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Frontiers in Neurology|March 17, 2025
Data transformation of unstructured electroencephalography reports by natural language processing: improving data usability for large-scale epilepsy studiesYoon Gi Chung, Jaeso Cho, Young Ho Kim, et al.European Journal of Human Genetics : EJHG|February 2, 2024
Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencingJihoon G Yoon, Seungbok Lee, Jaeso Cho, et al.Journal of Clinical Neurology (Seoul, Korea)|January 17, 2020
Erratum to: Elevated Serum Uric Acid in Benign Convulsions with Mild Gastroenteritis in ChildrenIl Han Yoo, Woojoong Kim, Jaeso Cho, et al.BMC Medical Genomics|March 3, 2025
Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencingJihoon G Yoon, Seungbok Lee, Soojin Park, et al.Journal of Child Neurology|June 11, 2025
Trio-Based Whole-Genome Sequencing for Critically Ill Pediatric Patients in KoreaSeungbok Lee, June-Young Koh, Joonoh Lim, et al.Seizure|February 27, 2026
Toward practical standardization: Development of clinical common data elements for pediatric epilepsy in Korea and exploration of their clinical utilityJaeso Cho, Hee Jeong Yun, Hyun Woo Kim, et al.American Journal of Human Genetics|July 24, 2024
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorderJihoon G Yoon, Seong-Kyun Lim, Hoseok Seo, et al.NPJ Genomic Medicine|November 28, 2024
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseasesJong Hyeon Ahn, Jihoon G Yoon, Jaeso Cho, et al.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.Experimental & Molecular Medicine|July 31, 2024
Comprehensive molecular characterization of TFE3-rearranged renal cell carcinomaCho-Rong Lee, Jungyo Suh, Dongjun Jang, et al.Pageof 3