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List of works by Panos Deloukas

8th Santorini Conference: Systems medicine and personalized health and therapy, Santorini, Greece, 3–5 October 2016

article

A Detailed Physical and Transcriptional Map of the Region of Chromosome 20 That Is Deleted in Myeloproliferative Disorders and Refinement of the Common Deleted Region

scientific article published on 01 May 1998

A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site

scientific article

A Gene Map of the Human Genome

scientific 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 comparison of tagging methods and their tagging space

scientific article published on 15 August 2005

A comparison of the whole genome approach of MeDIP-seq to the targeted approach of the Infinium HumanMethylation450 BeadChip(®) for methylome profiling

scientific article

A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease

scientific article

A comprehensive evaluation of potential lung function associated genes in the SpiroMeta general population sample

scientific article

A first update on mapping the human genetic architecture of COVID-19

scientific article published on 3 August 2022

A first-generation linkage disequilibrium map of human chromosome 22

scientific article published in Nature

A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways.

scientific article published on 8 May 2009

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 analysis of a broad psychosis phenotype identifies three loci for further investigation

scientific article published on 17 July 2013

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

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 confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose

scientific article

A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21

scientific article

A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length.

scientific article published on 08 April 2009

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

scientific article

A genome-wide association study identifies three loci associated with mean platelet volume

scientific article published on 24 December 2008

A genome-wide association study of testicular germ cell tumor

scientific article

A genome-wide association study reveals variants in ARL15 that influence adiponectin levels

scientific article

A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium.

scientific article published on 08 June 2009

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

scientific article

A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs

scientific article published on 05 February 2009

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 genotype calling algorithm for the Illumina BeadArray platform

scientific article published on 10 September 2007

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.

scientific article published on 24 September 2006

A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms

scientific article

A histone map of human chromosome 20q13.12.

scientific article

A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip

scientific article

A multi-factorial analysis of response to warfarin in a UK prospective cohort

scientific article

A novel interaction between the FLJ33534 locus and smoking in obesity: a genome-wide study of 14 131 Pakistani adults

scientific article published on 17 August 2015

A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function

scientific article published on 12 February 2009

A pharmacometric model describing the relationship between warfarin dose and INR response with respect to variations in CYP2C9, VKORC1, and age.

scientific article published on 21 April 2010

A physical map of 30,000 human genes

scientific article published on October 1998

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

scientific article published on 23 November 2016

A second generation human haplotype map of over 3.1 million SNPs

scientific article

A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm

scientific article published on 27 March 2013

A systematic evaluation of 151 candidate genes for their association with osteoporosis and osteoporotic fracture in a meta-analysis of genome-wide association data

article

A variant in LDLR is associated with abdominal aortic aneurysm

scientific journal article

A variant in LIN28B is associated with 2D:4D finger-length ratio, a putative retrospective biomarker of prenatal testosterone exposure

scientific article

A variant in MCF2L is associated with osteoarthritis

scientific article

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

scientific article

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

scientific article published on March 2007

Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs

scientific article

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

scientific article published on 31 May 2017

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

scientific article

An integrated cytogenetic, radiation-hybrid, and comparative map of dog chromosome 5.

scientific article published in May 2001

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

scientific article

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

scientific article published on 29 September 2013

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

scientific article published on 27 July 2016

Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies

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

scientific article published on 17 July 2017

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

scientific article (publication date: November 2010)

Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events

scientific article published on 21 March 2019

Association of Factor V Leiden with Subsequent Atherothrombotic Events: A GENIUS-CHD Study of Individual Participant Data

scientific article published on 13 July 2020

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 9p21.3 locus with risk of first-ever myocardial infarction in Pakistanis: case-control study in South Asia and updated meta-analysis of Europeans

scientific article published on 15 April 2010

Association of the GGCX (CAA)16/17 repeat polymorphism with higher warfarin dose requirements in African Americans

scientific article published on February 2012

Association of warfarin dose with genes involved in its action and metabolism

scientific article published on 18 October 2006

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

scientific article

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

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

scientific article

Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.

