- Original Article
- Neurology
- Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders
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Keun Soo Lee, Seung Hwan Oh, Ja Young Lee, Go Hun Seo, Da Eun Roh, Ji Kyoung Park, Bo Lyun Lee
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Clin Exp Pediatr. 2026;69(5):417-427. Published online April 22, 2026
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Question: What is the diagnostic utility of whole exome sequencing (WES) and whole genome sequencing (WGS) in unexplained neurodevelopmental disorders (NDDs)?
Finding: WES and WGS achieved a combined diagnostic yield of 39.1% in children with NDDs. Novel variants accounted for over half the pathogenic findings, and trio-based or phenotype-driven testing improved the diagnostic rate.
Meaning: Comprehensive genomic sequencing integrated with clinical phenotyping enhances diagnostic yield among children with NDDs. |
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- Cardiology
- Importance of pulmonary valve morphology for pulmonary valve preservation in tetralogy of Fallot surgery: comparison of the echocardiographic parameters
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Su Jin Choi, Jung Eun Kwon, Da Eun Roh, Myung Chul Hyun, Hanna Jung, Young Ok Lee, Joon Yong Cho, Yeo Hyang Kim
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Clin Exp Pediatr. 2020;63(5):189-194. Published online November 8, 2019
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Question: Is echocardiographic examination is useful for surgical method decision in patients with tetralogy of Fallot (TOF)?
Finding: Various echocardiographic parameters serve as predictors for determining surgical methods for TOF patients. However, the PV morphology and tissue characteristics should also be considered.
Meaning: A full dependence on the size of the pulmonary valve annulus (PVA), the z score, and the ratio of the size of PVA to aortic valve annulus or descending aorta surgery may result in inadequate surgical results during TOF total correction. |
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