Ethan W. Hollingsworth

The paper designs tissue-specific enhancers for mouse embryos using deep learning models trained on chromatin accessibility data and validated enhancers.

The paper identifies a conserved cis-acting element, REX, that enables extreme long-range enhancer-promoter interactions in mammals by increasing the genomic interaction range of enhancers.

The paper shows that poised enhancers are susceptible to non-coding variants causing gene activation and disease, using the ZRS and autism-associated variants as examples.

This paper introduces dual-enSERT, a tool for rapidly measuring enhancer variant activity in live mice, and shows it can identify shared genetic mechanisms in non-coding variant pathogenesis.

The paper characterizes GSC-derived GBM organoids, revealing an immune-like molecular program and identifying SATB2+ and HOPX+ progenitor populations that contribute to GBM progression.

This study shows that VPA exposure alters chromatin environment, leading to changes in alternative splicing and gene expression in human cortical neurons, which may contribute to ASD pathogenesis.