scientific article published on May 2008

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

scientific article published on 29 September 2017

Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia

scientific article

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

scientific article

Characterization of the imprinted polycomb gene L3MBTL, a candidate 20q tumour suppressor gene, in patients with myeloid malignancies

scientific article

Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes

article

Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation

scientific article

Circulating brain-derived neurotrophic factor concentrations and the risk of cardiovascular disease in the community

scientific article

Cis and trans effects of human genomic variants on gene expression.

scientific article

Clustered coding variants in the glutamate receptor complexes of individuals with schizophrenia and bipolar disorder

scientific article

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

scientific article published on 2 March 2016

Cohort-specific imputation of gene expression improves prediction of warfarin dose for African Americans

scientific article published on 24 November 2017

Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture

scientific article

Common VKORC1 and GGCX polymorphisms associated with warfarin dose

scientific article

Common and Rare Genetic Variation in CCR2, CCR5, or CX3CR1 and Risk of Atherosclerotic Coronary Heart Disease and Glucometabolic Traits

scientific article published on 24 March 2016

Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies

scientific article

Common regulatory variation impacts gene expression in a cell type-dependent manner

scientific article (publication date: 4 September 2009)

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 ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

scientific article (publication date: May 2011)

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

scientific article

Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

scientific article published on 6 January 2013

Common variants in the region around Osterix are associated with bone mineral density and growth in childhood

scientific article published on 30 January 2009

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 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)

Comparison of human genetic and sequence-based physical maps

scientific article published in Nature

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

scientific article

Comprehensive exploration of the effects of miRNA SNPs on monocyte gene expression

scientific article

Concordance for clonal hematopoiesis is limited in elderly twins

scientific article published on 01 January 2020

Construction and integration of radiation-hybrid and cytogenetic maps of dog Chromosome X.

scientific article published in March 2003

Construction of yeast artificial chromosome (YAC) clone banks covering three genome equivalents and isolation of YACs containing the human gene encoding tumor necrosis factor receptor beta

scientific article

Convergent adaptation of human lactase persistence in Africa and Europe

scientific article

Coordination of human genome sequencing via a consensus framework map

scientific article published on 01 October 1998

Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution.

scientific article published on 27 July 2009

Correction: Genome-Wide Association Study Reveals Multiple Loci Associated with Primary Tooth Development during Infancy

article

Correction: Identification of PLCL1 Gene for Hip Bone Size Variation in Females in a Genome-Wide Association Study

scientific article published on 19 February 2009

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

DNA methylation and body-mass index: a genome-wide analysis

scientific article

DNA methylation of lipid-related genes affects blood lipid levels

scientific article published on 12 January 2015

DNA sequence and structural properties as predictors of human and mouse promoters

scientific article published on 23 December 2007

Data analysis issues for allele-specific expression using Illumina's GoldenGate assay

scientific article

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

scientific article

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

scientific article

Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

scientific article

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

Detection of translocations involving the HOX11/TCL3-locus in 10q24 by interphase fluorescence in situ hybridization

article

Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays

scientific article published on June 2008

Differential methylation of the TRPA1 promoter in pain sensitivity

scientific article published on January 2014

Dinucleotide repeat polymorphism (D10S608) adjacent to the GLUD1 locus.

scientific article published in November 1993

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

Discovery and refinement of loci associated with lipid levels

scientific article

Discovery by the Epistasis Project of an epistatic interaction between the GSTM3 gene and the HHEX/IDE/KIF11 locus in the risk of Alzheimer's disease.

scientific article published in October 2012

Discovery of novel heart rate-associated loci using the Exome Chip

scientific 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

Does a short breastfeeding period protect fromFTO-induced adiposity in children?

