# Jong‐Hee Chae

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/jong-hee-chae/

## Facts

| Field | Value |
| --- | --- |
| Citations | 7,417 |
| Field | Genomics and Rare Diseases |
| h-index | 46 |
| i10-index | 174 |
| Last Known Institution | Seoul National University |
| OpenAlex ID | https://openalex.org/A5061232003 |
| ORCID iD | 0000-0002-9162-0138 |
| Works | 392 |

## Researcher papers

- [Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial](https://scholariq.org/papers/ataluren-in-patients-with-nonsense-mutation-duchenne-muscular-dystrophy-act-dmd/)
- [AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders](https://scholariq.org/papers/ampa-receptor-glua2-subunit-defects-are-a-cause-of-neurodevelopmental-disorders/)
- [Pediatric moyamoya disease: An analysis of 410 consecutive cases](https://scholariq.org/papers/pediatric-moyamoya-disease-an-analysis-of-410-consecutive-cases/)
- [Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms](https://scholariq.org/papers/loss-or-gain-of-function-mutations-in-acox1-cause-axonal-loss-via-different/)
- [Defining the phenotypic spectrum of <i>SLC6A1</i> mutations](https://scholariq.org/papers/defining-the-phenotypic-spectrum-of-i-slc6a1-i-mutations/)
- [A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy](https://scholariq.org/papers/a-randomized-placebo-controlled-phase-3-trial-of-an-antisense-oligonucleotide/)
- [CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language](https://scholariq.org/papers/chd3-helicase-domain-mutations-cause-a-neurodevelopmental-syndrome-with/)
- [Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders](https://scholariq.org/papers/utility-of-next-generation-sequencing-in-genetic-diagnosis-of-early-onset/)
- [Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy](https://scholariq.org/papers/calpain-3-gene-mutations-genetic-and-clinico-pathologic-findings-in-limb-girdle/)
- [Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes](https://scholariq.org/papers/genetic-heterogeneity-in-leigh-syndrome-highlighting-treatable-and-novel-genetic/)
- [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](https://scholariq.org/papers/impact-of-nusinersen-on-the-health-related-quality-of-life-and-caregiver-burden/)

## Researcher topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Epilepsy research and treatment](https://scholariq.org/topics/epilepsy-research-and-treatment/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Muscle Physiology and Disorders](https://scholariq.org/topics/muscle-physiology-and-disorders/)
- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)

## Researcher university

- [Seoul National University](https://scholariq.org/institutions/seoul-national-university/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.