Deborah C. Mash

The paper identifies brain region-specific enhancers linked to neurological disease risk and shows their role in cellular pathology using enhancer activity data and GWAS integration.

This study identifies epigenetic variation linked to opioid overdose using H3K27ac profiling and machine learning, revealing splicing dysregulation and CELF5 as a key factor.

This study identifies differential chromatin architecture and risk variants in specific brain cell types associated with major depressive disorder.

The paper assesses neuronal and non-neuronal cell turnover in the hippocampus of individuals with alcohol or cocaine abuse compared to healthy controls, finding no significant difference in turnover rates between groups.

The paper analyzes single nucleus transcriptomics data from opioid overdose cases and controls to show widespread glial activation and changes in gene expression related to substance use traits.

The paper develops a multi-omic single-nucleus sequencing method and framework to analyze regulatory genome diversity in human cortical cells and link it to disease risk variants.

The paper identifies case-specific epigenetic alterations in opioid dependence using ChIP-seq and Hi-C, revealing convergent regulatory loci associated with genetic and environmental risk factors.

REBELseq identifies Ta subfamily L1 retrotransposon insertions in neuronal DNA from postmortem brain samples, revealing differences in insertion prevalence across individuals.

The paper identifies molecular differences between rodent and human neuronal and glial cell types using gene expression and epigenetic data from postmortem human brains.

This paper introduces snmC-seq2, an improved single-cell DNA methylome profiling method that enhances read mapping, reduces artifacts, and increases throughput and coverage uniformity.