article

Effect of CYP4F2, VKORC1, and CYP2C9 in Influencing Coumarin Dose: A Single-Patient Data Meta-Analysis in More Than 15,000 Individuals

scientific article published on 17 February 2019

Efficiency and consistency of haplotype tagging of dense SNP maps in multiple samples

scientific article published on 14 September 2004

Elucidating the chromatin architecture of loci associated with blood traits and coronary artery disease

scholarly article by D.S. Paul et al published April 2010 in New Biotechnology

Emerging applications of genome-editing technology to examine functionality of GWAS-associated variants for complex traits

scientific article published on 13 April 2018

Epigenetic Patterns in Blood Associated With Lipid Traits Predict Incident Coronary Heart Disease Events and Are Enriched for Results From Genome-Wide Association Studies

scientific article published on January 2017

Epigenome-wide DNA methylation in hearing ability: new mechanisms for an old problem

scientific article

Epigenome-wide association study (EWAS) of BMI, BMI change and waist circumference in African American adults identifies multiple replicated loci

scientific article published in May 2015

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

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

scientific article published in Nature Communications

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: Corrigendum: Multiple common variants for celiac disease influencing immune gene expression

article

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

scholarly article published in Nature Genetics

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

article

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

Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data

scientific article

Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.

scientific article published on 25 February 2016

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

scientific article published on 30 October 2017

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

Facilitating genome navigation: survey sequencing and dense radiation-hybrid gene mapping

scientific article published in August 2005

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

scientific article published on 22 May 2017

Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes

scientific article published on 14 June 2021

Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein

scientific article

From long range mapping to sequence-ready contigs on human chromosome 6

article

GWAS of 126,559 individuals identifies genetic variants associated with educational attainment

scientific article published on 21 June 2013

Gamma-glutamyl carboxylase (GGCX) microsatellite and warfarin dosing

scientific article published in November 2005

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

scientific article

Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy

article

Genetic and environmental factors determining clinical outcomes and cost of warfarin therapy: a prospective study

scientific article published in October 2009

Genetic association analyses of non-synonymous single nucleotide polymorphisms in diabetic nephropathy.

scientific article published on 05 September 2008

Genetic determinants of major blood lipids in Pakistanis compared with Europeans.

scientific article published on 22 June 2010

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

scientific article published on 27 April 2008

Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease

scientific article (publication date: 15 November 2010)

Genetic evidence of assortative mating in humans

article

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

scientific article

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

scientific article

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 28 February 2019

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

scientific article

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

scientific article

Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study

scientific article published on 05 June 2013

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

scientific article published on 6 October 2011

Genetic variants influencing circulating lipid levels and risk of coronary artery disease

scientific article published on 23 September 2010

Genetic variation in LIN28B is associated with the timing of puberty

scientific article

Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes

scientific article published in April 2004

Genetically determined height and coronary artery disease

scientific article

Genetically distinct subsets within ANCA-associated vasculitis

scientific journal article

Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants

scientific article published on November 2005

Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies

scientific article

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

scientific article

Genome-wide and fine-resolution association analysis of malaria in West Africa

scientific article

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 of type 2 diabetes in the EPIC-InterAct study

scientific article published on 13 November 2020

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

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 meta-analysis of cortical bone mineral density unravels allelic heterogeneity at the RANKL locus and potential pleiotropic effects on bone

scientific article

Genome-wide association meta-analysis of fish and EPA+DHA consumption in 17 US and European cohorts.

scientific article published on 13 December 2017

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

scientific article

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

scientific article published in June 2009

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

scientific article published on 28 September 2020

Genome-wide association study identifies 74 loci associated with educational attainment

scientific article published on 11 May 2016

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 a variant in HDAC9 associated with large vessel ischemic stroke

scientific article

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

scientific article (publication date: June 2009)

Genome-wide association study identifies five loci associated with lung function

scientific article

Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi

scientific article

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

scientific article

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

scientific article

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

scientific article

Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci

scientific article published on 10 January 2010

Genome-wide association study of nevirapine hypersensitivity in a malawian HIV-infected population

scientific article

Genome-wide association study of nevirapine hypersensitivity in a sub-Saharan African HIV-infected population

scientific article

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

scientific article

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

scientific article

Genome-wide associations of gene expression variation in humans

scientific article

Genome-wide detection and characterization of positive selection in human populations

scientific article

Genome-wide haplotype analysis of cis expression quantitative trait loci in monocytes

scientific article

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

scientific journal article

Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

scientific article

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

scientific article

Genome-wide meta-analysis of macronutrient intake of 91,114 European ancestry participants from the cohorts for heart and aging research in genomic epidemiology consortium

scientific article published on 09 July 2018

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

scientific article

Genomewide association analysis of coronary artery disease

scientific article

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults: Implications for Primary Prevention

scientific article published on 01 October 2018

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

scientific article published on 8 August 2017

Genomic organization of the gene encoding the p65 subunit of NF-kappa B: multiple variants of the p65 protein may be generated by alternative splicing

scientific article published on November 1993

Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p

scientific article

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 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

HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans

scientific article

Habitual sleep duration is associated with BMI and macronutrient intake and may be modified by CLOCK genetic variants

scientific article

Haplotype-based search for SNPs associated with differential type 1 diabetes risk among chromosomes carrying a specific HLA DRB1-DQA1-DQB1 haplotype

scientific article published on February 2009

High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation

scientific article

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

scientific article

High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.

scientific article

High-throughput genotyping of Salmonella enterica serovar Typhi allowing geographical assignment of haplotypes and pathotypes within an urban District of Jakarta, Indonesia

scientific article published on 5 March 2008

Higher Nevus Count Exhibits a Distinct DNA Methylation Signature in Healthy Human Skin: Implications for Melanoma

scientific article

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

Highly parallel SNP genotyping

scientific article published in January 2003

Human aging-associated DNA hypermethylation occurs preferentially at bivalent chromatin domains

scientific article

Human metabolic individuality in biomedical and pharmaceutical research

scientific article (publication date: 31 August 2011)

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

scientific article

IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease

scientific article

Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia

scientific article

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

scientific article

Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study

scientific article

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

scientific article

Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci

scientific article

Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study ⬇️

scientific article published on July 3, 2012

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

scientific article

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 population structure, effective bottleneck time, and allele frequency on linkage disequilibrium maps

scientific article (publication date: 28 December 2004)

Inactivating mutations in NPC1L1 and protection from coronary heart disease

scientific article

Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome

scientific article published on 9 February 2012

Initial sequencing and analysis of the human genome

scientific article published on 15 February 2001

Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study

scientific article

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

scientific article

Integrating common and rare genetic variation in diverse human populations

scientific article (publication date: 2 September 2010)

Integrating genome-wide genetic variations and monocyte expression data reveals trans-regulated gene modules in humans

scientific article

Integration of genetic, clinical, and INR data to refine warfarin dosing

scientific article

Integrative DNA methylome analysis of pan-cancer biomarkers in cancer discordant monozygotic twin-pairs

scientific article

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

scientific article

Interaction of insulin and PPAR-α genes in Alzheimer's disease: the Epistasis Project.

scientific article published on 8 November 2011

Interactions between PPAR-α and inflammation-related cytokine genes on the development of Alzheimer's disease, observed by the Epistasis Project

scientific article published on 23 February 2012

Interrogating causal pathways linking genetic variants, small molecule metabolites, and circulating lipids

scientific article

Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship

scientific article

Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa

scientific article

LDL-cholesterol concentrations: a genome-wide association study

scientific article

Large scale association analysis of novel genetic loci for coronary artery disease

scientific article published on 22 January 2009

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 13 new susceptibility loci for coronary artery disease

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 provides insights into the genetic architecture and pathophysiology of type 2 diabetes

scientific article

Lifestyle may modify the glucose-raising effect of genetic loci. A study in the Greek population

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

scientific article (publication date: July 2009)

Linkage disequilibrium mapping via cladistic analysis of single-nucleotide polymorphism haplotypes

scientific article published on 13 May 2004

Localization of HuC (ELAVL3) to chromosome 19p13.2 by fluorescence in situ hybridization utilizing a novel tyramide labeling technique

scientific article

Loci at chromosomes 13, 19 and 20 influence age at natural menopause

scientific article

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

scientific article published on 11 October 2011

Loss of Cardioprotective Effects at the ADAMTS7 Locus as a Result of Gene-Smoking Interactions

scientific article published on May 2017

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

scientific article published on 18 June 2014

Low copy number of the salivary amylase gene predisposes to obesity.

