Lista de obras -

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 2021

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

artículo científico publicado en 2012

Alternative splicing of alters the risk for severe COVID-19

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

artículo científico publicado en 2021

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Common variants at 30 loci contribute to polygenic dyslipidemia

artículo científico publicado en 2009

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Discovery and refinement of loci associated with lipid levels

artículo científico publicado en 2013

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

artículo científico publicado en 2020

Evaluation of population stratification adjustment using genome-wide or exonic variants

scientific article published on 30 June 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Exome sequencing in suspected monogenic dyslipidemias

artículo científico publicado en 2015

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C

artículo científico publicado en 2015

Genetic associations with valvular calcification and aortic stenosis

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Inactivating mutations in NPC1L1 and protection from coronary heart disease

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19

Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis.

artículo científico publicado en 2016

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

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

artículo científico publicado en 2018

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

article

Phenotypic extremes in rare variant study designs

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

article

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

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

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 2019

Rare and low-frequency coding variants alter human adult height

artículo científico publicado en 2017

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

scientific journal article

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Lista de obras de

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

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

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

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

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

Alternative splicing of alters the risk for severe COVID-19

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

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

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

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

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

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

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

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

Common variants at 30 loci contribute to polygenic dyslipidemia

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

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

Discovery and refinement of loci associated with lipid levels

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

Evaluation of population stratification adjustment using genome-wide or exonic variants

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

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

Exome sequencing in suspected monogenic dyslipidemias

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

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

Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C

Genetic associations with valvular calcification and aortic stenosis

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

Inactivating mutations in NPC1L1 and protection from coronary heart disease

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

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

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

Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19

Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis.

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

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

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

Phenotypic extremes in rare variant study designs

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

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

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

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

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

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

Rare and low-frequency coding variants alter human adult height

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

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

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

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

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

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

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

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

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