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European Journal of Human Genetics : EJHG|June 23, 2026
Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorderYeseul Kim, Joowon Jang, Kyeong Seon Ryu, et al.
Frontiers in Genetics|October 10, 2022
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseasesSoojin Park, Se Song Jang, Seungbok Lee, et al.
Scientific Reports|January 31, 2020
Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred populationYoungha Lee, Soojin Park, Jin Sook Lee, et al.
Human Pathology|December 25, 2004
Renal cell carcinoma in South Korea: a multicenter studyHaeryoung Kim, Nam Hoon Cho, Dong-Sug Kim, et al.
Genome Medicine|August 7, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disordersJihoon G Yoon, Hyunsoo Jang, Seungbok Lee, et al.
Muscle & Nerve|September 6, 2016
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single centerAnna Cho, Moon-Woo Seong, Byung Chan Lim, et al.
Orphanet Journal of Rare Diseases|March 22, 2019
The Korean undiagnosed diseases program: lessons from a one-year pilot projectSoo Yeon Kim, Byung Chan Lim, Jin Sook Lee, et al.
Annals of Neurology|September 1, 2017
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathyYongjin Yoo, Jane Jung, Yoo-Na Lee, et al.
Human Molecular Genetics|January 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrumEunhye Lee, Seungmin Sim, Hee-Jung Choi, et al.
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