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List of works by Sekar Kathiresan

A PCSK9 missense variant associated with a reduced risk of early-onset myocardial infarction

scientific article published in May 2008

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

scientific article

A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study

scientific article

A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease

scientific article

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

scientific article

A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease

scientific article published on June 2016

A human APOC3 missense variant and monoclonal antibody accelerate apoC-III clearance and lower triglyceride-rich lipoprotein levels

scientific article

A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses

scientific article

A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia

scientific article published on 30 May 2013

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

scientific article published on 28 January 2016

A structural variation reference for medical and population genetics

scientific article published on 27 May 2020

ANGPTL3 Deficiency and Protection Against Coronary Artery Disease

scientific article published on 29 March 2017

APOE p.Leu167del mutation in familial hypercholesterolemia.

scientific article

Age-related clonal hematopoiesis associated with adverse outcomes

scientific article

Aggregate penetrance of genomic variants for actionable disorders in European and African Americans

scientific article published on November 2016

Aging syndrome genes and premature coronary artery disease

scientific article

An eMERGE Clinical Center at Partners Personalized Medicine

scientific article

An electronic cardiac rehabilitation referral system increases cardiac rehabilitation referrals

scientific article

An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia

scientific article published on 19 May 2011

Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy

scientific article published on 07 May 2020

Analysis of gene-gene interactions among common variants in candidate cardiovascular genes in coronary artery disease

scientific article

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

scientific article published on 24 April 2018

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

scientific article (publication date: 17 August 2016)

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

scientific article

Assessment by cardiovascular magnetic resonance, electron beam computed tomography, and carotid ultrasonography of the distribution of subclinical atherosclerosis across Framingham risk strata

scientific article

Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation

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

scientific article (publication date: November 2010)

Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fasting, postprandial, and fenofibrate-treated states

scientific article published on 03 December 2008

Association of APOC3 Loss-of-Function Mutations With Plasma Lipids and Subclinical Atherosclerosis: The Multi-Ethnic BioImage Study

scientific article published in November 2015

Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study

scientific article published on 15 July 2016

Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease

scientific article

Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III.

scientific article published on 14 April 2009

Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure

scientific article published on 15 February 2009

Association of exome sequences with plasma C-reactive protein levels in >9000 participants

scientific article

Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies

scientific article published on 16 December 2012

Association of low-density lipoprotein cholesterol-related genetic variants with aortic valve calcium and incident aortic stenosis

scientific article

Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts

scientific article published on April 2009

Association of sickle cell trait with chronic kidney disease and albuminuria in African Americans

scientific article

Association study of common genetic variants and HIV-1 acquisition in 6,300 infected cases and 7,200 controls

scientific article

Associations of long-term and early adult atherosclerosis risk factors with aortic and mitral valve calcium

scientific article

Bayesian meta-analysis of genetic association studies with different sets of markers

scientific article published on April 2008

Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium

scientific article

Biological and clinical insights from genetics of insomnia symptoms

article

Biological and clinical insights from genetics of insomnia symptoms

scientific article published on 25 February 2019

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

scientific article

Biomarkers of the osteoprotegerin pathway: clinical correlates, subclinical disease, incident cardiovascular disease, and mortality

scientific article

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts

scientific article

CCL2 polymorphisms are associated with serum monocyte chemoattractant protein-1 levels and myocardial infarction in the Framingham Heart Study

scientific article

Candidate gene association resource (CARe): design, methods, and proof of concept

scientific article

Cardiovascular Event Prediction and Risk Reclassification by Coronary, Aortic, and Valvular Calcification in the Framingham Heart Study

scientific article published on 22 February 2016

Causal Assessment of Serum Urate Levels in Cardiometabolic Diseases Through a Mendelian Randomization Study

scientific article

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

scientific article

Clinical and genetic association of serum paraoxonase and arylesterase activities with cardiovascular risk

scientific article

Clinical and genetic correlates of aldosterone-to-renin ratio and relations to blood pressure in a community sample

scientific article published on 12 February 2007

Clinical and genetic correlates of serum aldosterone in the community: the Framingham Heart Study

scientific article published in May 2005

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis

scientific article published on 20 September 2013

Common Genetic Variation at the Endothelial Nitric Oxide Synthase Locus and Relations to Brachial Artery Vasodilator Function in the Community

