📢 Out in AJHG:
De novo KDM2A variants cause a syndromic neurodevelopmental disorder. Functional assays and methylation data support this novel gene–disease association.
#RareDisease #NDD #EpiSignature

www.cell.com/ajhg/fulltex...

Could methylation testing help identify fetal alcohol syndrome? bit.ly/46nsQ5Y #FASD #EpiSignature

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci - European Journal of Human Genetics European Journal of Human Genetics - Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

📢Out in @ejhg-journal.bsky.social‬
Bi-allelic inactivating variants in ZNF142 are associated with a specific DNA methylation signature. This robust signature offers a promising epi-diagnostic tool for ZNF142 neurodevelopmental cases.
#NDDs #DNAm #Episignature

www.nature.com/articles/s41...