Thomas Quertermous

An in vitro System for Studying Osteochondrogenic Differentiation of Smooth Muscle Cells and Modeling Intimal Vascular Calcification

This paper develops an in vitro system that mimics osteochondrogenic differentiation of smooth muscle cells and intimal vascular calcification, showing distinct transcriptional states compared to standard calcification assays.

Transcriptomic, Specific Marker, and Pathway Analysis of Smooth Muscle Cell Foam Cells Relative to Macrophage Foam Cells in Human Atherosclerosis

Smooth muscle foam cells in early-to-intermediate human coronary plaques map to fibromyocytes, express CFH and SERPINE1 unlike macrophage foam cells, and show matrix, coagulation and angiogenesis programs.

A Perturb-seq screen guided by species divergence uncovers pathways for collateral artery formation

The paper uses Perturb-seq in mice to identify genes that promote collateral artery formation by comparing gene expression between guinea pigs and mice.

Vascular smooth muscle cell atherosclerosis trajectories characterized at single cell resolution identify causal transcriptomic and epigenomic mechanisms of disease risk

The paper characterizes atherosclerosis trajectories in vascular smooth muscle cells using single-cell data and identifies causal transcriptomic and epigenomic mechanisms of CAD risk.

Targeting Modulated Vascular Smooth Muscle Cells in Atherosclerosis via FAP-Directed Immunotherapy

Single-cell and spatial maps of human coronary arteries identify FAP as a marker of SMC-derived modulated cells; an anti-FAP BiTE reduced plaque burden in mouse models.

A cell and transcriptome atlas of human arterial vasculature

This study creates a transcriptomic and spatial atlas of human arterial segments, revealing cell-type and segment-specific heterogeneity linked to vascular disease risk.

Smooth muscle expression of RNA editing enzyme ADAR1 controls activation of RNA sensor MDA5 in atherosclerosis

The paper links ADAR1-mediated RNA editing in smooth muscle cells to regulation of MDA5 activation, showing its role in atherosclerosis progression and vascular calcification.

Enhancer-targeting CRISPR screens at coronary artery disease loci suggest shared mechanisms of disease risk

The paper identifies causal genetic mechanisms at CAD GWAS loci using CRISPR screens and chromatin analysis, revealing enhancer-gene links and ancestry/sex-specific risk factors.

A primate model organism for cardiac arrhythmias identifies a magnesium transporter in pacemaker function

The paper identifies a magnesium transporter, SLC41A2, as critical for primate cardiac pacemaker function using a mouse lemur model of arrhythmias.

Interpreting variants associated with congenital heart disease with a regulatory map of the human fetal heart

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.

Single cell variant to enhancer to gene map for coronary artery disease

This paper links CAD GWAS variants to causal genes in SMCs using single-cell chromatin accessibility and Hi-C data, creating a scV2E2G map for disease mechanism discovery.

A functional genomic framework to elucidate novel causal non-alcoholic fatty liver disease genes

This study identifies novel causal genes for NAFLD using a combination of GWAS, genetic colocalization, and CRISPRi functional screens.

The alpha-2A-adrenergic receptor (ADRA2A) modulates susceptibility to Raynaud's syndrome

This study identifies ADRA2A as a major risk locus for Raynaud's syndrome through genome-wide association analysis and functional validation in vascular smooth muscle cells.

Single nuclei multiomic analyses identify human cardiac lymphatic endothelial cells associated with coronary arteries in the epicardium

The paper identifies a novel population of cardiac lymphatic endothelial cells in human fetal hearts associated with coronary arteries using single nuclei multiomic analysis.

Molecular mechanisms of coronary artery disease risk at the PDGFD locus

This study identifies PDGFD as a CAD risk gene, showing it promotes SMC expansion, migration, and inflammation, contributing to vascular calcification and plaque recruitment.

Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease

This study uses single-cell chromatin accessibility analysis to identify developmental trajectories and non-coding mutations associated with congenital heart disease.

CROP-Seq: a single-cell CRISPRi platform for characterizing candidate genes relevant to metabolic disorders in human adipocytes

CROP-Seq uses CRISPRi and scRNA-Seq to screen gene targets in adipocytes, identifying gene knock-down effects and novel regulators of adipogenesis and metabolic disease.

Cell-specific chromatin landscape of human coronary artery resolves regulatory mechanisms of disease risk

The paper uses single-cell ATAC-seq to analyze coronary artery cells from CAD patients, identifying regulatory mechanisms and risk variants associated with disease.

The epigenomic landscape of single vascular cells reflects developmental origin and identifies disease risk loci

The paper identifies vascular site-specific epigenomic and transcriptomic features and links them to disease risk loci using single-cell data and GWAS integration.

Integration of genetic colocalizations with physiological and pharmacological perturbations identifies cardiometabolic disease genes

The paper integrates genetic colocalizations with physiological and pharmacological perturbations to identify causal genes for cardiometabolic diseases.

An integrated approach to identify environmental modulators of genetic risk factors for complex traits

The paper identifies environmental modulators of genetic risk factors for complex traits by integrating perturbation data with GWAS.

Genomic properties of structural variants and short tandem repeats that impact gene expression and complex traits in humans

The paper examines how structural variants and short tandem repeats affect gene expression and complex traits, identifying high-impact variants associated with multiple genes and GWAS traits.

Discovery and Quality Analysis of a Comprehensive Set of Structural Variants and Short Tandem Repeats

The paper discovers and genotypes a comprehensive set of structural variants and short tandem repeats using multiple algorithms and replicates, creating a well-characterized map of these variants.

Quantitative trait loci mapped for TCF21 binding, chromatin accessibility and chromosomal looping in coronary artery smooth muscle cells reveal molecular mechanisms of coronary disease loci

The paper maps QTLs for TCF21 binding, chromatin accessibility, and chromosomal looping in coronary artery smooth muscle cells and links them to CAD GWAS loci.

The environment-sensing aryl-hydrocarbon receptor inhibits the chondrogenic fate of modulated smooth muscle cells in atherosclerotic lesions

The paper investigates the role of AHR in atherosclerosis by showing it suppresses chondrogenic fate of modulated smooth muscle cells in lesions.

LncRNA de novo discovery reveals noncoding RNAs as major molecular mechanism associating coronary artery disease GWAS variants with causal genes to confer disease risk

The paper identifies noncoding RNAs as key mediators linking coronary artery disease GWAS variants to causal genes.

Long non-coding RNA gene regulation and trait associations across human tissues

The paper identifies distinct regulatory patterns and trait associations of lncRNA genes compared to protein-coding genes across human tissues.

Transcriptome-wide association studies: opportunities and challenges

This paper evaluates transcriptome-wide association studies (TWAS) for causal gene prioritization, showing its strengths and limitations in identifying causal genes at GWAS loci.

Genetic regulatory mechanisms of smooth muscle cells map to coronary artery disease risk loci

The paper identifies five genes modulating coronary artery disease risk through smooth muscle cells by integrating eQTL and GWAS data with transcriptomic and epigenomic analyses.

Enhancer connectome in primary human cells reveals target genes of disease-associated DNA elements

This paper uses HiChIP to map enhancer-promoter interactions in primary human cells, linking disease-associated DNA variants to their target genes.