List of works by Mark McCarthy

10 Years of GWAS Discovery: Biology, Function, and Translation

scientific article

35th Annual Meeting of the European Association for the Study of Diabetes

article

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

article

A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.

scientific article published on 27 April 2018

A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants

scientific article published on 10 May 2017

A Global Overview of Precision Medicine in Type 2 Diabetes

scientific article published on 01 October 2018

A Large-Scale Association Analysis of Common Variation of the HNF1 Gene With Type 2 Diabetes in the U.K. Caucasian Population

article

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

scientific article published on 24 March 2017

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

scientific article

A System for Information Management in BioMedical Studies--SIMBioMS.

scientific article

A central role for GRB10 in regulation of islet function in man.

scientific article published on 3 April 2014

A coherent approach for analysis of the Illumina HumanMethylation450 BeadChip improves data quality and performance in epigenome-wide association studies

scientific article

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

scientific article

A common variant of HMGA2 is associated with adult and childhood height in the general population

scientific article

A gene variant near ATM is significantly associated with metformin treatment response in type 2 diabetes: a replication and meta-analysis of five cohorts.

scientific article

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

scientific article published on 13 May 2012

A genome-wide association meta-analysis identifies new childhood obesity loci

scientific article

A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation

scientific article

A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

A genome-wide association study identifies protein quantitative trait loci (pQTLs)

scientific article

A genome-wide association study suggests new evidence for an association of the NADPH Oxidase 4 (NOX4) gene with severe diabetic retinopathy in type 2 diabetes

article

A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection

scientific article

A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol

scientific article

A genomewide linkage study of age at onset in schizophrenia

article

A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q

scientific article

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 large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes.

scientific article

A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits

scientific article published on 26 April 2009

A meta-analysis of four European genome screens (GIFT Consortium) shows evidence for a novel region on chromosome 17p11.2-q22 linked to type 2 diabetes

scientific article

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

scientific article

A novel common variant in DCST2 is associated with length in early life and height in adulthood

scientific article published on 3 October 2014

A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria

article

A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans

scientific article published on 28 January 2016

A powerful approach to sub-phenotype analysis in population-based genetic association studies

scientific article

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

scientific article published on 23 November 2016

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

A role for coding functional variants in HNF4A in type 2 diabetes susceptibility

scientific article (publication date: 2011)

A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity

scientific article published on 01 October 2019

A variant within the FTO confers susceptibility to diabetic nephropathy in Japanese patients with type 2 diabetes

scientific article published in PLoS ONE

Activating transcription factor 6 (ATF6) sequence polymorphisms in type 2 diabetes and pre-diabetic traits

scientific article published on March 2007

Adiposity as a cause of cardiovascular disease: a Mendelian randomization study

scientific article

Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data

scientific article

Adolescent manifestations of metabolic syndrome among children born to women with gestational diabetes in a general-population birth cohort

scientific article

Age- and sex-specific causal effects of adiposity on cardiovascular risk factors

scientific article published on 23 February 2015

Age-related clonal hematopoiesis associated with adverse outcomes

scientific article

Amerind ancestry, socioeconomic status and the genetics of type 2 diabetes in a Colombian population

scientific article

An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans

scientific article published on 31 May 2017

An association analysis of the HLA gene region in latent autoimmune diabetes in adults.

scientific article

An association study of bipolar mood disorder (type I) with the 5-HTTLPR serotonin transporter polymorphism in a human population isolate from Colombia

scientific article published on 01 October 2000

An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets

scientific article

An integrated epigenomic analysis for type 2 diabetes susceptibility loci in monozygotic twins

scientific article

An uncoupling protein 2 gene variant is associated with a raised body mass index but not Type II diabetes.

scientific article published on June 1999

Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits

scientific article

Analysis of protein-coding genetic variation in 60,706 humans

scientific article (publication date: 17 August 2016)

Analysis of the contribution to type 2 diabetes susceptibility of sequence variation in the gene encoding stearoyl-CoA desaturase, a key regulator of lipid and carbohydrate metabolism

article

Analysis with the exome array identifies multiple new independent variants in lipid loci

scientific article published on 27 July 2016

Apolipoprotein D gene polymorphism: a new genetic marker for type 2 diabetic subjects in Nauru and south India

scientific article

Application of eVOC: controlled vocabularies for unifying gene expression data

scientific article

Assessing allele-specific expression across multiple tissues from RNA-seq read data

scientific article

Assessing association between protein truncating variants and quantitative traits

scientific article published on 16 July 2013

Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk

scientific article published on 30 June 2008

Assessment of cumulative evidence on genetic associations: interim guidelines

scientific article published on 26 September 2007

Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations

scientific article

Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach

scientific article

Association Between Low-Density Lipoprotein Cholesterol-Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis

scientific article published on October 2016

Association Studies of Insulin Receptor Substrate 1 Gene (IRS1) Variants in Type 2 Diabetes Samples Enriched for Family History and Early Age of Onset

article

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

scientific article (publication date: November 2010)

Association analysis of 29,956 individuals confirms that a low-frequency variant at CCND2 halves the risk of type 2 diabetes by enhancing insulin secretion

scientific article published on 20 January 2015

Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility

scientific article published in May 2003

Association between common variation at the FTO locus and changes in body mass index from infancy to late childhood: the complex nature of genetic association through growth and development

scientific article published on 17 February 2011

Association between the T-381C polymorphism of the brain natriuretic peptide gene and risk of type 2 diabetes in human populations

scientific article

Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany

scientific article published on January 2010

Association of Genetically Enhanced Lipoprotein Lipase-Mediated Lipolysis and Low-Density Lipoprotein Cholesterol-Lowering Alleles With Risk of Coronary Disease and Type 2 Diabetes

scientific article

Association of genetic Loci with glucose levels in childhood and adolescence: a meta-analysis of over 6,000 children ⬇️

scientific article published on 22 April 2011

Association of the CpG methylation pattern of the proximal insulin gene promoter with type 1 diabetes

scientific article (publication date: 2012)

Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism

scientific article (publication date: March 1997)

Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study

scientific article

Association of vitamin D with risk of type 2 diabetes: A Mendelian randomisation study in European and Chinese adults.

scientific article published on 2 May 2018

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

scientific article

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Author Correction: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

article

BMI-associated alleles do not constitute risk alleles for polycystic ovary syndrome independently of BMI: a case-control study.

scientific article published on 31 January 2014

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

scientific article published on 28 October 2012

Biological, clinical and population relevance of 95 loci for blood lipids

scientific article

Body size from birth to adulthood as a predictor of self-reported polycystic ovary syndrome symptoms

scientific article published on 01 June 2003

Bone mineral density and risk of type 2 diabetes and coronary heart disease: A Mendelian randomization study.

scientific article published on 22 August 2017

Burden of Diabetes and First Evidence for the Utility of HbA1c for Diagnosis and Detection of Diabetes in Urban Black South Africans: The Durban Diabetes Study

scientific article

Can surgeons assess CT suitability for endovascular repair (EVAR) in ruptured abdominal aortic aneurysm? Implications for a ruptured EVAR trial

scientific article

Candidate genes in polycystic ovary syndrome

scientific article

Casting a wider net for diabetes susceptibility genes

article

Causal Analyses, Statistical Efficiency And Phenotypic Precision Through Recall-By-Genotype Study Design

Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts

scientific article (publication date: 2013)

Causal relationships among the gut microbiome, short-chain fatty acids and metabolic diseases

scientific article published on 18 February 2019

Characterising cis-regulatory variation in the transcriptome of histologically normal and tumour-derived pancreatic tissues

scientific article published on 20 June 2017

Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants ⬇️

scientific article

Childhood cognitive ability moderates later-life manifestation of type 2 diabetes genetic risk

scientific article

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

scientific article published on 2 March 2016

Coexpression network analysis in abdominal and gluteal adipose tissue reveals regulatory genetic loci for metabolic syndrome and related phenotypes

scientific article

Cohort Profile: East London Genes & Health (ELGH), a community based population genomics and health study in people of British-Bangladeshi and -Pakistani heritage

scholarly article published 27 September 2018

Combining information from common type 2 diabetes risk polymorphisms improves disease prediction

scientific article

Common Genetic Determinants of Vitamin D Insufficiency: A Genome-Wide Association Study

Common Variants of the Hepatocyte Nuclear Factor-4 P2 Promoter Are Associated With Type 2 Diabetes in the U.K. Population

scientific article published on 01 November 2004

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

scientific article

Common genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independent of obesity

scientific article

Common genetic variation near melatonin receptor MTNR1B contributes to raised plasma glucose and increased risk of type 2 diabetes among Indian Asians and European Caucasians

scientific article published on 03 August 2009

Common maternal and fetal genetic variants show expected polygenic effects on risk of small- or large-for-gestational-age (SGA or LGA), except in the smallest 3% of babies

scientific article published on 07 December 2020

Common variants associated with plasma triglycerides and risk for coronary artery disease

scientific article

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

scientific article

Common variants at 12q15 and 12q24 are associated with infant head circumference

scientific article published on 15 April 2012

Common variants at 6q22 and 17q21 are associated with intracranial volume

scientific article published on 15 April 2012

Common variants in WFS1 confer risk of type 2 diabetes

scientific article published on July 2007

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes

scientific article

Common variants near MC4R are associated with fat mass, weight and risk of obesity

scientific article

Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function

scientific article

Common variation in the FTO gene alters diabetes-related metabolic traits to the extent expected given its effect on BMI

scientific article

Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjects

scientific article (publication date: March 2007)

Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population.

scientific article published on 7 April 2006

Comparison of metabolic and inflammatory outcomes in women who used oral contraceptives and the levonorgestrel-releasing intrauterine device in a general population

scientific article published on 4 June 2008

Comprehensive human adipose tissue mRNA and microRNA endogenous control selection for quantitative real-time-PCR normalization

scientific article

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

scientific article

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

scientific article published on 18 March 2012

Contribution of 32 GWAS-identified common variants to severe obesity in European adults referred for bariatric surgery

scientific article

Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals

scientific article

Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

scientific article published on 23 August 2017

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes

scientific article published on 19 December 2011

Corrigendum: Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations

scientific article published on 12 February 2016

Corrigendum: Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.

scientific article

Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scholarly article published in Nature Genetics

Current developments in the molecular genetics of the polycystic ovary syndrome.

scientific article published in February 1998

Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism confers susceptibility to thyroid associated orbitopathy

scientific article published in The Lancet

DOLORisk: study protocol for a multi-centre observational study to understand the risk factors and determinants of neuropathic pain

scientific article published on 01 January 2018

Data sharing in large research consortia: experiences and recommendations from ENGAGE

scientific article (publication date: March 2014)

