| 2021 | Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita
| ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM |
| 2021 | Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond
| CLINICAL GENETICS |
| 2021 | Effects of Salbutamol in Collagen like Tail Subunit of Asymmetric Acetylcholinesterase-Related Congenital Myasthenic Syndrome: A First Korean Case
| Annals of Child Neurology |
| 2021 | Potential role of stress-induced gluconeogenesis in disease aggravation and mortality in pyruvate dehydrogenase deficiency: A case-based hypothesis | MEDICAL HYPOTHESES |
| 2020 | FAH gene novel mutation을 가진 만성형 Hereditary tyrosinemia 1형
| Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지) |
| 2020 | Generation of induced pluripotent stem cells (KSCBi009-A) from a patient with Prader-Willi syndrome (PWS) featuring deletion of the paternal chromosome region 15q11.2-q13
| STEM CELL RESEARCH |
| 2019 | Generation of patient-specific induced pluripotent stem cells (KSCBi007-A) derived from a patient with Prader-Willi syndrome retain maternal uniparental disomy (UPD)
| STEM CELL RESEARCH |
| 2019 | Systematic Approach for Drug Repositioning of Anti-Epileptic Drugs
| DIAGNOSTICS |
| 2019 | A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1
| Journal of Korean Society of Pediatric Endocrinology (대한소아내분비학회지) |
| 2019 | Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates
| YONSEI MEDICAL JOURNAL |
| 2019 | The First Case Series of Cryopyrin-Associated Periodic Syndrome in Korea
| Allergy Asthma & Immunology Research |
| 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 | Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?
| PEDIATRIC GASTROENTEROLOGY HEPATOLOGY & NUTRITION |
| 2017 | Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation
| SCIENTIFIC REPORTS |
| 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 | Diagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation
| Neonatal Medicine |
| 2016 | Identification of disease comorbidity through hidden molecular mechanisms
| SCIENTIFIC REPORTS |
| 2016 | Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS. | ANALYTICAL AND BIOANALYTICAL CHEMISTRY |
| 2016 | Mucocutaneous Telangiectasia as a Diagnostic Clue of Hereditary Hemorrhagic Telangiectasia: An Activin Receptor-Like Kinase-1 Mutation in a Korean Patient
| ANNALS OF DERMATOLOGY |
| 2016 | Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease | JOURNAL OF HUMAN GENETICS |
| 2015 | 천식 치료 중 우연히 발견된 Birt-Hogg-Dube 증후군 1예
| ALLERGY ASTHMA & RESPIRATORY DISEASE |
| 2015 | Complete form of pachydermoperiostosis with SLCO2A1 gene mutation in a Korean family | JOURNAL OF DERMATOLOGY |
| 2015 | Lipidomic profiling of plasma and urine from patients with Gaucher disease during enzyme replacement therapy by nanoflow liquid chromatography-tandem mass spectrometry | JOURNAL OF CHROMATOGRAPHY A |
| 2014 | Novel mutations of KIT gene in two Korean patients: Variegated shades of phenotypes in tyrosine kinase 1 domain | JOURNAL OF DERMATOLOGICAL SCIENCE |
| 2014 | Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) disease | JOURNAL OF HUMAN GENETICS |
| 2014 | A modified Atkin's diet for an infant with pyruvate dehydrogenase complex deficiency confirmed by PDHA1 gene mutation | NEUROLOGY ASIA |
| 2012 | Genetic and epileptic features in Rett syndrome
| YONSEI MEDICAL JOURNAL |
| 2012 | The first case of familial Mediterranean fever associated with renal amyloidosis in Korea
| YONSEI MEDICAL JOURNAL |
| 2011 | Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency
| Korean Journal of Pediatrics |
| 2011 | X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation
| YONSEI MEDICAL JOURNAL |
| 2010 | Survival analysis of spinal muscular atrophy type I.
| Korean Journal of Pediatrics |
| 2010 | 신생아기에 진단된 미토콘드리아 질환 3례
| Journal of the Korean Society of Neonatology |
| 2010 | Behavioral improvement after transplantation of neural precursors derived from embryonic stem cells into the globally ischemic brain of adolescent rats | BRAIN & DEVELOPMENT |
| 2009 | Clinical Characteristics of Renal Cell Carcinoma in Korean Patients with von Hippel-Lindau Disease Compared to Sporadic Bilateral or Multifocal Renal Cell Carcinoma
| JOURNAL OF KOREAN MEDICAL SCIENCE |
| 2009 | MedRefSNP: a database of medically investigated SNPs | HUMAN MUTATION |
| 2009 | De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence
| Korean Journal of Pediatrics |
| 2008 | Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis. | METABOLIC BRAIN DISEASE |
| 2008 | 한국인 von Hippel-Lindau 병 환자에서 신세포암의 임상적 특성
| KOREAN JOURNAL OF UROLOGY |
| 2008 | Temporal bone CT findings in Cornelia de Lange syndrome.
| AMERICAN JOURNAL OF NEURORADIOLOGY |
| 2007 | PADB : Published Association Database
| BMC BIOINFORMATICS |
| 2006 | Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria
| EXPERIMENTAL AND MOLECULAR MEDICINE |
| 2004 | Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 59insC/Q425P mutations in integrin β4 gene (ITGB4) | EXPERIMENTAL DERMATOLOGY |
| 2004 | 중증근무력증 환자의 CTLA-4 유전자 다형성
| Journal of the Korean Neurological Association |
| 2004 | 신생아 지속성 폐동맥 고혈압증을 동반한 태아 알코올 증후군 1례
| Korean Journal of Pediatrics |
| 2003 | 신생아기에 진단된 미토콘드리아 호흡 사슬 결함 1례
| Korean Journal of Perinatology (대한주산의학회잡지) |
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