Copy number variants (CNV) interfere with human Accelerated Regions (HARs) to cause neurodevelopmental disorders: a large-scale cohort study
Maria E. Iuditskaia, Ekaterina V. Semina, Elizaveta D. Pankratova, О С Куринная, Elizaveta V. Guldan, Elvin H. Abasov, Ivan Yu. Iourov, Yu. A. Chaika
This study investigates the role of copy number variants (CNVs) disrupting Human Accelerated Regions (HARs) in neurodevelopmental disorders (NDDs) using a large cohort of 821 children, identifying three recurrent HAR loci associated with NDDs.
Scientific Reports · Oct 23, 2026Peer-reviewedGenomics