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

scientific article

Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice

scientific article

Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals

scientific article published on 27 January 2020

Defining the role of common variation in the genomic and biological architecture of adult human height

scientific article

Delayed metabolic and thermogenic response to a mixed meal in normoglycemic European women with previous gestational diabetes

scientific article published in July 2002

Design and cohort description of the InterAct Project: an examination of the interaction of genetic and lifestyle factors on the incidence of type 2 diabetes in the EPIC Study

scientific article

Detailed analysis of variation at and around mitochondrial position 16189 in a large Finnish cohort reveals no significant associations with early growth or metabolic phenotypes at age 31 years

scientific article published on 29 May 2007

Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk

scientific article

Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans

scientific article

Detection of human adaptation during the past 2000 years

scientific article

Determinants of dyslipidaemia in probands with polycystic ovary syndrome and their sisters

scientific article

Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data

Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data

Development of polycystic ovary syndrome: involvement of genetic and environmental factors

scientific article

Diabetes and Cause-Specific Mortality in Mexico City

scientific article

Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation

scientific article

Discovery and refinement of loci associated with lipid levels

scientific article

Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: an overview of the data from the epidemiological studies within the IMI DIRECT Consortium

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

scientific article published on 23 November 2020

Disparate genetic influences on polycystic ovary syndrome (PCOS) and type 2 diabetes revealed by a lack of association between common variants within the TCF7L2 gene and PCOS

article

Dissecting features of epigenetic variants underlying cardiometabolic risk using full-resolution epigenome profiling in regulatory elements

scientific article published on 14 March 2019

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

scientific article

Distinct developmental profile of lower-body adipose tissue defines resistance against obesity-associated metabolic complications

scientific article published on 19 June 2014

Distinct variants at LIN28B influence growth in height from birth to adulthood

scientific article

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

scientific article

Dorothy Hodgkin Lecture 2010. From hype to hope? A journey through the genetics of Type 2 diabetes.

scientific article published on February 2011

EULAR evidence based recommendations for gout. Part I: Diagnosis. Report of a task force of the Standing Committee for International Clinical Studies Including Therapeutics (ESCISIT)

scientific article

Early life factors and blood pressure at age 31 years in the 1966 northern Finland birth cohort.

scientific article published in November 2004

Early metabolic defects following gestational diabetes in three ethnic groups of anti-GAD antibodies negative women with normal fasting glucose.

scientific article published in April 2007

Elevation of soluble E-selectin levels following gestational diabetes is restricted to women with persistent abnormalities of glucose regulation

scientific article published on March 2002

Epigenetic silencing of HNF1A associates with changes in the composition of the human plasma N-glycome

scientific article published in February 2012

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 body mass index, and the adverse outcomes of adiposity

scientific article published on 21 December 2016

Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population

scientific article

Epilepsy in the United Kingdom: seizure frequency and severity, anti-epileptic drug utilization and impact on life in 1652 people with epilepsy

scientific article

Epistasis Between Type 2 Diabetes Susceptibility Loci on Chromosomes 1q21-25 and 10q23-26 in Northern Europeans

scientific article published on 01 November 2006

Erratum to: A coherent approach for analysis of the Illumina HumanMethylation450 BeadChip improves data quality and performance in epigenome-wide association studies.

scientific article published on 21 April 2016

Erratum to: Painting a new picture of personalised medicine for diabetes.

scientific article published in May 2017

Erratum. Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. Diabetes 2019;68:441-456

scientific article published on 27 April 2020

Erratum: Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants

scientific article published in Nature Communications

Erratum: Common variants at 12q15 and 12q24 are associated with infant head circumference

scholarly article published in Nature Genetics

Erratum: Common variants at 6q22 and 17q21 are associated with intracranial volume

article

Erratum: Corrigendum: Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes

scholarly article published in Nature Genetics

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article published in November 2011

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article published in May 2010

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

scientific article published on 23 January 2018

Estimation and testing of parent-of-origin effects for quantitative traits

scientific article

Ethnic variation in the activity of lipid desaturases and their relationships with cardiovascular risk factors in control women and an at-risk group with previous gestational diabetes mellitus: a cross-sectional study

scientific article published on 6 March 2013

European lactase persistence genotype shows evidence of association with increase in body mass index

scientific article

Evaluating the Performance of Fine-Mapping Strategies at Common Variant GWAS Loci

scientific article published on 25 September 2015

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

scientific article

Evaluating the results of genomewide linkage scans of complex traits by locus counting

scientific article published on 25 September 2002

Evaluation of Common Variants in the Six Known Maturity-Onset Diabetes of the Young (MODY) Genes for Association With Type 2 Diabetes

article

Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies

scientific article

Evaluation of common type 2 diabetes risk variants in a South Asian population of Sri Lankan descent

scientific article

Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes

scientific article

Evaluation of the importance of maternal history of diabetes and of mitochondrial variation in the development of NIDDM.

scientific article

Evaluation of type 2 diabetes genetic risk variants in Chinese adults: findings from 93,000 individuals from the China Kadoorie Biobank.

scientific article published on 06 April 2016

Evidence From a Large U.K. Family Collection That Genes Influencing Age of Onset of Type 2 Diabetes Map to Chromosome 12p and to the MODY3/NIDDM2 Locus on 12q24

article

Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes

scientific article

Evidence of inbreeding depression on human height

scientific article

Evidence that a locus for familial psoriasis maps to chromosome 4q

article

Evidence that single nucleotide polymorphism in the uncoupling protein 3 (UCP3) gene influences fat distribution in women of European and Asian origin.

scientific article published on December 2000

Examining the Candidacy of Ghrelin as a Gene Responsible for Variation in Adult Stature in a United Kingdom Population with Type 2 Diabetes

article

Examining the relationships between the Pro12Ala variant in PPARG and Type 2 diabetes-related traits in UK samples.

scientific article published in December 2005

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

article by Jason Flannick et al published 22 May 2019 in Nature

Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.

