Clinical and Experimental Pediatrics

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Original Article

Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders

Keun Soo Lee, Seung Hwan Oh, Ja Young Lee, Go Hun Seo, Da Eun Roh, Ji Kyoung Park, Bo Lyun Lee

Background: Neurodevelopmental disorders (NDDs) are frequently encountered in pediatric neurology clinics. However, their extensive genetic heterogeneity often limits the diagnostic yield of standard diagnostic tests, highlighting the need for comprehensive genomic approaches.
Purpose: This study aimed to evaluate the diagnostic utility of whole exome sequencing (WES) and whole genome sequencing (WGS) in children with unexplained NDDs and assess the clinical relevance...

DOI: https://doi.org/10.3345/cep.2025.02775 [Epub ahead of print]

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