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]

Genetics and Metabolism

Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay

Go Hun Seo, Ja Hye Kim, Ja Hyang Cho, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo

Clin Exp Pediatr. 2016;59(1):16-23. Published online January 22, 2016

Crossref 11

Purpose

The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the...

DOI: https://doi.org/10.3345/kjp.2016.59.1.16

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

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Clinical and Experimental Pediatrics is an open access journal. All articles are distributed under the terms of the Creative Commons Attribution NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/)