Genetic & Genomic MedicinemedRxivPreprint
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron…·Anne O’Donnell‐Luria
The paper identifies a novel neurodevelopmental disorder caused by de novo deletion of the lncRNA CHASERR, showing its role in regulating CHD2 expression and causing developmental and epileptic encephalopathy.
6 citations