Jong‐Hee Chae
Seoul National University(KR)New Generation University College(ET)Seoul National University Hospital(KR)The Seoul Institute(KR)Seoul National University Children's Hospital(KR)National University College(PR)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Epilepsy research and treatment, Muscle Physiology and Disorders, Mitochondrial Function and Pathology
Most-Cited Works
- → Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial(2017)451 cited
- → AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders(2019)242 cited
- → Pediatric moyamoya disease: An analysis of 410 consecutive cases(2010)213 cited
- → Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms(2020)155 cited
- → Defining the phenotypic spectrum of SLC6A1 mutations(2018)147 cited
- → A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy(2017)126 cited