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Lista de obras de Eleftheria Zeggini

A Bayesian Approach to the Overlap Analysis of Epidemiologically Linked Traits

artículo científico publicado en 2015

A Dietary Pattern with High Sugar Content Is Associated with Cardiometabolic Risk Factors in the Pomak Population

scientific article published on 13 December 2019

A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis

artículo científico publicado en 2017

A combined functional annotation score for non-synonymous variants

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

A functional promoter haplotype of macrophage migration inhibitory factor is linked and associated with juvenile idiopathic arthritis.

artículo científico publicado en 2004

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

artículo científico publicado en 2012

A genome-wide association study of anorexia nervosa

artículo científico publicado en 2014

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

artículo científico publicado en 2014

A molecular quantitative trait locus map for osteoarthritis

artículo científico publicado en 2021

A new era for Type 2 diabetes genetics

artículo científico publicado en 2007

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

artículo científico publicado en 2014

A novel variant in GLIS3 is associated with osteoarthritis.

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

artículo científico publicado en 2013

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

artículo científico publicado en 2014

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

A variant in MCF2L is associated with osteoarthritis

artículo científico publicado en 2011

ARIEL and AMELIA: testing for an accumulation of rare variants using next-generation sequencing data

artículo científico publicado en 2012

Accelerating functional gene discovery in osteoarthritis

artículo científico publicado en 2021

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

Advances in osteoarthritis genetics

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 2005

An evaluation of different meta-analysis approaches in the presence of allelic heterogeneity

artículo científico publicado en 2012

An evaluation of different target enrichment methods in pooled sequencing designs for complex disease association studies

artículo científico publicado en 2011

An evaluation of power to detect low-frequency variant associations using allele-matching tests that account for uncertainty

artículo científico publicado en 2011

An evaluation of statistical approaches to rare variant analysis in genetic association studies

artículo científico publicado en 2010

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

Association Analysis of 6,736 U.K. Subjects Provides Replication and ConfirmsTCF7L2as a Type 2 Diabetes Susceptibility Gene With a Substantial Effect on Individual Risk

article

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

artículo científico

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

artículo científico publicado en 2010

Association of HLA-DRB1*13 with susceptibility to uveitis in juvenile idiopathic arthritis in two independent data sets

artículo científico publicado en 2006

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

artículo científico publicado en 2007

Author Correction: Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Author Correction: Genomics of disease risk in globally diverse populations

artículo científico publicado en 2019

Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries

scientific article published on 01 June 2019

Biomedical Research Goes Viral: Dangers and Opportunities

scientific article published on 11 May 2020

CCRaVAT and QuTie-enabling analysis of rare variants in large-scale case control and quantitative trait association studies

artículo científico publicado en 2010

Chad Genetic Diversity Reveals an African History Marked by Multiple Holocene Eurasian Migrations

artículo científico publicado en 2016

Characterisation of the genomic architecture of human chromosome 17q and evaluation of different methods for haplotype block definition

artículo científico publicado en 2005

Circulating beta-carotene levels and type 2 diabetes-cause or effect?

artículo científico publicado en 2009

Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

artículo científico publicado en 2018

Combination therapy as a potential risk factor for the development of type 2 diabetes in patients with schizophrenia: the GOMAP study

article

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

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

scholarly article published in Nature Genetics

Defining the power limits of genome-wide association scan meta-analyses

artículo científico publicado en 2011

Dietary Intake, FTO Genetic Variants, and Adiposity: A Combined Analysis of Over 16,000 Children and Adolescents

artículo científico publicado en 2015

Directional dominance on stature and cognition in diverse human populations

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

Do genome-wide association scans have potential for translation?

artículo científico

Effects of chronic cobalt and chromium exposure after metal-on-metal hip resurfacing: An epigenome-wide association pilot study

artículo científico publicado en 2017

Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations

artículo científico

Epistatic interactions between HLA-DRB1 and interleukin 4, but not interferon-gamma, increase susceptibility to giant cell arteritis.

artículo científico publicado en 2004

Erratum to: The 2018 Otto Aufranc Award: How Does Genome-wide Variation Affect Osteolysis Risk After THA?

scientific article published on 01 March 2019

Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Estimating genome-wide significance for whole-genome sequencing studies

artículo científico publicado en 2014

Evaluating the glucose raising effect of established loci via a genetic risk score

artículo científico publicado en 2017

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

artículo científico publicado en 2010

Evaluation of shared genetic aetiology between osteoarthritis and bone mineral density identifies SMAD3 as a novel osteoarthritis risk locus

