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List of works by James P Pirruccello

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

scientific article published on 30 May 2013

Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia ⬇️

scientific article published on 08 March 2012

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

scientific article published on 07 May 2020

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

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

scientific article

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

scientific article

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

scientific article

Deep learning enables genetic analysis of the human thoracic aorta

scientific article published on 26 November 2021

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

scientific article

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

scientific article

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

scientific article published on 16 November 2020

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Lp(a) (Lipoprotein[a]) Concentrations and Incident Atherosclerotic Cardiovascular Disease: New Insights From a Large National Biobank

scientific article published on 29 October 2020

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

scientific article published on 06 November 2019

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

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

scientific article (publication date: 11 August 2012)

Titin Truncating Variants in Adults Without Known Congestive Heart Failure

scientific article published on 01 March 2020

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