Common Genetic Variation in Five Thrombosis Genes and Relations to Plasma Hemostatic Protein Level and Cardiovascular Disease Risk

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 loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease

scientific article

Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations

scientific article

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 30 loci contribute to polygenic dyslipidemia

scientific article

Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction

scientific article

Comprehensive Survey of Common Genetic Variation at the Plasminogen Activator Inhibitor-1 Locus and Relations to Circulating Plasminogen Activator Inhibitor-1 Levels

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

scientific article published on 28 December 2016

Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

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

scientific article

Contribution of Clinical Correlates and 13 C-Reactive Protein Gene Polymorphisms to Interindividual Variability in Serum C-Reactive Protein Level

article

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

Cross-sectional relations of multiple biomarkers from distinct biological pathways to brachial artery endothelial function

scientific article published on 13 February 2006

DASH: a method for identical-by-descent haplotype mapping uncovers association with recent variation

scientific article

DNA Sequence Variation in Encoding the Activin-Receptor Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 Diabetes

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

scientific article

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

article published in 2017

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

scientific article published in Nature Communications

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

Defining the spectrum of alleles that contribute to blood lipid concentrations in humans

scientific article published on April 2008

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation

scientific article published on 11 October 2012

Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study: A Genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls

scientific article

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

scientific article

Discovery and refinement of loci associated with lipid levels

scientific article

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

scientific article

Dysfunctional nitric oxide signalling increases risk of myocardial infarction

scientific article published on 10 November 2013

Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population

scientific article

Erratum: Corrigendum: Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

scholarly article published in Nature Genetics

Erratum: Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation

scientific article published in July 2017

Evaluation of the Pooled Cohort Equations for Prediction of Cardiovascular Risk in a Contemporary Prospective Cohort

scientific article

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

scientific journal article

Excess of rare variants in non-genome-wide association study candidate genes in patients with hypertriglyceridemia

scientific article published on December 2011

Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

scientific article

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

scientific article published on 30 October 2017

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

scientific article published on 26 September 2013

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

scientific article

Exome sequencing in suspected monogenic dyslipidemias

scientific article

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

scientific article

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

scientific article published on 30 October 2017

FTO genotype is associated with phenotypic variability of body mass index

scientific article published on 16 September 2012

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

scientific article published on 22 May 2017

Fine-mapping in African Americans of 8 recently discovered genetic loci for plasma lipids: the Jackson Heart Study

scientific article

Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis

scientific article

Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations

scientific article

Gene-gene Interaction Analyses for Atrial Fibrillation

scientific article

Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor

scientific article published on April 2017

Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure

article published in 2018

Genetic Predisposition to Higher Blood Pressure Increases Coronary Artery Disease Risk ⬇️

scientific article published on March 11, 2013

Genetic Risk Prediction of Atrial Fibrillation

scientific article published on 28 October 2016

Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease

scientific article

Genetic Risk, Lifestyle, and Coronary Artery Disease

scientific article

Genetic Variation at the Sulfonylurea Receptor, Type 2 Diabetes, and Coronary Heart Disease

scientific article published on 14 April 2017

Genetic analysis for a shared biological basis between migraine and coronary artery disease

scientific article published on June 2015

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 associations with valvular calcification and aortic stenosis

scientific article published on February 2013

Genetic determinants of plasma triglycerides ⬇️

scientific article published on November 1, 2010

Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study

scientific article published in January 2009

Genetic evidence of assortative mating in humans

scholarly article

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

scientific article

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

scientific article published on 13 June 2018

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

scientific article

Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials

scientific article

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

scientific article

Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data

scientific article

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

scientific article published on 6 October 2011

Genetic variants primarily associated with type 2 diabetes are related to coronary artery disease risk

scientific article

Genetically determined height and coronary artery disease

scientific article

Genetics and causality of triglyceride-rich lipoproteins in atherosclerotic cardiovascular disease

scientific article

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program

article

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels

scientific article (publication date: June 2007)

Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease

scientific article published on 01 November 2019

Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study

scientific article

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

scientific article

Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study

scientific article published in 2007

Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation

scientific article

Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.

scientific article

Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction

scientific article

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

scientific article (publication date: June 2009)

Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease

scientific article

Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension

scientific article

Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project

scientific article

Genome-wide association with select biomarker traits in the Framingham Heart Study

scientific article

Genome-wide identification of microRNAs regulating cholesterol and triglyceride homeostasis

scientific article published on 26 October 2015

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

scientific journal article

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

article by Amit V Khera et al published September 2018 in Nature Genetics

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

scientific article

Glycated albumin and direct low density lipoprotein cholesterol levels in type 2 diabetes mellitus

scientific article published on 22 May 2009

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

scientific article published on 24 September 2014

HapMap and mapping genes for cardiovascular disease

scientific article

Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism

scientific article

Heritability of Atrial Fibrillation

scientific article published in December 2017

Heritability, Linkage, and Genetic Associations of Exercise Treadmill Test Responses

article

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

scientific article published on April 2017

Human knockouts in a cohort with a high rate of consanguinity

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

scientific article

Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction

scientific article

Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies

scientific article

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

scientific article published on April 2013

In vivo CRISPR base editing of PCSK9 durably lowers cholesterol in primates ⬇️

scientific article

Inactivating mutations in NPC1L1 and protection from coronary heart disease

scientific article

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants

scientific article published on 30 December 2013

Increased small low-density lipoprotein particle number: a prominent feature of the metabolic syndrome in the Framingham Heart Study

scientific article published on 27 December 2005

Induced Pluripotent Stem Cell Differentiation Enables Functional Validation of GWAS Variants in Metabolic Disease

scientific article published on April 2017

Inflammation, kidney function and albuminuria in the Framingham Offspring cohort

scientific article

Inflammatory biomarkers are associated with total brain volume: the Framingham Heart Study

scientific article published on March 2007

Influence of 9p21.3 Genetic Variants on Clinical and Angiographic Outcomes in Early-Onset Myocardial Infarction

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

scientific article published on 14 October 2020

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

scientific article published on 14 October 2020

Integrative genomics reveals novel molecular pathways and gene networks for coronary artery disease.

scientific article

Ion mobility analysis of lipoprotein subfractions identifies three independent axes of cardiovascular risk

scientific article published on 03 September 2009

Is Coronary Atherosclerosis One Disease or Many? Setting Realistic Expectations for Precision Medicine

scientific article

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

scientific article

Large, Diverse Population Cohorts of hiPSCs and Derived Hepatocyte-like Cells Reveal Functional Genetic Variation at Blood Lipid-Associated Loci

scientific article published in April 2017

Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

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

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

scientific article

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 SLC30A8 protect against type 2 diabetes

scientific article

Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans

scientific article published on 16 March 2009

Mendelian Randomization

scientific article published in November 2017

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 six new susceptibility loci for atrial fibrillation

scientific article published on 29 April 2012

Meta-analysis of gene-level tests for rare variant association

scientific article published on 15 December 2013

Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque

scientific article published on 11 September 2011

Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol

scientific article

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

scientific article

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project

scientific article

Multi-ethnic genome-wide association study for atrial fibrillation

article

Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis.

scientific article published on 21 November 2016

Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease

scientific article (publication date: 17 September 2013)

Multiple associated variants increase the heritability explained for plasma lipids and coronary artery disease

scientific article

Multiple inflammatory biomarkers in relation to cardiovascular events and mortality in the community

scientific article published on 02 May 2013

Myocardial Infarction-Associated SNP at 6p24 Interferes With MEF2 Binding and Associates With PHACTR1 Expression Levels in Human Coronary Arteries

scientific article published on 2 April 2015

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

scientific article published on 08 February 2009

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

scientific article published on 12 October 2016

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

scientific article

Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium

scientific article

Novel genetic markers associate with atrial fibrillation risk in Europeans and Japanese

scientific article published on 30 January 2014

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

Observational and Genetic Associations of Resting Heart Rate With Aortic Valve Calcium.

