Clinical and Experimental Pediatrics

Original Article

Neurology

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

Clin Exp Pediatr. 2026;69(5):417-427. Published online April 22, 2026

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.

DOI: https://doi.org/10.3345/cep.2025.02775

Case Report

Nephrology (Genitourinary)

De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea

Kyoung Hee Han, Jong Eun Park, Chang-Seok Ki

Clin Exp Pediatr. 2019;62(5):193-197. Published online November 26, 2018

Crossref 9

Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, α4, and α5). ATS is characterized by persistent microscopic hematuria that starts during infancy, eventually leading to either progressive nephritis or end-stage renal disease. There are 3 known genetic forms of ATS, namely X-linked ATS, autosomal recessive ATS, and...

DOI: https://doi.org/10.3345/kjp.2018.06772

Review Article

Kabuki syndrome: clinical and molecular characteristics

Chong-Kun Cheon, Jung Min Ko

Clin Exp Pediatr. 2015;58(9):317-324. Published online September 21, 2015

Crossref 59

Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct...

DOI: https://doi.org/10.3345/kjp.2015.58.9.317

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