| FARS2 mutation and epilepsy: possible link with early-onset epileptic encephalopathy JS Cho, SH Kim, HY Kim, T Chung, D Kim, S Jang, SB Lee, SK Yoo, ... Epilepsy Research 129, 118-124, 2017 | 30 | 2017 |
| Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations: Variable Severity in Psychomotor Development and Musculoskeletal Manifestation J Min Ko, JS Cho, Y Yoo, J Seo, M Choi, JH Chae, HR Lee, TJ Cho Journal of child neurology 32 (2), 237-242, 2017 | 25 | 2017 |
| Elevated serum uric acid in benign convulsions with mild gastroenteritis in children IH Yoo, W Kim, J Cho, H Kim, BC Lim, H Hwang, JH Chae, J Choi, KJ Kim Journal of Clinical Neurology (Seoul, Korea) 15 (4), 496-501, 2019 | 16 | 2019 |
| Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing JG Yoon, S Lee, J Cho, N Kim, S Kim, MJ Kim, SY Kim, J Moon, JH Chae European Journal of Human Genetics, 1-4, 2024 | 9 | 2024 |
| Encephalitis with anti-SOX1 antibodies presenting with new-onset refractory status epilepticus IH Yoo, W Kim, J Cho, H Kim, BC Lim, H Hwang, JH Chae, J Choi, KJ Kim, ... Journal of Clinical Neurology 15 (4), 564-565, 2019 | 8 | 2019 |
| Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population Y Lee, S Park, JS Lee, SY Kim, J Cho, Y Yoo, S Lee, T Yoo, M Lee, J Seo, ... Scientific Reports 10 (1), 1413, 2020 | 7 | 2020 |
| Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea J Cho, J Lee, J Kim, H Lee, MJ Kim, YJ Lee, MS Yum, JH Byun, CG Lee, ... Frontiers in Neurology 14, 1294028, 2023 | 5 | 2023 |
| Impact of nusinersen on the health‐related quality of life and caregiver burden of patients with spinal muscular atrophy with symptom onset after age 6 months YJ Lee, AR Kim, JM Lee, YK Shim, JS Cho, HW Ryu, S Kwon, JH Chae Muscle & Nerve 68 (4), 404-413, 2023 | 5 | 2023 |
| Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs WJ Kim, JS Cho, YK Shim, YJ Ko, SA Choi, SY Kim, H Kim, BC Lim, ... Brain and Development 43 (7), 759-767, 2021 | 5 | 2021 |
| Expansion of clinico-genetic spectrum of PRDX3 disease: a literature review with two additional cases J Cho, JG Yoon, S Lee, S Kim, SY Kim, MJ Kim, J Moon, JH Chae Brain Communications 5 (5), fcad233, 2023 | 4 | 2023 |
| Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study S Lee, JG Yoon, J Hong, T Kim, N Kim, J Vandrovcova, WY Yau, J Cho, ... Neurology: Genetics 10 (3), e200147, 2024 | 3 | 2024 |
| Erratum to: Elevated Serum Uric Acid in Benign Convulsions with Mild Gastroenteritis in Children IH Yoo, W Kim, J Cho, H Kim, BC Lim, H Hwang, JH Chae, J Choi, KJ Kim Journal of Clinical Neurology 16 (1), 181-181, 2020 | 3 | 2020 |
| A case of pediatric nephrolithiasis associated with topiramate treatment KT Hong, HW Ryu, K Doo, JS Cho, A Cho, BC Lim, JH Chae, KJ Kim, ... 대한소아신경학회지: 제 18 (1), 2010 | 3 | 2010 |
| Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement B Moon, M Kim, HJ Kim, JS Cho, HJ Son, BC Lim, KJ Kim, JH Chae, ... Clinical and Experimental Pediatrics 66 (3), 142, 2023 | 2 | 2023 |
| Characterizing families of pediatric patients with rare diseases and their diagnostic odysseys: a comprehensive survey analysis from a single tertiary center in Korea J Cho, YS Joo, JG Yoon, SB Lee, SY Kim, JH Chae, YJ Kwon Annals of Child Neurology 32 (3), 167-175, 2024 | 1 | 2024 |
| SYNGAP1‐related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights HJ Kim, M Kim, S Jang, JS Cho, SY Kim, A Cho, H Kim, BC Lim, JH Chae, ... American Journal of Medical Genetics Part A, e63606, 2024 | 1 | 2024 |
| Clinical and Genetic Spectrum of Tubulinopathy: A Single-Center Study HJ Son, M Kim, HJ Kim, JS Cho, SY Kim, BC Lim, KJ Kim, JH Chae, ... Annals of Child Neurology 32 (2), 115-121, 2024 | 1 | 2024 |
| Outcomes of the second withdrawal of anti‐seizure medication in patients with pediatric‐onset epilepsy J Cho, H Kim, JH Chae, KJ Kim, BC Lim Epilepsia 64 (6), e93-e97, 2023 | 1 | 2023 |
| Comprehensive genetic characterization of TFE3-positive renal cell carcinoma. CW Jeong, JS Cho, M Lee, M Choi, C Song, S Lee, JH Ku, C Kwak, ... Journal of Clinical Oncology 36 (6_suppl), 635-635, 2018 | 1 | 2018 |
| Reply to" a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype". Y Yoo, J Cho, M Choi Annals of Neurology 83 (2), 439-439, 2018 | 1 | 2018 |