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Evidence for a novel rheumatoid arthritis susceptibility locus on chromosome 6p.

artículo científico publicado en 2004

Evidence for genetic contribution to the increased risk of type 2 diabetes in schizophrenia

scientific article published on 23 November 2018

Evidence for large-scale gene-by-smoking interaction effects on pulmonary function.

artículo científico publicado en 2017

Evidence for linkage of HLA loci in juvenile idiopathic oligoarthritis: Independent effects of HLA-A and HLA-DRB1

article

Examining the overlap between genome-wide rare variant association signals and linkage peaks in rheumatoid arthritis

artículo científico publicado en 2011

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

artículo científico publicado en 2005

Examining the statistical properties of fine-scale mapping in large-scale association studies

artículo científico publicado en 2008

Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa

artículo científico publicado en 2017

Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Family-based analysis of vitamin D receptor gene polymorphisms and type 1 diabetes in the population of South Croatia

artículo científico publicado en 2007

Fas mRNA EXPRESSION IN BLOOD IS REDUCED DURING EPISODES OF HUMAN CORNEAL GRAFT REJECTION1

scientific article published on 01 March 2001

Finding common susceptibility variants for complex disease: past, present and future

artículo científico publicado en 2009

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

artículo científico publicado en 2018

Functional annotation of noncoding sequence variants.

artículo científico publicado en 2014

Functional genomics in osteoarthritis: Past, present, and future

artículo científico publicado en 2016

GLIDERS--a web-based search engine for genome-wide linkage disequilibrium between HapMap SNPs.

artículo científico publicado en 2009

GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

artículo científico publicado en 2019

GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal

artículo científico publicado en 2023

Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes

artículo científico publicado en 2008

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scientific article published on 17 September 2018

Genetic analysis of over one million people identifies 535 novel loci for blood pressure

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications

article

Genetic architecture of human thinness compared to severe obesity

artículo científico publicado en 2019

Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

scientific journal article

Genetics of type 2 diabetes

artículo científico publicado en 2006

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

artículo científico publicado en 2015

Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

scholarly article

Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis.

artículo científico publicado en 2018

Genome-wide analysis of health-related biomarkers in the UK Household Longitudinal Study reveals novel associations

artículo científico publicado en 2017

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets

artículo científico publicado en 2017

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

artículo científico publicado en 2015

Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits

scientific journal article

Genome-wide association analysis of imputed rare variants: application to seven common complex diseases

artículo científico publicado en 2012

Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene

scientific article published on 14 October 2020

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

Genome-wide association studies in type 2 diabetes

artículo científico publicado en 2009

Genome-wide association study for osteoarthritis – Authors' reply

artículo científico publicado en 2013

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

artículo científico publicado en 2009

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

artículo científico publicado en 2019

Genome-wide association study in a Chinese population identifies a susceptibility locus for type 2 diabetes at 7q32 near PAX4.

artículo científico publicado en 2013

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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

Genome-wide association study of developmental dysplasia of the hip identifies an association with

artículo científico publicado en 2018

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

artículo científico publicado en 2014

Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts

artículo científico publicado en 2012

Genome-wide associations for birth weight and correlations with adult disease

artículo científico publicado en 2016

Genome-wide mapping identifies beta-1,4-N-acetyl-galactosaminyl-transferase as a novel determinant of sclerostin levels and bone mineral density

Genome-wide meta-analysis of common variant differences between men and women

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Genomics of disease risk in globally diverse populations

scientific article published on 24 June 2019

Glucocorticoid sensitivity is determined by a specific glucocorticoid receptor haplotype

artículo científico publicado en 2004

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

artículo científico publicado en 2015

Height-reducing variants and selection for short stature in Sardinia

artículo científico publicado en 2015

High-throughput DNA methylation analysis in anorexia nervosa confirms TNXB hypermethylation

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2019

Identification of novel putative rheumatoid arthritis susceptibility genes via analysis of rare variants

artículo científico publicado en 2009

Identifying Susceptibility Variants for Type 2 Diabetes

Identifying Susceptibility Variants for Type 2 Diabetes

Imputation of rare variants in next-generation association studies

artículo científico publicado en 2012

In search of low-frequency and rare variants affecting complex traits

artículo científico publicado en 2013

Insights into metabolic disease from studying genetics in isolated populations: stories from Greece to Greenland

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Integrative epigenomics, transcriptomics and proteomics of patient chondrocytes reveal genes and pathways involved in osteoarthritis.

