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Neurology. Genetics|May 23, 2024
Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide StudySeungbok Lee, Jihoon G Yoon, Juhyeon Hong, et al.
Journal of Medical Genetics|November 3, 2012
Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian populationHansoo Park, Seungbok Lee, Hyun-Jin Kim, et al.
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.
Cell Reports. Medicine|July 1, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approachSang-Yeon Lee, Seungbok Lee, Seongyeol Park, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|August 9, 2025
Biallelic BRF2 mutations disrupt redox homeostasis as etiological factors in syndromic immunodeficiency and developmental disordersSeobin Yoon, Seungbok Lee, Haeyoon Kwon, et al.
Nature Genetics|May 29, 2025
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genesAdam Jackson, Nishi Thaker, Alexander Blakes, et al.
Clinical Genetics|February 24, 2026
Exploring the Impact of RNU4-2 Defects on Neurodevelopmental Disorders in a Korean PopulationJuhyeon Hong, Seungbok Lee, Soo Yeon Kim, 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.
Brain : a Journal of Neurology|May 5, 2026
Genotype-structure-phenotype correlations define divergent natural history in early-onset spastic paraplegia type 4Julian E Alecu, Luca M Schierbaum, Amy Tam, et al.
Diabetes|June 27, 2018
Nonsynonymous Variants in PAX4 and GLP1R Are Associated With Type 2 Diabetes in an East Asian PopulationSoo Heon Kwak, Jeesoo Chae, Seungbok Lee, et al.
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