| Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial CM McDonald, C Campbell, RE Torricelli, RS Finkel, KM Flanigan, ... The Lancet 390 (10101), 1489-1498, 2017 | 445 | 2017 |
| Pediatric moyamoya disease: an analysis of 410 consecutive cases SK Kim, BK Cho, JH Phi, JY Lee, JH Chae, KJ Kim, YS Hwang, IO Kim, ... Annals of neurology 68 (1), 92-101, 2010 | 246 | 2010 |
| Effect of roxithromycin on airway responsiveness in children with bronchiectasis: a double-blind, placebo-controlled study YY Koh, MH Lee, YH Sun, KW Sung, JH Chae European Respiratory Journal 10 (5), 994-999, 1997 | 204 | 1997 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 186 | 2019 |
| Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy J Chae, N Minami, Y Jin, M Nakagawa, K Murayama, F Igarashi, I Nonaka Neuromuscular Disorders 11 (6-7), 547-555, 2001 | 128 | 2001 |
| A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy N Goemans, E Mercuri, E Belousova, H Komaki, A Dubrovsky, ... Neuromuscular Disorders 28 (1), 4-15, 2018 | 124 | 2018 |
| Defining the phenotypic spectrum of SLC6A1 mutations KM Johannesen, E Gardella, T Linnankivi, C Courage, A de Saint Martin, ... Epilepsia 59 (2), 389-402, 2018 | 120 | 2018 |
| Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders JH Chae, V Vasta, A Cho, BC Lim, Q Zhang, SH Eun, SH Hahn Journal of medical genetics 52 (3), 208-216, 2015 | 117 | 2015 |
| Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform BC Lim, S Lee, JY Shin, JI Kim, H Hwang, KJ Kim, YS Hwang, JS Seo, ... Journal of medical genetics 48 (11), 731-736, 2011 | 109 | 2011 |
| Epilepsy surgery in children: outcomes and complications SK Kim, KC Wang, YS Hwang, KJ Kim, JH Chae, IO Kim, BK Cho Journal of Neurosurgery: Pediatrics 1 (4), 277-283, 2008 | 106 | 2008 |
| CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ... Nature communications 9 (1), 4619, 2018 | 96 | 2018 |
| Hemifacial seizure of cerebellar ganglioglioma origin: seizure control by tumor resection JH Chae, SK Kim, KC Wang, KJ Kim, YS Hwang, BK Cho Epilepsia 42 (9), 1204-1207, 2001 | 92 | 2001 |
| Loss-or gain-of-function mutations in ACOX1 cause axonal loss via different mechanisms H Chung, MF Wangler, PC Marcogliese, J Jo, TA Ravenscroft, Z Zuo, ... Neuron 106 (4), 589-606. e6, 2020 | 83 | 2020 |
| Tofacitinib relieves symptoms of stimulator of interferon genes (STING)–associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173 J Seo, JA Kang, DI Suh, EB Park, CR Lee, SA Choi, SY Kim, Y Kim, ... Journal of Allergy and Clinical Immunology 139 (4), 1396-1399. e12, 2017 | 83 | 2017 |
| Brain abnormalities in neuromyelitis optica JE Kim, SM Kim, SW Ahn, BC Lim, JH Chae, YH Hong, KS Park, JJ Sung, ... Journal of the neurological sciences 302 (1-2), 43-48, 2011 | 81 | 2011 |
| Childhood ocular myasthenia gravis JH Kim, JM Hwang, YS Hwang, KJ Kim, J Chae Ophthalmology 110 (7), 1458-1462, 2003 | 81 | 2003 |
| Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia B Royer-Bertrand, S Castillo-Taucher, R Moreno-Salinas, TJ Cho, ... Scientific reports 5 (1), 17154, 2015 | 78 | 2015 |
| Decreased level and defective function of circulating endothelial progenitor cells in children with moyamoya disease JH Kim, JH Jung, JH Phi, HS Kang, JE Kim, JH Chae, SJ Kim, YH Kim, ... Journal of neuroscience research 88 (3), 510-518, 2010 | 78 | 2010 |
| GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy Y Yoo, J Jung, YN Lee, Y Lee, H Cho, E Na, JY Hong, E Kim, JS Lee, ... Annals of neurology 82 (3), 466-478, 2017 | 77 | 2017 |
| Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome E Dikoglu, A Alfaiz, M Gorna, D Bertola, JH Chae, TJ Cho, M Derbent, ... American journal of medical genetics Part A 167 (7), 1501-1509, 2015 | 76 | 2015 |
