| 2022 | Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome | ACTA NEUROLOGICA SCANDINAVICA |
| 2019 | Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1
| Korean Journal of Pediatrics |
| 2023 | Heteroplasmic Mutant Load Differences in Mitochondrial DNA-Associated Leigh Syndrome | PEDIATRIC NEUROLOGY |
| 2022 | High-Dose Prednisolone Therapy for Lennox-Gastaut Syndrome Caused by Fentanyl Intoxication-Induced Toxic Leukoencephalopathy
| Annals of Child Neurology |
| 2023 | IARS2 유전자 연관 리 증후군(Leigh syndrome) 여아에서 방광기능장애 증례
| Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지) |
| 2022 | Jacobsen syndrome with bilateral periventricular white matter lesions | WORLD JOURNAL OF PEDIATRICS |
| 2023 | Leigh Syndrome with MT-ND5 Mutation and Hypertrophic Cardiomyopathy | INDIAN JOURNAL OF PEDIATRICS |
| 2020 | Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome | EUROPEAN JOURNAL OF ENDOCRINOLOGY |
| 2022 | Mitochondrial tRNA His mutation (m.12158A > G) associated with MELAS syndrome | CLINICAL GENETICS |
| 2023 | Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea
| YONSEI MEDICAL JOURNAL |
| 2023 | Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea | WORLD JOURNAL OF PEDIATRICS |
| 2023 | Nutritional Intervention Through Ketogenic Diet in GLUT1 Deficiency Syndrome
| Clinical Nutrition Research |
| 2018 | Ophthalmoplegia in Mitochondrial Disease
| YONSEI MEDICAL JOURNAL |
| 2023 | Persistent Trigeminal Subtype of Internal Carotid Artery Agenesis in CHARGE Syndrome
| JOURNAL OF CLINICAL NEUROLOGY |
| 2020 | Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy | BRAIN & DEVELOPMENT |
| 2014 | The clinical significance of serum ferritin in pediatric non-alcoholic Fatty liver disease
| PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION |
| 2023 | The Efficacy of Lacosamide in Children with Drug-Resistant Epilepsy: Three Cases in Pediatric Patients
| Annals of Child Neurology |
| 2024 | The first report of a Korean/Vietnamese child with novel pathogenic variants in Asparagine Synthetase Deficiency (ASNSD) with evolving epilepsy syndromes | SEIZURE-EUROPEAN JOURNAL OF EPILEPSY |
| 2024 | Therapeutic outcome of patients with Lennox-Gastaut syndrome with mitochondrial respiratory chain complex I deficiency
| FRONTIERS IN NEUROLOGY |
| 2019 | Transient and Adult Patients with Neurologic Diseases in the Pediatric Emergency Department: Trends and Characteristics
| JOURNAL OF CLINICAL NEUROLOGY |
| 2022 | Treatment strategies for Lennox-Gastaut syndrome: outcomes of multimodal treatment approaches
| THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS |
| 2022 | Unilateral and Reversible Hypoglossal Nerve Palsy Due to Infectious Mononucleosis
| Annals of Child Neurology |
| 2022 | Usefulness of Magnetic Resonance Spectroscopy for the Initial Diagnosis of Mitochondrial DNA-Associated Leigh Syndrome
| Annals of Child Neurology |
| 2019 | Utilization of Coronary Artery to Aorta for the Early Detection of Kawasaki Disease | PEDIATRIC CARDIOLOGY |
| 2023 | 멜라스 증후군 진단에서의 혈장 아미노산과 소변 유기산 분석
| Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지) |
| 2018 | 미토콘드리아 질환에서 웨스트 증후군 환자의 경련 발생 연령에 따른 임상 양상 비교
| Journal of the Korean Child Neurology Society |