scientific article

On the significance of linkage studies of complex traits

scientific article published on July 2004

PAI-1 Gene 4G/5G polymorphism and risk of type 2 diabetes in a population-based sample

scientific article published in May 2006

PCSK9 Inhibitors

article from 2016

Pericardial fat volume correlates with inflammatory markers: the Framingham Heart Study

scientific article

Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels

scientific article published on December 2016

Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling

scientific article published on 5 October 2017

Phenotypic extremes in rare variant study designs

scientific article published on 9 September 2015

Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals

scientific article

Polygenic Risk Score Identifies Subgroup With Higher Burden of Atherosclerosis and Greater Relative Benefit From Statin Therapy in the Primary Prevention Setting

scientific article published on 21 February 2017

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

scientific article published on 20 August 2020

Polymorphisms associated with cholesterol and risk of cardiovascular events

scientific article

Polymorphisms at newly identified lipid-associated loci are associated with blood lipids and cardiovascular disease in an Asian Malay population

scientific article

Polymorphisms in the endothelial nitric oxide synthase gene and bone density/ultrasound and geometry in humans

scientific article published on 29 September 2007

Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants

Predicting stroke through genetic risk functions: the CHARGE Risk Score Project

scientific article (publication date: February 2014)

Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia

scientific article

Prospective functional classification of all possible missense variants in PPARG.

scientific article published on 17 October 2016

Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease

scientific article published on 15 May 2017

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

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

scientific article published in Nature Communications

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

scientific article published on 01 April 2020

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

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

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

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

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

Relation of multiple inflammatory biomarkers to incident atrial fibrillation

scientific article

Relations of long-term and contemporary lipid levels and lipid genetic risk scores with coronary artery calcium in the framingham heart study

scientific article published on 7 November 2012

Reply: Loss-of-Function Mutations to Estimate Pharmacological ANGPTL3 Inhibition

scientific article published in October 2017

Response to Letter Regarding Article, “Cross-Sectional Relations of Multiple Biomarkers From Distinct Biological Pathways to Brachial Artery Endothelial Function”

Risk prediction by genetic risk scores for coronary heart disease is independent of self-reported family history

scientific article published on 20 September 2015

SNPs and coronary heart disease – Authors' reply

scientific article published in The Lancet

Searching for missing heritability: designing rare variant association studies

scientific article published on 17 January 2014

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

scientific article

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

scientific article

Small dense low-density lipoprotein-cholesterol concentrations predict risk for coronary heart disease: the Atherosclerosis Risk In Communities (ARIC) study

scientific article published on 20 February 2014

Strong association of the APOA5-1131T>C gene variant and early-onset acute myocardial infarction

scientific article

Surprises From Genetic Analyses of Lipid Risk Factors for Atherosclerosis

scientific article published on February 2016

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

scientific article published on February 2017

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction

scientific article published on 3 February 2015

Systems Genetics Analysis of Genome-Wide Association Study Reveals Novel Associations Between Key Biological Processes and Coronary Artery Disease

scientific article published on 14 May 2015

Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution

scientific article

Testing for an unusual distribution of rare variants

scientific article

The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports

scientific article

The Human Cell Atlas White Paper ⬇️

journal article from 'arXiv:1810.05192 [q-bio]' published in 2018

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 association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease

scientific article published in October 2010

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

scientific article

The mouse QTL map helps interpret human genome-wide association studies for HDL cholesterol

scientific article

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

scientific article published on 12 September 2016

Triglyceride response to an intensive lifestyle intervention is enhanced in carriers of the GCKR Pro446Leu polymorphism

scientific article

Twelve-single nucleotide polymorphism genetic risk score identifies individuals at increased risk for future atrial fibrillation and stroke

scientific article

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

scientific article published on 03 October 2016

Vascular stiffness and genetic variation at the endothelial nitric oxide synthase locus: the Framingham Heart study

scientific article published on 2 April 2007

Visceral and subcutaneous adipose tissue volumes are cross-sectionally related to markers of inflammation and oxidative stress: the Framingham Heart Study

scientific article (publication date: 11 September 2007)

Vitamin K and vitamin D status: associations with inflammatory markers in the Framingham Offspring Study

scientific article

Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.

scientific article published on 3 October 2015

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

scientific article

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