Julia M. Jianu

This study overexpresses DNMT3L in SH-SY5Y neurons and shows it recreates aspects of the DS DNA methylation signature through hypermethylation and hypomethylation of specific genomic regions.

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 two placental DNA methylation markers, CYP2E1 and IRS2, associated with ASD risk and modulated by genetic and environmental factors.