scientific article published on 19 November 2012

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

scientific article published on 06 June 2019

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

scientific article published on 01 September 2019

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

scientific article published on 30 October 2017

Exome-wide association study on Albuminuria identifies a novel rare variant in CUBN and additional genes, in 33,985 Europeans with and without diabetes

article

Exploring the developmental overnutrition hypothesis using parental-offspring associations and FTO as an instrumental variable

scientific article

Exploring the unknown: assumptions about allelic architecture and strategies for susceptibility variant discovery

scientific article published on 03 July 2009

Exposing the exposures responsible for type 2 diabetes and obesity

scientific article

Expression of phosphofructokinase in skeletal muscle is influenced by genetic variation and associated with insulin sensitivity

scientific article

Extent, causes, and consequences of small RNA expression variation in human adipose tissue

scientific article

FTO gene variants are strongly associated with type 2 diabetes in South Asian Indians.

scientific article

FTO genotype is associated with phenotypic variability of body mass index

scientific article published on 16 September 2012

Familial aggregation of type 2 (non-insulin-dependent) diabetes mellitus in south India; absence of excess maternal transmission

scientific article

Family studies of non-insulin-dependent diabetes mellitus in South Indians

scientific article published on 01 December 1994

Family-based analysis of tumor necrosis factor and lymphotoxin-alpha tag polymorphisms with type 1 diabetes in the population of South Croatia

scientific article published on 22 January 2009

Fat depot-specific mRNA expression of novel loci associated with waist-hip ratio

scientific article published on 19 April 2013

Finding the missing heritability of complex diseases

scientific article

Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

scientific article published on 08 October 2018

Five years of GWAS discovery

scientific article

Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.

scientific article published on 19 February 2018

GAD antibodies in probands and their relatives in a cohort clinically selected for Type 2 diabetes

scientific article published in August 2006

GANESH: software for customized annotation of genome regions

scientific article published in September 2003

GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI

scientific article published on 04 September 2019

Gene expression changes with age in skin, adipose tissue, blood and brain

scientific article

Gene-lifestyle interaction and type 2 diabetes: the EPIC interact case-cohort study

scientific article

Genes Associated with Pancreas Development and Function Maintain Open Chromatin in iPSCs Generated from Human Pancreatic Beta Cells

scientific article published on 24 October 2017

Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight

scientific article published on March 2016

Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease

scientific article

Genetic Predisposition to Type 2 Diabetes and Risk of Subclinical Atherosclerosis and Cardiovascular Diseases Among 160,000 Chinese Adults

scientific article published on 09 August 2019

Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis

scientific article

Genetic Variation in the Small Heterodimer Partner Gene and Young-Onset Type 2 Diabetes, Obesity, and Birth Weight in U.K. Subjects

article

Genetic approaches to the molecular understanding of type 2 diabetes

scientific article

Genetic architecture of circulating lipid levels

scientific article

Genetic association analysis of LARS2 with type 2 diabetes

scientific article (publication date: 2010)

Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966

scientific article

Genetic evidence of assortative mating in humans

article

Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes

scientific article published on 18 November 2009

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

scientific article

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

scientific article published on 13 June 2018

Genetic loci influencing kidney function and chronic kidney disease

scientific article

Genetic studies of body mass index yield new insights for obesity biology

scientific article

Genetic studies of diabetes following the advent of the genome-wide association study: where do we go from here?

scientific article published on 01 November 2007

Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D

scientific article published on 30 September 2020

Genetic variation associated with thyroid autoimmunity shapes the systemic immune response to PD-1 checkpoint blockade ⬇️

scientific article published on 07 June 2021

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

scientific journal article

Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus

scientific article

Genetics meets proteomics: perspectives for large population-based studies

scientific article published on 28 August 2020

Genetics of T2DM in 2016: Biological and translational insights from T2DM genetics

scientific article

Genetics of non-insulin dependent diabetes mellitus

scientific article published on September 1991

Genetics of ovarian disorders: polycystic ovary syndrome

scientific article published on March 2004

Genetics of polycystic ovary syndrome

article

Genetics of type 2 diabetes

scientific article published in April 2006

Genetics of type 2 diabetes

article

Genetics of type 2 diabetes mellitus and obesity--a review

scientific article published on January 2008

Genetics: how the UKPDS contributed to determining the genetic landscape of Type 2 diabetes.

scientific article published on August 2008

Genome wide significant linkage in schizophrenia conditioning on occurrence of depressive episodes

scientific article published on 14 October 2005

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

scientific article published in October 2013

Genome-wide association analysis identifies 20 loci that influence adult height

scientific article (publication date: May 2008)

Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

scientific article published on 24 November 2015

Genome-wide association analysis of metabolic traits in a birth cohort from a founder population

scientific article

Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

scientific journal article

Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity

scientific article

Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes

scientific article

Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations

scientific article

Genome-wide association scan allowing for epistasis in type 2 diabetes

scientific article published on 6 December 2010

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

scientific article published in June 2009

Genome-wide association scans for Type 2 diabetes: new insights into biology and therapy

scientific article published on 08 November 2007

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

scientific article

Genome-wide association studies in type 2 diabetes

scientific article (publication date: April 2009)

Genome-wide association studies: past, present and future

scientific article published on 01 October 2008

Genome-wide association studies: potential next steps on a genetic journey

scientific article published on October 2008

Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations

scientific article

Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.

scientific article

Genome-wide association study identifies 48 common genetic variants associated with handedness

scientific article published on 28 September 2020

Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India

scientific article

Genome-wide association study identifies eight loci associated with blood pressure

scientific article (publication date: June 2009)

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

scientific article published on 16 October 2011

Genome-wide association study identifies multiple loci influencing human serum metabolite levels

scientific article

Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels

scientific article

Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels

scientific article

Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels

scientific article published on 17 January 2018

Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci

scientific article

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

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

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Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics

