Jonathan Brett Heimlich

This study links clonal hematopoiesis to accelerated frailty and functional decline across multiple organ systems in humans.

The paper identifies mutation-specific impairments in TET2 and DNMT3A enzymatic activity as predictors of clonal hematopoiesis disease risk using methylation-based activity scores.

The paper shows genome or exome sequencing underestimates CHIP-disease associations due to low sensitivity and positive predictive value, requiring deep sequencing for accurate results.

This study finds that clonal hematopoiesis (CHIP) increases stroke risk across multiple cohorts, with specific gene mutations and inflammatory markers like IL-1RAP modifying this risk.

The paper introduces a closed-loop framework for single-cell foundation models that incorporates perturbation data to improve prediction accuracy, identifying therapeutic targets and pathways in RUNX1-familial platelet disorder.

The paper analyzes sequencing data from three cohorts to quantify cytopenia incidence and identify risk factors in clonal hematopoiesis, finding higher cytopenia rates and progression to myeloid neoplasms.

The paper introduces a cost-effective CHIP assay, identifies 101 CHIP cases in a cohort, and finds heterogeneity in clonal expansion rates by driver gene and individual.

This study profiles single-cell multiomic data from clonal hematopoiesis patients and controls, revealing pro-inflammatory profiles in monocytes and T cell dysfunction.

The paper identifies monocyte-endothelial interaction alterations in TET2 CHIP and shows that targeting CXCR2 and ICAM1 can restore normal interactions.

The paper identifies IL1RAP and AIM2 as key modifiers of CHIP-associated cardiovascular risk using UK Biobank data and CRISPR experiments in mice.

This study analyzes clonal hematopoiesis in over a million diverse individuals, identifying 72 genome-wide significant loci and linking CHIP to various phenotypes.