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?

artículo científico publicado en 2009

Lack of association between juvenile idiopathic arthritis and fas gene polymorphism

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis

artículo científico publicado en 2015

Linkage analysis of cross-sectional and longitudinally derived phenotypic measures to identify loci influencing blood pressure

artículo científico publicado en 2003

Linkage and association studies of discoidin domain receptor 1 (DDR1) single nucleotide polymorphisms (SNPs) in juvenile oligoarthritis

artículo científico publicado en 2004

Linkage and association studies of single-nucleotide polymorphism-tagged tumor necrosis factor haplotypes in juvenile oligoarthritis

artículo científico publicado en 2002

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

artículo científico publicado en 2009

Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

scientific article published in Nature Communications

Low-frequency variation inTP53has large effects on head circumference and intracranial volume

MCP-1 gene haplotype association in biopsy proven giant cell arteritis

article

Mapping the serum proteome to neurological diseases using whole genome sequencing

artículo científico publicado en 2021

Maternal and fetal genetic contribution to gestational weight gain

article

Maternal and fetal genetic contribution to gestational weight gain.

artículo científico publicado en 2017

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

artículo científico publicado en 2019

Mendelian Randomization Analysis Reveals a Causal Influence of Circulating Sclerostin Levels on Bone Mineral Density and Fractures

scientific article published on 02 August 2019

Meta-Analysis of Rare Variants

Meta-analysis in genome-wide association studies

artículo científico publicado en 2009

Meta-analysis of exome array data identifies six novel genetic loci for lung function

scientific article published on 12 January 2018

Meta-analysis of exome array data identifies six novel genetic loci for lung function

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2019

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

article

Mutation screening of the macrophage migration inhibitory factor gene: positive association of a functional polymorphism of macrophage migration inhibitory factor with juvenile idiopathic arthritis

artículo científico publicado en 2002

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries

artículo científico publicado en 2019

New genetic signals for lung function highlight pathways and pleiotropy, and chronic obstructive pulmonary disease associations across multiple ancestries

scholarly article published 12 June 2018

Next-generation association studies for complex traits

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

artículo científico publicado en 2017

Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2020

Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease

artículo científico publicado en 2021

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

article

PW01-038 – Genomewide association study of Still’s disease

artículo científico publicado en 2013

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

article

Pathways to understanding the genomic aetiology of osteoarthritis

artículo científico publicado en 2017

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

artículo científico publicado en 2006

Polymorphisms in the tumour necrosis factor gene are not associated with severity of inflammatory polyarthritis

artículo científico publicado en 2004

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

artículo científico publicado en 2008

Population-wide copy number variation calling using variant call format files from 6,898 individuals

Population-wide copy number variation calling using variant call format files from 6,898 individuals

artículo científico publicado en 2019

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

article

ProxECAT: Proxy External Controls Association Test. A new case-control gene region association test using allele frequencies from public controls

article

Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

scientific article published on 24 May 2019

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scholarly article published in Nature Genetics

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

erratum

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Radiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysis

artículo científico publicado en 2016

Ranking of genome-wide association scan signals by different measures

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Rare Variant Association Analysis Methods for Complex Traits ⬇️

artículo científico publicado el 1 de enero de 2010

Rare and low frequency variant stratification in the UK population: description and impact on association tests.

artículo científico publicado en 2012

Rare and low-frequency coding variants alter human adult height

artículo científico publicado en 2017

Rare variant association testing for next-generation sequencing data via hierarchical clustering

artículo científico publicado en 2012

Rare variation at the TNFAIP3 locus and susceptibility to rheumatoid arthritis

artículo científico publicado en 2010

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.

artículo científico publicado en 2018

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

article published in 2007

Replication in Genome-Wide Association Studies

artículo científico publicado en 2009

Replication of established common genetic variants for adult BMI and childhood obesity in Greek adolescents: the TEENAGE study

artículo científico publicado en 2013

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

artículo científico publicado en 2007

Reply to Dlouha et al.

artículo científico publicado en 2010

Reply to “Human genetic studies on osteoarthritis from clinicians’ viewpoints”

