Yael Sarusi

The paper shows that ASOs targeting CHASERR induce fusion transcripts that increase CHD2 expression, alleviating haploinsufficiency in mice.

This paper characterizes behavioral and epileptic phenotypes in a CHD2 mutant mouse model, identifying genetic modifiers and altered ECoG activity associated with developmental delay.

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.