children.

scientific article

MeltMADGE for mutation scanning of specific genes in population studies

scientific article published on 21 October 2010

Mendelian Randomisation study of the influence of eGFR on coronary heart disease

scientific article published on 24 June 2016

Mendelian Randomization Analysis Identifies CpG Sites as Putative Mediators for Genetic Influences on Cardiovascular Disease Risk.

scientific article published in October 2017

Mendelian randomization of blood lipids for coronary heart disease

scientific article

Mendelian randomization studies do not support a role for raised circulating triglyceride levels influencing type 2 diabetes, glucose levels, or insulin resistance

scientific article

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

scientific article

Metabolic Characterization of a Rare Genetic Variation Within APOC3 and Its Lipoprotein Lipase-Independent Effects

scientific article published on 25 April 2016

Metabolic Profiling of Adiponectin Levels in Adults: Mendelian Randomization Analysis

scientific article published in December 2017

Metabolic profiling of adiponectin levels in adults: Mendelian randomization analysis

scientific article published on 13 April 2017

Metabolite profiling and cardiovascular event risk: a prospective study of 3 population-based cohorts

scientific article

Molecular and population analysis of natural selection on the human haptoglobin duplication

scientific article published on 21 May 2012

Molecular genetics of human growth hormone, insulin-like growth factors and their pathways in common disease

scientific article published on 30 May 2007

Mosaic structural variation in children with developmental disorders

scientific article

Multi-ancestry Mendelian randomization of omics traits revealing drug targets of COVID-19 severity

scientific article published in 2022

Neonatal DNA methylation and early-onset conduct problems: A genome-wide, prospective study

scientific article published on 09 June 2017

Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.

scientific article

Null mutation in human ciliary neurotrophic factor gene confers higher body mass index in males.

scientific article published in November 2002

PhenoSpD: an integrated toolkit for phenotypic correlation estimation and multiple testing correction using GWAS summary statistics

scientific article published in August 2018

Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases

scientific article published on 07 September 2020

Physical activity phenotyping with activity bigrams, and their association with BMI.

scientific article

Plasma urate concentration and risk of coronary heart disease: a Mendelian randomisation analysis

scientific article published on 15 January 2016

Polymorphisms in the interleukin-4 and interleukin-4 receptor alpha chain genes confer susceptibility to asthma and atopy in a Caucasian population.

scientific article published in August 2003

Population genomics of cardiometabolic traits: design of the University College London-London School of Hygiene and Tropical Medicine-Edinburgh-Bristol (UCLEB) Consortium

scientific article (publication date: 2013)

Population mutation scanning of human GHR by meltMADGE and identification of a paucimorphic variant.

scientific article

Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult males

scientific article published in July 2001

Predicting the Pathogenic Impact of Sequence Variation in the Human Genome

scientific article

Predicting the functional consequences of cancer-associated amino acid substitutions

scientific article

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

scientific article published on 2 November 2012

Prenatal and early life influences on epigenetic age in children: a study of mother-offspring pairs from two cohort studies

scientific article published on 5 November 2015

Prenatal exposure to maternal cigarette smoking and DNA methylation: epigenome-wide association in a discovery sample of adolescents and replication in an independent cohort at birth through 17 years of age.

scientific article

Prenatal exposure to maternal smoking and offspring DNA methylation across the lifecourse: findings from the Avon Longitudinal Study of Parents and Children (ALSPAC).

scientific article

Prenatal unhealthy diet, insulin-like growth factor 2 gene (IGF2) methylation, and attention deficit hyperactivity disorder symptoms in youth with early-onset conduct problems

scientific article published on 18 August 2016

Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC

scientific article

Psychosocial adversity and socioeconomic position during childhood and epigenetic age: analysis of two prospective cohort studies.