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Sex-specific differences in effect size estimates at established complex trait loci

artículo científico publicado en 2012

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

artículo científico publicado en 2020

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

artículo científico publicado en 2006

Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Statistical methods to detect pleiotropy in human complex traits

artículo científico publicado en 2017

Strengthening Causal Inference for Complex Disease Using Molecular Quantitative Trait Loci

scientific article published on 09 November 2019

Synthetic associations are unlikely to account for many common disease genome-wide association signals

artículo científico publicado en 2011

Synthetic associations in the context of genome-wide association scan signals

artículo científico publicado en 2010

Systemic juvenile idiopathic arthritis is associated with HLA-DRB1 in Europeans and Americans of European descent

artículo científico publicado en 2012

TCF7L2: the biggest story in diabetes genetics since HLA?

artículo científico publicado en 2007

Testing for rare variant associations in complex diseases

artículo científico publicado en 2009

The 2018 Otto Aufranc Award: How Does Genome-wide Variation Affect Osteolysis Risk After THA?

scientific article published on 01 February 2019

The African Genome Variation Project shapes medical genetics in Africa

artículo científico publicado en 2014

The DOT1L rs12982744 polymorphism is associated with osteoarthritis of the hip with genome-wide statistical significance in males

artículo científico publicado en 2013

The Genetic Epidemiology of Joint Shape and the Development of Osteoarthritis

scientific article published on 11 May 2020

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

artículo científico publicado en 2015

The UK10K project identifies rare variants in health and disease

artículo científico publicado en 2015

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

article

The effect of FTO variation on increased osteoarthritis risk is mediated through body mass index: a Mendelian randomisation study

artículo científico publicado en 2013

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

artículo científico publicado en 2011

The effect of next-generation sequencing technology on complex trait research

artículo científico publicado en 2011

The genetic architecture of type 2 diabetes

artículo científico publicado en 2016

The influence of rare variants in circulating metabolic biomarkers

artículo científico publicado en 2020

The mountainous Cretan dietary patterns and their relationship with cardiovascular risk factors: the Hellenic Isolated Cohorts MANOLIS study.

artículo científico publicado en 2016

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

The transferability of lipid loci across African, Asian and European cohorts

artículo científico publicado en 2019

The type 1 diabetes susceptibility gene SUMO4 at IDDM5 is not associated with susceptibility to rheumatoid arthritis or juvenile idiopathic arthritis

article

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

artículo científico publicado en 2016

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

scientific article published on 21 December 2018

Trans-ethnic study design approaches for fine-mapping

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Translational genomics and precision medicine: Moving from the lab to the clinic

artículo científico publicado en 2019

Tumour necrosis factor receptor II polymorphism and juvenile idiopathic arthritis

artículo científico publicado en 2002

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

artículo científico publicado en 2010

Type 2 diabetes

Type 2 diabetes genetics: starting to solve the puzzle

article

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

artículo científico publicado en 2009

Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa

scientific article published on 01 October 2019

Underlying genetic models of inheritance in established type 2 diabetes associations

artículo científico publicado en 2009

Using ancestry-informative markers to identify fine structure across 15 populations of European origin

artículo científico publicado en 2014

Using genetically isolated populations to understand the genomic basis of disease

artículo científico publicado en 2014

Using population isolates in genetic association studies

artículo científico publicado en 2014

Variants in MTNR1B influence fasting glucose levels

artículo científico publicado en 2008

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

Very low depth whole genome sequencing in complex trait association studies

Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation

artículo científico publicado en 2016

Very low-depth whole-genome sequencing in complex trait association studies

scientific article published on 01 August 2019

Whole exome re-sequencing implicates CCDC38 and cilia structure and function in resistance to smoking related airflow obstruction.

artículo científico publicado en 2014

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

artículo científico publicado en 2017

Whole-exome sequencing in an isolated population from the Dalmatian island of Vis

artículo científico publicado en 2016

Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: comparison with microsatellites

artículo científico publicado en 2004

Whole-genome sequence-based analysis of thyroid function.

artículo científico publicado en 2015

Whole-genome sequencing analysis of the cardiometabolic proteome

artículo científico publicado en 2020

Widespread epigenomic, transcriptomic and proteomic differences between hip osteophytic and articular chondrocytes in osteoarthritis

Will the real disease gene please stand up?

artículo científico publicado en 2005

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