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List of works by Mark D Chaffin

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

scientific article

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

scientific article published on 13 April 2020

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

scientific article published on 24 April 2018

Aortic Cellular Diversity and Quantitative Genome-Wide Association Study Trait Prioritization Through Single-Nuclear RNA Sequencing of the Aneurysmal Human Aorta

scientific article published in 2022

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

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

article published in 2017

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

scientific article

Deep learning enables genetic analysis of the human thoracic aorta

scientific article published on 26 November 2021

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

Epigenetic Analyses of Human Left Atrial Tissue Identifies Gene Networks Underlying Atrial Fibrillation

scientific article published on 06 November 2020

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

scientific article published in July 2017

Genetic Variation in Cardiometabolic Traits and Medication Targets and the Risk of Hypertensive Disorders of Pregnancy

scientific article published on 17 August 2020

Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease.

scientific article

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

article

Genome-Wide Polygenic Score, Clinical Risk Factors, and Long-Term Trajectories of Coronary Artery Disease

scientific article published on 22 September 2020

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 Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

scientific article published on 09 January 2020

Genome-wide association study of peripheral artery disease in the Million Veteran Program

scientific article published on 08 July 2019

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

Genomic and metabolic diversity of Marine Group I Thaumarchaeota in the mesopelagic of two subtropical gyres

scientific article published on 17 April 2014

Heritability of Atrial Fibrillation

scientific article published in December 2017

Identification of Functional Variant Enhancers Associated with Atrial Fibrillation

scientific article published on 06 April 2020

Integrated analyses of single-cell atlases reveal age, gender, and smoking status associations with cell type-specific expression of mediators of SARS-CoV-2 viral entry and highlights inflammatory programs in putative target cells

scientific article published on 21 April 2020

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

scientific article

Leveraging Human Genetics to Estimate Clinical Risk Reductions Achievable by Inhibiting Factor XI

scientific article published on 27 September 2019

Limitations of Contemporary Guidelines for Managing Patients at High Genetic Risk of Coronary Artery Disease

scientific article published on 01 June 2020

Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results From a National Biobank

scientific article published on 06 November 2019

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

scientific article published on 21 May 2020

Multi-ethnic genome-wide association study for atrial fibrillation

article

Myocyte Specific Upregulation of ACE2 in Cardiovascular Disease: Implications for SARS-CoV-2 Mediated Myocarditis

scientific article published on 22 June 2020

Myocyte Specific Upregulation of ACE2 in Cardiovascular Disease: Implications for SARS-CoV-2 mediated myocarditis

scientific article published on 14 April 2020

Phenotypic Refinement of Heart Failure in a National Biobank Facilitates Genetic Discovery

scientific article published on 11 November 2018

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

scientific article published on 01 April 2019

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

Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease

scientific article published on 01 May 2019

Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease

scientific article published on 07 November 2019

Response by Aragam et al to Letter Regarding Article, "Phenotypic Refinement of Heart Failure in a National Biobank Facilitates Genetic Discovery"

scientific article published on 01 July 2019

Single-cell meta-analysis of SARS-CoV-2 entry genes across tissues and demographics

scholarly article by Christoph Muus published in March 2021

Titin Truncating Variants in Adults Without Known Congestive Heart Failure

scientific article published on 01 March 2020

Transcriptional and Cellular Diversity of the Human Heart

scientific article published on 14 May 2020

Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians

scientific article published on 01 August 2020

Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction

scientific article published on 01 March 2019

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