List of works - Gina M Peloso

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

scientific article (publication date: 17 August 2016)

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

scientific article

Discovery and refinement of loci associated with lipid levels

scientific article

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

scientific article (publication date: 11 August 2012)

Common variants at 30 loci contribute to polygenic dyslipidemia

scientific article

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

scientific article published on 18 June 2014

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

scientific article

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

scientific article

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

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

Genetic associations with valvular calcification and aortic stenosis

scientific article published on February 2013

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

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

scientific article

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

scientific journal article

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

scientific article published on 2 March 2016

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

scientific article

Inactivating mutations in NPC1L1 and protection from coronary heart disease

scientific article

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

scientific article

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

scientific article

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

scientific article published on 30 October 2017

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

scientific article published on 15 December 2013

A genetic risk score is associated with incident cardiovascular disease and coronary artery calcium: the Framingham Heart Study

scientific article published on 10 January 2012

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

scientific article

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

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

scientific article published on February 2017

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

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

Resequencing and clinical associations of the 9p21.3 region: a comprehensive investigation in the Framingham heart study

scientific article published on 11 January 2013

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

scientific article published on 26 September 2013

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

scientific article

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

Phenotypic extremes in rare variant study designs

scientific article published on September 9, 2015

A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern

scientific article

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

scientific article published on 6 March 2019

Exome sequencing in suspected monogenic dyslipidemias

scientific article

Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

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

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

scientific article

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

article

Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis

scientific article published on 21 November 2016

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

scientific article

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

scientific article published on 15 July 2016

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

scientific article published in Nature Communications

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

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

scientific article

Frequency of variants in Mendelian Alzheimer's disease genes within the Alzheimer's Disease Sequencing Project

scientific article published on 14 March 2025

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

scientific article

List of works by Gina M Peloso

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

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

Discovery and refinement of loci associated with lipid levels

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

Common variants at 30 loci contribute to polygenic dyslipidemia

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

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

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

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

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

Genetic associations with valvular calcification and aortic stenosis

Rare and low-frequency coding variants alter human adult height

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

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

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

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

Inactivating mutations in NPC1L1 and protection from coronary heart disease

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

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

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

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

A genetic risk score is associated with incident cardiovascular disease and coronary artery calcium: the Framingham Heart Study

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

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

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

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

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

Resequencing and clinical associations of the 9p21.3 region: a comprehensive investigation in the Framingham heart study

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

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

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

Phenotypic extremes in rare variant study designs

A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Exome sequencing in suspected monogenic dyslipidemias

Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

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

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

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

Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis

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

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

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

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

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

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

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

Frequency of variants in Mendelian Alzheimer's disease genes within the Alzheimer's Disease Sequencing Project

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

Clinical and Imaging Markers of Cardiac Function and Brain Health