Stefan Pinter

Associate Professor

Genetics and Genome Sciences

I obtained my PhD in Molecular Biology with Virginia Zakian at Princeton University where I studied helicase function in nuclear and mitochondrial DNA replication and repair. As a postdoc with Jeannie Lee, I used genomic tools to map non-coding (nc)RNAs and developed computational approaches to resolving the two parental alleles in sequencing data. These technologies are relevant to epigenetic processes like X chromosome inactivation (XCI) and imprinting, but also to aneuploidy and human copy-number variation on account of dosage-sensitive genes (i.e. haploinsufficient / triplosensitive). Following my postdoctoral training in mouse XCI, I therefore committed my lab (est. 2016) to building sophisticated human induced pluripotent stem cell (hiPSC) models to investigate mechanisms of human XCI, as well as the developmental etiology of Turner (monosomy-X) and Down (trisomy-21) syndromes.