Hye‐Yeon Hwang

This study profiles hypoxic glioblastoma stem cells using multi-omics to reveal distinct subpopulations with unique epigenetic and CNV profiles.

The paper develops CRISPR-based strategies to correct a complex genomic rearrangement in EYA1 linked to haploinsufficiency, showing successful gene expression restoration in patient-derived cells.

The paper identifies methylation changes in cell-free fetal DNA linked to maternal obesity and correlates them with infant brain and behavioral outcomes in macaques.

This study examines the association between exposure to DDE and DNA methylation patterns in sperm, finding enriched ASD risk genes and neurodevelopmental pathways.

This study shows that the EGR2 promoter antisense RNA modulates chromatin accessibility and spatial genome organization by interacting with histone modification complexes.

The paper identifies DNA methylation differences in cord blood samples from newborns later diagnosed with ASD, revealing sex-specific epigenomic signatures linked to neurodevelopmental and X-linked genes.

The paper uses low-pass whole genome bisulfite sequencing on neonatal dried blood spots to identify DNA methylation differences in Down syndrome, highlighting RUNX1 hypermethylation and its association with congenital heart disease.

The paper identifies epigenomic signatures in NDD cortex samples, revealing shared regulatory functions and enrichment for genetic risk factors across different NDD types.

The paper identifies 3,152 differentially methylated regions in DS brain tissue using WGBS, revealing hypermethylation in key biological pathways and cross-tissue concordance for hypermethylated regions.