Diana M. Toledo

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression

This study uses long-read sequencing to characterize MUC1 VNTR variation in ADTKD-MUC1, identifying frameshift mutations and their association with disease progression.

From a genomic risk model to clinical trial implementation in a learning health system: the ProGRESS Study

The paper develops a polygenic risk model for prostate cancer using VA data and validates it in external cohorts, showing its clinical utility in risk stratification.

RUNX1 is Expressed in a Subpopulation of Dermal Fibroblasts and Higher RUNX1 Levels are Associated with the Severity of Systemic Sclerosis

This study shows RUNX1 is expressed in SSc fibroblasts and higher levels correlate with fibrosis severity, with hypomethylation and inhibitor effects supporting its role in fibrosis.

Single-cell epigenomic dysregulation of Systemic Sclerosis fibroblasts via CREB1/EGR1 axis in self-assembled human skin equivalents

The paper characterizes single-cell transcriptomic and epigenomic features of a 3D skin-like model of systemic sclerosis, identifying fibroblast subpopulations and their interactions with macrophages.

Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.