Stefan F. Pinter

This study corrects a complex Chromosome 8 rearrangement in vitro, identifies differentially expressed genes, and shows partial rescue of neural differentiation defects.

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 TAD formation on the inactive X occurs before transcription during X-reactivation, independent of transcriptional activity.

The paper analyzes DNA methylation, chromatin accessibility, and gene expression in human pluripotent stem cells to trace X chromosome erosion and its impact on epigenetic features and pluripotency.

The paper investigates the role of megadomains and superloops in X chromosome inactivation, finding they are not required for silencing or gene escape.