2007 | 12세 남아에서 발견된 기관지 점액표피양 암종 1례 | Pediatric Allergy and Respiratory Disease (소아알레르기 호흡기학회지) |
2004 | 9세 남아에서 우연히 발견된 기관지원성 낭종 1례
| Pediatric Allergy and Respiratory Disease (소아알레르기 호흡기학회지) |
2006 | A Case of Cogential Fiber Type Disproportion With Multiple Anomalies
| Journal of the Korean Child Neurology Society |
2010 | A case of Ohtahara syndrome with mitochondrial respiratory chain complex I deficiency | BRAIN & DEVELOPMENT |
2007 | Basement membrane thickening and clinical features of children with asthma | ALLERGY |
2018 | BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors | NATURE MEDICINE |
2015 | Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy | NATURE MEDICINE |
2018 | Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination | NEURON |
2019 | Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy | JOURNAL OF CLINICAL INVESTIGATION |
2018 | Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation | NEUROLOGY-GENETICS |
2023 | Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
| NATURE GENETICS |
2023 | Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders | JOURNAL OF MOLECULAR DIAGNOSTICS |
2016 | Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) | PEDIATRIC NEPHROLOGY |
2019 | Epilepsy Surgery for Children With Low-Grade Epilepsy-Associated Tumors: Factors Associated With Seizure Recurrence and Cognitive Function | PEDIATRIC NEUROLOGY |
2020 | Epilepsy surgery for pediatric patients with mild malformation of cortical development | SEIZURE-EUROPEAN JOURNAL OF EPILEPSY |
2022 | Epilepsy with SLC35A2 Brain Somatic Mutations in Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE)
| Annals of Child Neurology |
2021 | Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
| ACTA NEUROPATHOLOGICA COMMUNICATIONS |
2017 | Fukuyama 선천성 근이영양증에서의 분자유전학적 분석
| Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) |
2015 | Leigh 증후군 환자의 임상적 생화학적 진단
| Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) |
2017 | Long-term epilepsy-associated tumor in the amygdala of a 16-year-old boy: report of a rare case having intranuclear filaments | BRAIN TUMOR PATHOLOGY |
2024 | Long-term Outcomes of Protocol-Based Treatment for Newly Diagnosed Medulloblastoma
| CANCER RESEARCH AND TREATMENT |
2008 | Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions | EPILEPSIA |
2017 | Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers
| FRONTIERS IN NEUROLOGY |
2015 | Neonatal mitochondrial respiratory chain defect and vaginal embryonal rhabdomyosarcoma : possibility of oncogenesis?
| Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) |
2011 | Neuroimaging in identifying focal cortical dysplasia and prognostic factors in pediatric and adolescent epilepsy surgery. | EPILEPSIA |
2012 | New Classification of Focal Cortical Dysplasia: Application to Practical Diagnosis
| Journal of Epilepsy Research |
2009 | Outcome of surgical treatment in non-lesional intractable childhood epilepsy | SEIZURE-EUROPEAN JOURNAL OF EPILEPSY |
2015 | Patterns of Failure Following Multimodal Treatment for Medulloblastoma: Long-Term Follow-up Results at a Single Institution
| CANCER RESEARCH AND TREATMENT |
2019 | Precise detection of low-level somatic mutation in resected epilepsy brain tissue | ACTA NEUROPATHOLOGICA |
2004 | Proteomic analysis distinguishes basaloid carcinoma as a distinct subtype of nonsmall cell lung carcinoma | PROTEOMICS |
2013 | Relapsed herpes simplex virus encephalitis after epilepsy surgery
| Journal of Epilepsy Research |
2017 | Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia | AMERICAN JOURNAL OF HUMAN GENETICS |
2016 | Surgical treatment of pediatric focal cortical dysplasia: Clinical spectrum and surgical outcome | NEUROLOGY |
2019 | The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
| YONSEI MEDICAL JOURNAL |
2016 | Transforming growth factor-beta 1 in humidifier disinfectant-associated children's interstitial lung disease | PEDIATRIC PULMONOLOGY |
2016 | Treatment Outcome and Prognostic Molecular Markers of Supratentorial Primitive Neuroectodermal Tumors.
| PLOS ONE |
2017 | Ultrastructural Changes in Skeletal Muscle of Infants with Mitochondrial Respiratory Chain Complex I Defects
| JOURNAL OF CLINICAL NEUROLOGY |
2011 | X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation
| YONSEI MEDICAL JOURNAL |
2007 | 대뇌피질 이형성증과 미세발생이상; 난치성 소아 간질로 뇌엽절제술을 받은 환자에서의 임상소견, 뇌파 및 영상학적 비교 | Journal of the Korean Child Neurology Society |
2018 | 미토콘드리아 DNA 돌연변이에 따른 Leigh 증후군의 임상 양상 분석
| Journal of the Korean Child Neurology Society |
1998 | 선천성 결핵 1례 | Journal of the Korean Society of Neonatology |
2010 | 신생아기에 진단된 미토콘드리아 질환 3례
| Journal of the Korean Society of Neonatology |
2006 | 측두엽 간질의 삼중 병리에 대한 절제술의 경험 | Korean Journal of Pediatric Neurosurgery (대한소아신경외과학회지) |
2005 | 흉막 삼출을 동반한 흉선 성숙 기형종 1례
| Pediatric Allergy and Respiratory Disease (소아알레르기 호흡기학회지) |