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Genome-wide association study of offspring birth weight in 86,577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics

scientific article published on 3 January 2018

Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.

scientific article

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

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Genome-wide association study reveals multiple loci associated with primary tooth development during infancy

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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

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Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

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Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

scientific article published on 27 April 2017

Genome-wide scan and fine-mapping of rare nonsynonymous associations implicates intracellular lipolysis genes in fat distribution and cardio-metabolic risk

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Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

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Genomewide search for type 2 diabetes mellitus susceptibility loci in Finnish families: the Botnia study

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Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

scientific article published on 23 September 2016

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

scientific article published on 24 April 2017

Genomic inflation factors under polygenic inheritance

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Genomic medicine at the heart of diabetes management

scientific article published on 10 April 2015

Genomics, type 2 diabetes, and obesity

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Ghrelin levels are suppressed and show a blunted response to oral glucose in women with polycystic ovary syndrome

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Global Analysis of DNA Methylation Variation in Adipose Tissue from Twins Reveals Links to Disease-Associated Variants in Distal Regulatory Elements.

scientific article published in December 2013

Global adiposity rather than abnormal regional fat distribution characterizes women with polycystic ovary syndrome

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Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements

scientific article published on 31 October 2013

Global microRNA expression profiles in insulin target tissues in a spontaneous rat model of type 2 diabetes.

scientific article published on 3 March 2010

Glucokinase mutations in a phenotypically selected multiethnic group of women with a history of gestational diabetes

scientific article published on 01 August 2001

Glycosylation of immunoglobulin g: role of genetic and epigenetic influences

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H3Africa multi-centre study of the prevalence and environmental and genetic determinants of type 2 diabetes in sub-Saharan Africa: study protocol

scientific article published on 8 March 2016

Harmonising and linking biomedical and clinical data across disparate data archives to enable integrative cross-biobank research

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Heritability estimates for beta cell function and features of the insulin resistance syndrome in UK families with an increased susceptibility to type 2 diabetes.

scientific article

Heritability of variation in glycaemic response to metformin: a genome-wide complex trait analysis

scientific article

High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people

scientific article published in January 2006

Higher chylomicron remnants and LDL particle numbers associate with CD36 SNPs and DNA methylation sites that reduce CD36.

scientific article published on 11 October 2016

Higher magnesium intake is associated with lower fasting glucose and insulin, with no evidence of interaction with select genetic loci, in a meta-analysis of 15 CHARGE Consortium Studies

scientific article

Hnf1alpha (MODY3) controls tissue-specific transcriptional programs and exerts opposed effects on cell growth in pancreatic islets and liver.

scientific article published on 16 March 2009

Homogeneity in the association of body mass index with type 2 diabetes across the UK Biobank: A Mendelian randomization study

scientific article published on 10 December 2019

Hormonal profile of women with self-reported symptoms of oligomenorrhea and/or hirsutism: Northern Finland birth cohort 1966 study

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How Can Genetic Studies Help Us to Understand Links Between Birth Weight and Type 2 Diabetes?

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How useful is the fine-scale mapping of complex trait linkage peaks? Evaluating the impact of additional microsatellite genotyping on the posterior probability of linkage.

scientific article published in January 2005

Human Genetics of Obesity and Type 2 Diabetes Mellitus: Past, Present, and Future

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Human disease genomics: from variants to biology

scientific article published on 30 January 2017

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

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Human islet function following 20 years of cryogenic biobanking

scientific article published on May 2015

Human metabolic profiles are stably controlled by genetic and environmental variation

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Human β cell transcriptome analysis uncovers lncRNAs that are tissue-specific, dynamically regulated, and abnormally expressed in type 2 diabetes

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Hundreds of variants clustered in genomic loci and biological pathways affect human height

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INS VNTR class genotype and the function of isolated human islets.

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Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

scientific article

Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes

scientific article

Identification of seven loci affecting mean telomere length and their association with disease

scientific article published on April 2013

Identification of type 2 diabetes loci in 433,540 East Asian individuals

scientific article published on 06 May 2020

Identifying genes predisposing to atopic eczema☆☆☆★★★

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Impact of FTO genotypes on BMI and weight in polycystic ovary syndrome: a systematic review and meta-analysis

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Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.

scientific article published on 12 September 2017

Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity

scientific article

Implications of new diagnostic criteria for abnormal glucose homeostasis in women with previous gestational diabetes.

scientific article published in June 1999

Improved detection of common variants associated with schizophrenia by leveraging pleiotropy with cardiovascular-disease risk factors

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Increased 5 alpha-reductase activity and adrenocortical drive in women with polycystic ovary syndrome

scientific article

Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model

scientific article published on April 2016

Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human islets.

scientific article published on 8 November 2012

Insulin resistance and beta-cell dysfunction in normoglycaemic European women with a history of gestational diabetes

scientific article published on September 2003

Integrated genetic and epigenetic analysis identifies haplotype-specific methylation in the FTO type 2 diabetes and obesity susceptibility locus

scientific article

Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci

Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci.

scientific article published on 7 February 2018

Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.

scientific article

Integrative network analysis highlights biological processes underlying GLP-1 stimulated insulin secretion: A DIRECT study

scientific article published on 2 January 2018

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

scientific article

Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach

scientific article

LRP5 regulates human body fat distribution by modulating adipose progenitor biology in a dose- and depot-specific fashion.

scientific article

Lack of significant effects of the type 2 diabetes susceptibility loci JAZF1, CDC123/CAMK1D, NOTCH2, ADAMTS9, THADA, and TSPAN8/LGR5 on diabetes and quantitative metabolic traits

scientific article published on 10 August 2009

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

scientific article

Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness.

