James P. Pirruccello

This study identifies Rpl3l as a muscle-specific ribosomal protein that regulates chromatin insulation in atrial cardiomyocytes, linking genome structure to cardiac rhythm stability.

This study uses Mendelian randomization to show that higher glycemic traits are inversely associated with thoracic aortic diameters and reduced risk of aneurysm and dissection.

This study creates a gene regulation map of the human fetal heart to interpret genetic variants associated with congenital heart disease and cardiac traits, identifying valvular interstitial cells as key regulators.

The paper introduces SuShiE, a model that improves multi-ancestry fine-mapping of cis-molQTLs, identifying more genes and prioritizing functionally enriched variants.

The paper uses machine learning to analyze myocardial T1 time in UK Biobank data, identifying genetic loci and pathways associated with interstitial fibrosis and related cardiovascular diseases.

The paper shows adjusting for common variant polygenic scores improves rare variant association yield in 65 UK Biobank traits without increasing false positives.

The paper shows that variant effect sizes on quantitative endophenotypes support pathogenicity in monogenic disease genes.

The paper uses deep learning and genome-wide association studies to identify genetic loci associated with right heart structure and function in 40,000 individuals.

The paper identifies 51 known and 23 novel gene-disease associations using exome sequencing data from 200,000 UK Biobank participants, highlighting high-impact rare variants for 26 diseases and traits.

The paper uses machine learning to quantify liver fat from MRI data and identifies genetic variants associated with liver fat accumulation and related diseases.

This study uses deep learning to analyze aortic dimensions from MRI and identifies genetic loci associated with aortic diameter, highlighting SVIL as a key gene and developing a polygenic score for aneurysm risk.

This study shows that clonal hematopoiesis, especially with DDR gene mutations, increases the risk of peripheral artery disease and atherosclerosis.

This study finds that elevated blood pressure increases pneumonia risk and reduces pulmonary function, supported by both epidemiological and Mendelian randomisation analyses in the UK Biobank.

The paper investigates the association between age-related mosaic chromosomal alterations and infection risk in 767,891 individuals without blood cancer, finding increased infection susceptibility linked to mCAs.

This study identifies 26 novel genetic loci associated with cardiac structure and function using MRI data from 29,041 individuals and links them to dilated cardiomyopathy risk.

UK Biobank genetics of 38 blood and urine lab tests yields 1,857 independent loci; combining biomarker and disease polygenic scores improves FinnGen prediction of incident renal failure and alcoholic cirrhosis.