scientific article published on 22 January 2018

Quantitated transcript haplotypes (QTH) ofAGTR1, reduced abundance of mRNA haplotypes containing 1166C (rs5186:A>C), and relevance to metabolic syndrome traits

article

Questioning INS VNTR role in obesity and diabetes: subclasses tag IGF2-INS-TH haplotypes; and -23HphI as a STEP (splicing and translational efficiency polymorphism)

scientific article published in December 2006

Ranking non-synonymous single nucleotide polymorphisms based on disease concepts

scientific article

Refined association mapping for a quantitative trait: weight in the H19-IGF2-INS-TH region

scientific article published in November 2006

Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans

scientific article published on 09 June 2016

Replication of IGF2-INS-TH*5 haplotype effect on obesity in older men and study of related phenotypes

scientific article

Role of DNA Methylation in Type 2 Diabetes Etiology: Using Genotype as a Causal Anchor

scientific article published on 28 February 2017

Searching for the causal effects of body mass index in over 300 000 participants in UK Biobank, using Mendelian randomization

scientific article published in February 2019

Secretory phospholipase A(2)-IIA and cardiovascular disease: a mendelian randomization study

scientific article published on 31 July 2013

Separating the direct effects of traits on atherosclerotic cardiovascular disease from those mediated by type 2 diabetes

scientific article published in 2022

Sequential sentinel SNP Regional Association Plots (SSS-RAP): an approach for testing independence of SNP association signals using meta-analysis data

scientific article

Sex-associated autosomal DNA methylation differences are wide-spread and stable throughout childhood

Sixty-five common genetic variants and prediction of type 2 diabetes

scientific article published on 4 December 2014

Smoking, DNA Methylation, and Lung Function: a Mendelian Randomization Analysis to Investigate Causal Pathways

scientific article published on 20 February 2020

Software Application Profile: PHESANT: a tool for performing automated phenome scans in UK Biobank.

scientific article published on 5 October 2017

Systematic identification of genetic influences on methylation across the human life course

scientific article published on 31 March 2016

TAS2R38 (phenylthiocarbamide) haplotypes, coronary heart disease traits, and eating behavior in the British Women's Heart and Health Study

article

Texture Classification Using Kernel-Based Techniques

scientific article published in 2013

Texture analysis in gel electrophoresis images using an integrative kernel-based approach.

scientific article

Texture classification using feature selection and kernel-based techniques

article published in 2015

The MR-Base platform supports systematic causal inference across the human phenome.

scientific article published on 30 May 2018

The association of C-reactive protein and CRP genotype with coronary heart disease: findings from five studies with 4,610 cases amongst 18,637 participants

scientific article published on 20 August 2008

The association of the PON1 Q192R polymorphism with complications and outcomes of pregnancy: findings from the British Women's Heart and Health cohort study

article

The association of the PON1 Q192R polymorphism with coronary heart disease: findings from the British Women's Heart and Health cohort study and a meta-analysis

scientific article

The association of the paraoxonase (PON1) Q192R polymorphism with depression in older women: findings from the British Women's Heart and Health Study

scientific article published on January 2007

The effects of height and BMI on prostate cancer incidence and mortality: a Mendelian randomization study in 20,848 cases and 20,214 controls from the PRACTICAL consortium

scientific article

The epigenetic clock and physical development during childhood and adolescence: longitudinal analysis from a UK birth cohort.

scientific article published on 15 January 2017

The relationship between plasma angiopoietin-like protein 4 levels, angiopoietin-like protein 4 genotype, and coronary heart disease risk

scientific article published on 9 September 2010

The variant call format provides efficient and robust storage of GWAS summary statistics

scientific article published on 13 January 2021

Variants in the human insulin gene that affect pre-mRNA splicing: is -23HphI a functional single nucleotide polymorphism at IDDM2?

scientific article published on January 2006

Variants of ADRA2A are associated with fasting glucose, blood pressure, body mass index and type 2 diabetes risk: meta-analysis of four prospective studies

scientific article

Variation in DNA methylation of the oxytocin receptor gene predicts children's resilience to prenatal stress

scientific article

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

scientific article published on 23 May 2017

Whole-genome sequence-based analysis of thyroid function.

scientific article

eNOS and coronary artery disease: publication bias and the eclipse of hypothesis-driven meta-analysis in genetic association studies.

scientific article published on 27 November 2014

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