scientific article published on 12 July 2017

Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone

scientific article

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

scientific article

Large-scale association analysis identifies new risk loci for coronary artery disease

scientific article published on 02 December 2012

Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes

scientific article

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

scientific article

Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes

scientific article published in February 2003

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

scientific article

Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria

scientific article published on 19 December 2018

Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes.

scientific article

Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes

scientific article published in November 2008

Life-course analysis of a fat mass and obesity-associated (FTO) gene variant and body mass index in the Northern Finland Birth Cohort 1966 using structural equation modeling

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Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome

article

Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q

scientific article (publication date: July 2009)

Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1)

scientific article published on 01 October 1997

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts

scientific article (publication date: 2009)

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

scientific article published on 01 November 2019

Loss-of-Function Mutations in the Cell-Cycle Control Gene CDKN2A Impact on Glucose Homeostasis in Humans. ⬇️

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Loss-of-function CYP2C9 variants improve therapeutic response to sulfonylureas in type 2 diabetes: a Go-DARTS study.

scientific article published on 30 September 2009

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

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Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes

scientific article published on 12 August 2009

Making the right associations

scientific article published on 01 July 2005

Manifestations of metabolic syndrome after hypertensive pregnancy

scientific article published on 23 February 2004

Mapping cis- and trans-regulatory effects across multiple tissues in twins

scientific article published on 02 September 2012

Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families

article

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

scientific article published on 01 May 2019

Maturity onset diabetes of the young due to HNF1A variants in Croatia.

scientific article published on 15 April 2018

Mechanisms of disease: genetic insights into the etiology of type 2 diabetes and obesity

scientific article published on 15 January 2008

Mendelian randomization analysis does not support causal associations of birth weight with hypertension risk and blood pressure in adulthood

scientific article published on 07 May 2020

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 and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility

scientific article published on November 2003

Meta-analysis and functional effects of the SLC30A8 rs13266634 polymorphism on isolated human pancreatic islets

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Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article

Meta-analysis investigating associations between healthy diet and fasting glucose and insulin levels and modification by loci associated with glucose homeostasis in data from 15 cohorts

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Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

scientific article published in June 2009

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

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Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians

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Meta-analysis of the INSIG2 association with obesity including 74,345 individuals: does heterogeneity of estimates relate to study design?

scientific article published on 23 October 2009

Metabolic and reproductive characteristics of first-degree relatives of women with self-reported oligo-amenorrhoea and hirsutism

scientific article published on 05 October 2010

Metabolic cardiovascular disease risk factors in women with self-reported symptoms of oligomenorrhea and/or hirsutism: Northern Finland Birth Cohort 1966 Study

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Metabolic characteristics of women with polycystic ovaries and oligo-amenorrhoea but normal androgen levels: implications for the management of polycystic ovary syndrome.

scientific article published in April 2007

Metabolic profiling in Maturity-onset diabetes of the young (MODY) and young onset type 2 diabetes fails to detect robust urinary biomarkers

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Metabolic profiling reveals a contribution of gut microbiota to fatty liver phenotype in insulin-resistant mice

scholarly article

Metabolite ratios as potential biomarkers for type 2 diabetes: a DIRECT study.

scientific article published on 21 September 2017

MicroRNA expression in abdominal and gluteal adipose tissue is associated with mRNA expression levels and partly genetically driven

scientific article (publication date: 2011)

MicroRNA-125a is over-expressed in insulin target tissues in a spontaneous rat model of Type 2 Diabetes

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

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Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

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Mouse-human experimental epigenetic analysis unmasks dietary targets and genetic liability for diabetic phenotypes

scientific article published in January 2015

Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control

scientific article published on 28 November 2018

Mutations in HNF1A result in marked alterations of plasma glycan profile

scientific article published on 28 December 2012

NKX6.1 induced pluripotent stem cell reporter lines for isolation and analysis of functionally relevant neuronal and pancreas populations

scientific article published on 23 April 2018

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

scientific article published in October 2017

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

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New genetic loci link adipose and insulin biology to body fat distribution

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New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

scientific article published on 2 December 2012

New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk ⬇️

scientific article published on February 2016

New methods for finding disease-susceptibility genes: impact and potential

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No Evidence for Linkage at Candidate Type 2 Diabetes Susceptibility Loci on Chromosomes 12 and 20 in United Kingdom Caucasians

scientific article published on 01 February 2000

No Evidence of Association of ENPP1 Variants With Type 2 Diabetes or Obesity in a Study of 8,089 U.K. Caucasians

scientific article published on 01 November 2006

No evidence that established type 2 diabetes susceptibility variants in the PPARG and KCNJ11 genes have pleiotropic effects on early growth

article

Nonfasting glucose, ischemic heart disease, and myocardial infarction: a Mendelian randomization study

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Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank

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Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

scientific article

Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits

scientific article published on 12 October 2020

Obesity and polycystic ovary syndrome

scientific article published on 01 August 2006

Optimization of human plasma 1H NMR spectroscopic data processing for high-throughput metabolic phenotyping studies and detection of insulin resistance related to type 2 diabetes

scientific article

Ovarian morphology is a marker of heritable biochemical traits in sisters with polycystic ovaries

scientific article

PASSIM--an open source software system for managing information in biomedical studies

scientific article published on 9 February 2007

PLOS Genetics Data Sharing Policy: In Pursuit of Functional Utility

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

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Painting a new picture of personalised medicine for diabetes

scientific article published on 07 February 2017

Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants

scientific article

Paradoxical lower serum triglyceride levels and higher type 2 diabetes mellitus susceptibility in obese individuals with the PNPLA3 148M variant