scientific article published on 30 March 2014

Low-density lipoprotein receptor-related protein 5 polymorphisms are associated with bone mineral density in Greek postmenopausal women: an interaction with calcium intake

scientific article

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

scientific article

Male-pattern baldness susceptibility locus at 20p11.

scientific article

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

scientific article published on 02 September 2012

Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits

scientific article

Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci

scientific article published on 09 April 2013

Mendelian randomisation analyses find pulmonary factors mediate the effect of height on coronary artery disease

scientific article published on 27 March 2019

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci ⬇️

scientific article

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

scientific article

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 identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci

scientific article published on 12 September 2016

Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness

scientific article

Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism

scientific article

Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22

scientific article

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

scientific article

Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size

scientific article published in April 2009

Metabolomic markers reveal novel pathways of ageing and early development in human populations

scientific article published on 08 July 2013

Modifier effects between regulatory and protein-coding variation

scientific article

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

scientific article published on 15 October 2008

Multiple common variants for celiac disease influencing immune gene expression

scientific article

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

scientific article

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

scientific article (publication date: May 2002)

NME6: a new member of the nm23/nucleoside diphosphate kinase gene family located on human chromosome 3p21.3.

scientific article published in June 1999

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

scientific article published in October 2017

New gene functions in megakaryopoiesis and platelet formation

scientific article published on 30 November 2011

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

scientific article

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

scientific article

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

scientific article published on February 2016

New susceptibility locus for coronary artery disease on chromosome 3q22.3.

scientific article published on 08 February 2009

Newly identified genetic risk variants for celiac disease related to the immune response

scientific article

No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis ⬇️

scientific article published on 12 October 2016

No evidence in a large UK collection for celiac disease risk variants reported by a Spanish study

scientific article published in May 2008

No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls

scientific article

Novel genetic loci associated with long-term deterioration in blood lipid concentrations and coronary artery disease in European adults.

scientific article published on 17 November 2016

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

scientific article

Novel loci associated with increased risk of sudden cardiac death in the context of coronary artery disease

scientific article

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 mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy ⬇️

scientific article published on June 2007

Obesity accelerates epigenetic aging of human liver

scientific article

Overview of the MHC fine mapping data

scientific article

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

article

Patterns of cis regulatory variation in diverse human populations

scientific article

Physical Mapping of Chromosome 6: A Strategy for the Rapid Generation of Sequence-Ready Contigs

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

scientific article published on 26 May 2016

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 genetic analysis of Plasmodium falciparum parasites using a customized Illumina GoldenGate genotyping assay

scientific article

Population genomics of human gene expression

scientific article (publication date: October 2007)

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

Posterior Polymorphous Corneal Dystrophy in Czech Families Maps to Chromosome 20 and Excludes theVSX1Gene

article

Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression

scientific article

Predicting genome-wide DNA methylation using methylation marks, genomic position, and DNA regulatory elements

scientific article

Prediction of atrial fibrillation and stroke using machine learning models in UK Biobank

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

scientific article published on 22 December 2017

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

article

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

scientific article published on 16 March 2018

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

scientific article

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

scientific article published on 01 July 2019

RANTES/CCL5 and risk for coronary events: results from the MONICA/KORA Augsburg case-cohort, Athero-Express and CARDIoGRAM studies

scientific article

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

scientific article

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

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

scientific journal article

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

article

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

scientific article published on 9 April 2018

Relative impact of nucleotide and copy number variation on gene expression phenotypes

scientific article (publication date: 9 February 2007)

Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease

scientific article published on 24 March 2008

Replication by the Epistasis Project of the interaction between the genes for IL-6 and IL-10 in the risk of Alzheimer's disease

scientific article published on 23 August 2009

Report of the third international workshop on human chromosome 10 mapping and sequencing 1999

scientific article (publication date: 2000)

SNP allele frequency estimation in DNA pools and variance components analysis

scientific article published in May 2004

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

scientific article published on 19 December 2017

Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility

scientific article (publication date: July 2007)

