Joseph C. Van Amburg

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 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.

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.