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Paraoxonase 2 (PON2) polymorphisms and development of renal dysfunction in type 2 diabetes: UKPDS 76

article

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

scientific article

Pathogenesis of polycystic ovary syndrome: evidence for a genetically determined disorder of ovarian androgen production

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Patterns of differential gene expression in a cellular model of human islet development, and relationship to type 2 diabetes predisposition.

scientific article published on 19 April 2018

Patterns of ovarian morphology in polycystic ovary syndrome: a study utilising magnetic resonance imaging

scientific article published on 05 November 2009

Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins

scientific article

Plasma Fucosylated Glycans and C-Reactive Protein as Biomarkers of HNF1A-MODY in Young Adult–Onset Nonautoimmune Diabetes

scientific article published on 19 November 2018

Polymorphisms in the glucokinase-associated, dual-specificity phosphatase 12 (DUSP12) gene under chromosome 1q21 linkage peak are associated with type 2 diabetes

scientific article

Population whole-genome bisulfite sequencing across two tissues highlights the environment as the principal source of human methylome variation

scientific article

Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies

scientific article published on 26 August 2008

Predicting and elucidating the etiology of fatty liver disease: A machine learning modeling and validation study in the IMI DIRECT cohorts

scientific article published on 19 June 2020

Predicting relapse after transsphenoidal surgery for Cushing's disease

scientific article published on 01 February 1993

Prevalence and clinical characteristics of maternally inherited diabetes and deafness caused by the mt3243A > G mutation in young adult diabetic subjects in Sri Lanka.

scientific article published on 13 February 2008

Prevalence of polycystic ovaries in women with androgenic alopecia

scientific article published in November 2003

Prevalence of polycystic ovaries in women with self-reported symptoms of oligomenorrhoea and/or hirsutism: Northern Finland Birth Cohort 1966 Study

scientific article published on 25 March 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

Public health research in Europe: SPHERE and the Nordic countries

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

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

RNA sequencing identifies dysregulation of the human pancreatic islet transcriptome by the saturated fatty acid palmitate

scientific article published on 30 December 2013

Rapid testing of gene-gene interactions in genome-wide association studies of binary and quantitative phenotypes

scientific article

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

scientific article published on 29 January 2012

Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci

scientific article published on 30 January 2014

Reduced beta cell function in offspring of mothers with young-onset type 2 diabetes

scientific article published on 16 May 2006

Reduced insulin exocytosis in human pancreatic β-cells with gene variants linked to type 2 diabetes

scientific article

Reduced-function SLC22A1 polymorphisms encoding organic cation transporter 1 and glycemic response to metformin: a GoDARTS study

scientific article published on 31 March 2009

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

Regulation of Fto/Ftm gene expression in mice and humans

scientific article

Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition.

scientific article

Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels

article published in 2007

Relationship between birthweight and blood lipid concentrations in later life: evidence from the existing literature

scientific article published on October 2003

Remapping the insulin gene/IDDM2 locus in type 1 diabetes

scientific article published in July 2004

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

scientific article (publication date: June 2007)

Reply

Reply to Dlouha et al.

scientific article published on 28 July 2010

Research capacity. Enabling the genomic revolution in Africa

scientific article published in June 2014

Revisiting the thrifty gene hypothesis via 65 loci associated with susceptibility to type 2 diabetes

scientific article (publication date: 6 February 2014)

Role of the D76N polymorphism of insulin promoter factor-1 in predisposing to Type 2 diabetes.

scientific article published on 7 May 2004

Role of the mitochondrial DNA 16184–16193 poly-C tract in type 2 diabetes

scientific article published in The Lancet

SAIL--a software system for sample and phenotype availability across biobanks and cohorts.

scientific article

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

scientific article published on 19 December 2017

Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior

scientific article

Serum levels of retinol-binding protein 4 and adiponectin in women with polycystic ovary syndrome: associations with visceral fat but no evidence for fat mass-independent effects on pathogenesis in this condition

scientific article published on 29 April 2008

Serum sex hormone-binding globulin and testosterone in relation to cardiovascular disease risk factors in young men: a population-based study

scientific article

Sex-biased genetic effects on gene regulation in humans

scientific article

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

scientific article

Significant Linkage of BMI to Chromosome 10p in the U.K. Population and Evaluation of GAD2 as a Positional Candidate

scientific article published on 01 June 2006

Silencing of Atp2b1 increases blood pressure through vasoconstriction

scientific article published on August 2013

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

scientific article

Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases

scientific article

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity

scientific article

Study of genes and environmental factors in complex diseases.

scientific article published in March 2002

Study profile: the Durban Diabetes Study (DDS): a platform for chronic disease research

scientific article published on 5 February 2016

Studying gene and gene-environment effects of uncommon and common variants on continuous traits: a marker-set approach using gene-trait similarity regression

scientific article

Subtle metabolic and liver gene transcriptional changes underlie diet-induced fatty liver susceptibility in insulin-resistant mice

article

Susceptibility gene discovery for common metabolic and endocrine traits

scientific article

Sustained endogenous glucose production, diminished lipolysis and non-esterified fatty acid appearance and oxidation in non-obese women at high risk of type 2 diabetes.

scientific article published in September 2006

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

scientific article published on February 2017

Systematic Functional Characterization of Candidate Causal Genes for Type 2 Diabetes Risk Variants.

scientific article

Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young

scientific article

TCF7L2 and Diabetes: A Tale of Two Tissues, and of Two Species

scientific article published on 01 February 2013

TCF7L2 in the Go-DARTS study: evidence for a gene dose effect on both diabetes susceptibility and control of glucose levels

article

TCF7L2: the biggest story in diabetes genetics since HLA?

