Jong‐Hee Chae - Concepedia

Author

Jong‐Hee Chae

Seoul National University Children's Hospital ORCID

Also Known As

Bongseog Kim, Byung Chan Lim, Chae, Jong Hee, Chae, Jong-Hee, Craig Campbell, Dohyun Han, Han-Joon Kim, J Chae, J H Chae, J. Chae

395

Publications

7.1K

Citations

H-Index

183

Concepts

All Affiliations

Seoul National University Children's Hospital Seoul National University Seoul National University Hospital Seoul National University Bundang Hospital SNUH SMG-SNU Boramae Medical Center

About

Jong‐Hee Chae is an author at Seoul National University Children's Hospital specializing in medicine, genetics, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	31	70	2.9K
2	Public Health	7	7	348
3	Engineering	4	4	185
4	Health Sciences	2	2	49
5	Natural Sciences	1	1	116

Jong‐Hee Chae

157

Publications

6.2K

Citations

H-Index

Page 1

	Year	Citations
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli, The Lancet Rare DiseasesUrologyClinical TrialsDegenerative DiseaseRehabilitation	2017	446
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Nature Communications	2019	236
Pediatric moyamoya disease: An analysis of 410 consecutive cases Seung‐Ki Kim, Byung‐Kyu Cho, Ji Hoon Phi, Annals of Neurology	2010	212
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms Hyung-Lok Chung, Michael F. Wangler, Paul C. Marcogliese, Neuron Reductive StressGenome InstabilityDifferent MechanismsRedox RegulatorGenetics	2020	153
Defining the phenotypic spectrum of <i>SLC6A1</i> mutations Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Epilepsia	2018	146
A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy Nathalie Goemans, Eugenio Mercuri, Hirofumi Komaki, Neuromuscular Disorders Duchenne Muscular DystrophyMedicineClinical TrialsDegenerative DiseaseAntisense Oligonucleotide	2017	119
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language Lot Snijders Blok, Justine Rousseau, Joanna Twist, Nature Communications Brain DevelopmentGeneticsMolecular BiologyMolecular GeneticsDisease Gene Identification	2018	116
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders Jong‐Hee Chae, Valeria Vasta, Anna Cho, Journal of Medical Genetics	2015	114
Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy Jong‐Hee Chae, Narihiro Minami, Yuko Jin, Neuromuscular Disorders Developmental BiologySkeletal MuscleGenetic DisorderGeneticsDegenerative Disease	2001	110
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes Jin Sook Lee, Taekyeong Yoo, Moses Lee, Clinical Genetics GeneticsGenetic EpidemiologyPathologyMolecular GeneticsNuclear Dna Mutations	2020	90

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