Heather R. Glatt-Deeley

APALORD is an R-based tool for analyzing differential alternative polyadenylation in long-read RNA-seq data, identifying polyadenylation sites and quantifying their usage across biological conditions.

The paper uses isogenic hiPSC-derived neural crest cells to identify gene expression changes in Turner syndrome, revealing haploinsufficient drivers in cranial neural crest development.

This study uses a dynamic in vitro model to correct Trisomy 21 gene dosage in DS neurogenesis and shows XIST can suppress chr21 genes even after terminal differentiation.

The paper uses isogenic hiPSCs to study monosomy X effects on trophoblast gene expression and finds altered placental gene levels and preserved co-expression modules in placental tissues.

The paper shows that disrupting ZNF274 binding at SNORD116 activates its maternal allele in PWS neurons without altering ZNF274 levels, suggesting a therapeutic strategy for Prader-Willi syndrome.