scientific article published on January 2007

Tensor decomposition for multiple-tissue gene expression experiments

scientific article published on August 2016

The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes

scientific article published on 02 August 2016

The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia: design, results and future prospects

article

The Genetic Basis of Metabolic Disease

The Genetic Landscape of Renal Complications in Type 1 Diabetes

scientific article

The Importance of Context: Uncovering Species- and Tissue-Specific Effects of Genetic Risk Variants for Type 2 Diabetes

scientific article published on 31 August 2016

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

The South Asian genome.

scientific article

The Variable Number of Tandem Repeats Upstream of the Insulin Gene Is a Susceptibility Locus for Latent Autoimmune Diabetes in Adults

article

The architecture of gene regulatory variation across multiple human tissues: the MuTHER study

scientific article

The circadian rhythm of leptin is preserved in growth hormone deficient hypopituitary adults

scientific article published in June 1998

The cytotoxic T lymphocyte antigen-4 is a major Graves' disease locus.

scientific article

The fat mass- and obesity-associated locus and dietary intake in children

scientific article

The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians

scientific article

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The genetic basis of polycystic ovary syndrome

scientific article published on December 1997

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

scientific article published on 12 September 2016

The genetics of diabetic complications

scientific article published on 31 March 2015

The genetics of non-insulin-dependent diabetes mellitus in south India: an overview

scientific article published on December 1, 1992

The genetics of type 2 diabetes

scientific article

The genetics of type 2 diabetes

article

The human pancreatic islet transcriptome: expression of candidate genes for type 1 diabetes and the impact of pro-inflammatory cytokines

scientific article

The impact of low-frequency and rare variants on lipid levels

scientific article published on 11 May 2015

The importance of global studies of the genetics of type 2 diabetes

scientific article

The islet amyloid polypeptide gene and non-insulin-dependent diabetes mellitus in South Indians

article

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

scientific article

The miRNA profile of human pancreatic islets and beta-cells and relationship to type 2 diabetes pathogenesis

scientific article

The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease

scientific article published on 23 April 2015

The presence of methylation quantitative trait loci indicates a direct genetic influence on the level of DNA methylation in adipose tissue

scientific article

The prevalence of polycystic ovaries in women with a history of gestational diabetes.

scientific article published in October 2000

The prevalence of polycystic ovaries in women with infertility

scientific article

The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis

scientific article (publication date: 2013)

Toppar: An interactive browser for viewing association study results

scientific article published on 8 January 2018

Total zinc intake may modify the glucose-raising effect of a zinc transporter (SLC30A8) variant: a 14-cohort meta-analysis

scientific article

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

scientific article

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

scientific article published on 12 September 2016

Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution

scientific article published on September 2017

Trans-ethnic study design approaches for fine-mapping

scientific article published on 3 February 2016

Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms

scientific article published on 23 February 2016

Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors

scientific article

Transcriptome and genome sequencing uncovers functional variation in humans

scientific article

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scientific article

Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups

scientific journal article

Type 1 and type 2 diabetes—chalk and cheese?

scientific article published on 01 August 2009

Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals

scientific article published on 23 April 2007

Type 2 diabetes and obesity: genomics and the clinic

scientific article published on 07 June 2011

Type 2 diabetes risk alleles are associated with reduced size at birth

scientific article published on 19 February 2009

Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells

scientific article published on 27 July 2018

Type 2 diabetes: new genes, new understanding

scientific article published on 25 October 2008

Underlying genetic models of inheritance in established type 2 diabetes associations

scientific article published on 14 July 2009

Understanding human fetal pancreas development using subpopulation sorting, RNA sequencing and single-cell profiling

scientific article published on 15 August 2018

Urban development and health inequalities

Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families

scientific article

Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation

article

Validation of Plasma Biomarker Candidates for the Prediction of eGFR Decline in Patients With Type 2 Diabetes

scientific article published on 06 July 2018

Variability of gene expression profiles in human blood and lymphoblastoid cell lines

scientific article

Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome

scientific article published on 01 July 2006

Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight

scientific article

Variants in MTNR1B influence fasting glucose levels

scientific article

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration

article

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration

scientific article published on 02 September 2019

Variation Within the Gene Encoding the Upstream Stimulatory Factor 1 Does Not Influence Susceptibility to Type 2 Diabetes in Samples From Populations With Replicated Evidence of Linkage to Chromosome 1q

article

Variation across the allele frequency spectrum ⬇️

scientific article published on 01 August 2010

Variation at the IRF2 gene and susceptibility to psoriasis in chromosome 4q-linked families

scientific article

Variation at the Insulin Gene VNTR (Variable Number Tandem Repeat) Polymorphism and Early Growth: Studies in a Large Finnish Birth Cohort

article

Variation in TCF7L2 influences therapeutic response to sulfonylureas: a GoDARTs study

scientific article published on 22 May 2007

Variation in the glucose transporter gene SLC2A2 is associated with glycemic response to metformin

scientific article published on 08 August 2016

Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome

scientific article

Weighing in on diabetes risk

scientific article published on 01 July 1998

What Will Genome-Wide Association Studies Mean to the Clinical Endocrinologist?

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What makes a good genetic association study?

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

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Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

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Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes

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Will the real disease gene please stand up?

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Women with a history of gestational diabetes of European and South Asian origin are shorter than women with normal glucose tolerance in pregnancy.

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Young-onset type 2 diabetes families are the major contributors to genetic loci in the Diabetes UK Warren 2 genome scan and identify putative novel loci on chromosomes 8q21, 21q22, and 22q11.

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eVOC: a controlled vocabulary for unifying gene expression data

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miR-375 gene dosage in pancreatic β-cells: implications for regulation of β-cell mass and biomarker development

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