| 2024 | Cyclic Vomiting Syndrome as a New Phenotype of Ataxia-Telangiectasia Syndrome | INDIAN JOURNAL OF PEDIATRICS |
| 2024 | Effect of Flunarizine on Recurrent Status Epilepticus in a Patient with Alternating Hemiplegia of Childhood | INDIAN JOURNAL OF PEDIATRICS |
| 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 |
| 2023 | Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea
| FRONTIERS IN NEUROLOGY |
| 2023 | Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea
| YONSEI MEDICAL JOURNAL |
| 2023 | Persistent Trigeminal Subtype of Internal Carotid Artery Agenesis in CHARGE Syndrome
| JOURNAL OF CLINICAL NEUROLOGY |
| 2023 | IARS2 유전자 연관 리 증후군(Leigh syndrome) 여아에서 방광기능장애 증례
| Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지) |
| 2023 | Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea | WORLD JOURNAL OF PEDIATRICS |
| 2023 | A Patient with Doose Syndrome Who Received Low Glycemic Index Treatment
| Annals of Child Neurology |
| 2022 | A Case of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease with Acute Bilateral Total Blindness
| Annals of Child Neurology |
| 2022 | A Patient with Pyridoxine-Dependent Epilepsy Who Was Treated with Triple Therapy
| Annals of Child Neurology |
| 2022 | A Case of Intellectual Disability without Epilepsy Associated with a Pathogenic Variant of STXBP1
| Annals of Child Neurology |
| 2022 | Mitochondrial tRNA His mutation (m.12158A > G) associated with MELAS syndrome | CLINICAL GENETICS |
| 2022 | Jacobsen syndrome with bilateral periventricular white matter lesions | WORLD JOURNAL OF PEDIATRICS |
| 2022 | High-Dose Prednisolone Therapy for Lennox-Gastaut Syndrome Caused by Fentanyl Intoxication-Induced Toxic Leukoencephalopathy
| Annals of Child Neurology |
| 2022 | Usefulness of Magnetic Resonance Spectroscopy for the Initial Diagnosis of Mitochondrial DNA-Associated Leigh Syndrome
| Annals of Child Neurology |
| 2021 | A female patient with Xp21 gene deletion syndrome
| Journal of Genetic Medicine(대한의학유전학회지) |
| 2021 | DYNC2H1 variants cause Leber congenital amaurosis without syndromic features | CLINICAL GENETICS |
| 2021 | Clinical Value of Magnetic Resonance Spectroscopy in the Initial Evaluation of Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
| Annals of Child Neurology |
| 2021 | Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report
| CHILDREN-BASEL |
| 2021 | Toxic Leukoencephalopathy by Accidental Oral Ingestion of an Infant’s Fentanyl Patch
| Annals of Child Neurology |
| 2021 | Unusual Clinical Presentations in a Patient with Novel ADCK3 Variants
| Annals of Child Neurology |
| 2021 | FLNA Duplication in a Female Infant with Periventricular Nodular Heterotopia
| Annals of Child Neurology |
| 2020 | A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene
| Journal of Genetic Medicine(대한의학유전학회지) |
| 2020 | EPG5 유전자 변이가 확인된 Vici 증후군 1례
| Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지) |
| 2020 | Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4
| CHILDREN-BASEL |
| 2019 | Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates
| YONSEI MEDICAL JOURNAL |
| 2019 | Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea
| YONSEI MEDICAL JOURNAL |
| 2019 | Oral Pyridostigmine-responsive Visceral Myopathy With ACTG2 Mutations: A Case Series | JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION |
| 2018 | Fructose-1,6-bisphosphatase deficiency presented with complex febrile convulsion
| Neuro Endocrinology Letters |
| 2018 | A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia.
| JOURNAL OF CLINICAL NEUROLOGY |
| 2017 | Clinical application of next-generation sequencing for the diagnosis of segmental neurofibromatosis | JOURNAL OF DERMATOLOGICAL SCIENCE |
| 2017 | SPTBN2와 연관된 spinocerebellar ataxia type 5를진단받은 환자
| Journal of the Korean Child Neurology Society |
| 2017 | Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing.
| YONSEI MEDICAL JOURNAL |
| 2016 | Subclinical Hypothyroidism in Childhood Cancer Survivors.
| YONSEI MEDICAL JOURNAL |
| 2015 | 이차적 사경을 증상으로 한 척추 종양
| Journal of the Korean Child Neurology Society |
| 2015 | Leigh 증후군 환자의 임상적 생화학적 진단
| Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) |
| 2014 | Primary central nervous system anaplastic large cell lymphoma presenting initially with meningitis
| NEUROLOGY ASIA |
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