Amelia Weber Hall

This study identifies 12 enhancers in the 9p21.3 CAD risk locus that regulate MTAP, modulating vascular cell-state transitions and CAD risk through stress-responsive mechanisms.

This study maps the transcriptional landscape of the rat cardiovascular system at single-cell resolution, identifying 26 cell types and revealing tissue-specific molecular diversity and communication networks.

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

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.

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.

The paper uses single-nucleus RNA sequencing to define the transcriptional and cellular diversity of the non-failing human heart, identifying 9 major cell types and 20 subclusters.

This study identifies 210 genetic loci associated with the PR interval through multi-ancestry GWAS, highlighting their role in cardiac conduction and cardiovascular disease.

The paper generates Hi-C data from human cardiac tissue and develops a method to identify regulatory interactions, showing how disease variants intersect with these interactions to prioritize causative genes.