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

scientific article

Seventy-five genetic loci influencing the human red blood cell

scientific article published on 5 December 2012

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

scientific article

Signatures of mutation and selection in the cancer genome

scientific article

Single Nucleotide Polymorphism (SNP) Panels for Rapid Positional Cloning in Zebrafish

scientific article published on 01 January 2011

Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes

scientific article

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

scientific article

Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases

scientific article

Smoking induces coordinated DNA methylation and gene expression changes in adipose tissue with consequences for metabolic health

Subsequent Event Risk in Individuals With Established Coronary Heart Disease

scientific article published on 21 March 2019

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

scientific article published on February 2017

The DNA sequence and analysis of human chromosome 13

scientific article

The DNA sequence and comparative analysis of human chromosome 10

scientific article

The DNA sequence and comparative analysis of human chromosome 20

scientific article

The HapMap project and its application to genetic studies of drug response

scientific article published on January 2004

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 Pakistan Risk of Myocardial Infarction Study: a resource for the study of genetic, lifestyle and other determinants of myocardial infarction in South Asia

scientific article published on 30 April 2009

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

scientific article

The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans

scientific article

The complete exon-intron structure of the 156-kb human gene NFKB1, which encodes the p105 and p50 proteins of transcription factors NF-kappa B and I kappa B-gamma: implications for NF-kappa B-mediated signal transduction

scientific article

The correlation between reading and mathematics ability at age twelve has a substantial genetic component

scientific article

The dopamine β-hydroxylase -1021C/T polymorphism is associated with the risk of Alzheimer's disease in the Epistasis Project

scientific article

The effect of genome-wide association scan quality control on imputation outcome for common variants ⬇️

scientific article published on 26 January 2011

The fine-scale structure of recombination rate variation in the human genome

scientific article

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

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 human NFKB3 gene encoding the p65 subunit of transcription factor NF-kappa B is located on chromosome 11q12

scientific article

The impact of SNP density on fine-scale patterns of linkage disequilibrium

scientific article published on 20 January 2004

The influence of recombination on human genetic diversity

scientific article

The isolation and high-resolution chromosomal mapping of human SOX14 and SOX21; two members of the SOX gene family related to SOX1, SOX2, and SOX3

scientific article

The largest prospective warfarin-treated cohort supports genetic forecasting

scientific article published on 23 June 2008

The link between family history and risk of type 2 diabetes is not explained by anthropometric, lifestyle or genetic risk factors: the EPIC-InterAct study

scientific article

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

scientific article

The molecular genetic architecture of self-employment

scientific article

The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X

scientific article published in Nature

The population pharmacokinetics of R- and S-warfarin: effect of genetic and clinical factors

scientific article published on January 2012

The portability of tagSNPs across populations: a worldwide survey

scientific article published on 8 February 2006

The power of genetic diversity in genome-wide association studies of lipids

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

scientific article

The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease

scientific article

The role of vitamin D receptor gene polymorphisms in the bone mineral density of Greek postmenopausal women with low calcium intake

scientific article

The sex-specific associations of the aromatase gene with Alzheimer's disease and its interaction with IL10 in the Epistasis Project

scientific article published on 05 June 2013

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

scientific article

Three Human Glutamate Dehydrogenase Genes (GLUD1, GLUDP2, and GLUDP3) Are Located on Chromosome 10q, but Are Not Closely Physically Linked

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

Transferrin and HFE genes interact in Alzheimer's disease risk: the Epistasis Project

scientific article

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

scientific article

Twenty loci associated with bone mineral density identified by large-scale meta-analysis of genome-wide association datasets

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

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

Visualizing chromosome mosaicism and detecting ethnic outliers by the method of "rare" heterozygotes and homozygotes (RHH)

scientific article published on 8 March 2010

Whole genome-amplified DNA: insights and imputation

scientific article published on April 2008

Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia

scientific article

Z extensions to the RHMAPPER package

scientific article published in January 1998

miR-133a regulates vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1), a key protein in the vitamin K cycle

scientific article published on January 2012

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