Epigenomic signature of major congenital heart defects in newborns with Down syndrome.
Julia S MouatShaobo LiSwe Swe MyintBenjamin I LauferPhilip J LupoJeremy M SchrawJohn P WoodhouseAdam J de SmithJanine M LaSallePublished in: medRxiv : the preprint server for health sciences (2023)
A sex-specific signature of DNA methylation was detected in NDBS of DS-CHD compared to DS non-CHD individuals. This supports the hypothesis that epigenetics can reflect the variability of phenotypes in DS, particularly CHDs.