
05/07/2025
Check out the latest article by CNI director, Udai Pandey and other CNI colleagues titled "De novo variants in KDM2A cause a syndromic neurodevelopmental disorder".
Germline variants that disrupt components of the epigenetic machinery cause syndromic neurodevelopmental disorders. Using exome and genome sequencing, we identified de novo variants in KDM2A , a lysine demethylase crucial for embryonic development, in 18 individuals with developmental delays and/or....