| 2020 | Frequency and Clinical Characteristics of Unselected Korean Gastric Cancer Patients with a Germline CDH1 V832M Mutation
| JOURNAL OF CANCER |
| 2020 | Detection of Anti-Extractable Nuclear Antigens in Patients with Systemic Rheumatic Disease via Fluorescence Enzyme Immunoassay and Its Clinical Utility
| YONSEI MEDICAL JOURNAL |
| 2019 | Diagnostic performance of CA 125, HE4, and risk of Ovarian Malignancy Algorithm for ovarian cancer
| JOURNAL OF CLINICAL LABORATORY ANALYSIS |
| 2019 | Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy
| CARDIOVASCULAR ULTRASOUND |
| 2019 | 진단상의 어려움: 전신성 자가면역 질환의 증상을 모방하는 원발성 골수 광범위큰B세포림프종 진단
| Laboratory Medicine Online |
| 2019 | Selecting short length nucleic acids localized in exosomes improves plasma EGFR mutation detection in NSCLC patients
| Cancer Cell International |
| 2018 | Multiplex Ligation-dependent Probe Amplification 방법을 이용한 정신지체와 수면장애를 가진 Smith-Magenis Syndrome 환자의 진단
| Laboratory Medicine Online |
| 2018 | Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development.
| ANNALS OF LABORATORY MEDICINE |
| 2018 | Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.
| ANNALS OF LABORATORY MEDICINE |
| 2018 | DeviCNV: Detection and Visualization of Exon-Level Copy Number Variants in Targeted Next Generation Sequencing Data
| BMC BIOINFORMATICS |
| 2018 | Performance evaluation of cobas HBV real-time PCR assay on Roche cobas 4800 System in comparison with COBAS AmpliPrep/COBAS TaqMan HBV Test | CLINICAL CHEMISTRY AND LABORATORY MEDICINE |
| 2018 | A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases
| YONSEI MEDICAL JOURNAL |
| 2018 | A Comparative Study for Detection of EGFR Mutations in Plasma Cell-Free DNA in Korean Clinical Diagnostic Laboratories
| BIOMED RESEARCH INTERNATIONAL |
| 2017 | Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2017 | Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia
| ANNALS OF LABORATORY MEDICINE |
| 2017 | Assessment of real-time PCR method for detection of EGFR mutation using both supernatant and cell pellet of malignant pleural effusion samples from non-small-cell lung cancer patients | CLINICAL CHEMISTRY AND LABORATORY MEDICINE |
| 2017 | Profiling cancer-associated genetic alterations and molecular classification of cancer in Korean gastric cancer patients
| ONCOTARGET |
| 2017 | Effects of Triflusal and Clopidogrel on the Secondary Prevention of Stroke Based on Cytochrome P450 2C19 Genotyping
| JOURNAL OF STROKE |
| 2017 | A novel association between relaxin receptor polymorphism and hematopoietic stem cell yield after mobilization
| PLOS ONE |
| 2017 | Identification of cell morphology parameters from automatic hematology analyzers to predict peripheral blood CD34 positive cell count after mobilization
| PLOS ONE |
| 2017 | Validation and Optimization of the Ion Torrent S5 XL Sequencer and Oncomine Workflow for BRCA1 and BRCA2 Genetic Testing
| ONCOTARGET |
| 2017 | Clinical Pharmacogenetic Testing and Application: Laboratory Medicine Clinical Practice Guidelines
| ANNALS OF LABORATORY MEDICINE |
| 2017 | Concomitant AID Expression and BCL7A Loss Associates With Accelerated Phase Progression and Imatinib Resistance in Chronic Myeloid Leukemia
| ANNALS OF LABORATORY MEDICINE |
| 2017 | Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans
| PLOS ONE |
| 2017 | Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects
| YONSEI MEDICAL JOURNAL |
| 2016 | Diagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation
| Neonatal Medicine |
| 2016 | 임상약물유전학 검사와 적용 : 진단검사의학 임상검사 지침-2부
| Laboratory Medicine Online |
| 2016 | 선천성 부신 과형성증(21-hydroxylase 결핍)의 신생아 선별 검사 후 진단 알고리즘
| Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) |
| 2016 | 아이소발레릭산혈증의 신생아선별검사 후 진단 및 치료 전략
| Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) |
| 2016 | 고시트룰린혈증의 신생아 선별검사 후 진단 알고리즘
| Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지) |
| 2016 | Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2016 | Development and comparison of warfarin dosing algorithms for stroke patients
| YONSEI MEDICAL JOURNAL |
| 2016 | PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis
| ANNALS OF LABORATORY MEDICINE |
| 2016 | Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2016 | Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients | JOURNAL OF HUMAN GENETICS |
| 2015 | Analytical Performance of Multiplex Real-Time PCR for Six Sexually Transmitted Pathogens | CLINICAL LABORATORY |
| 2015 | First Korean case of SATB2-associated 2q32-q33 microdeletion syndrome
| ANNALS OF LABORATORY MEDICINE |
| 2015 | Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder
| ANNALS OF LABORATORY MEDICINE |
| 2015 | 디스트로핀 유전자에 새로이 발견된 불연속적 엑손 중복을 보이는 Duchenne형 근디스트로피 환자 5예
| Laboratory Medicine Online |
| 2015 | Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement.
| JOURNAL OF MEDICAL GENETICS |
| 2015 | Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene
| EXPERIMENTAL AND MOLECULAR MEDICINE |
| 2015 | Clinical and Genetic Characterization of Female Dystrophinopathy
| JOURNAL OF CLINICAL NEUROLOGY |
| 2014 | Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies
| Case Reports in Genetics |
| 2014 | Bone marrow hypoplasia, isochromosome 8q and deletion of chromosome 6q preceding B-cell lymphoma
| BLOOD RESEARCH |
| 2014 | Cys482Trp Missense Mutation in the Coagulation Factor XI Gene (F11) in a Korean Patient with Factor XI Deficiency
| ANNALS OF LABORATORY MEDICINE |
| 2014 | A Korean Patient with Lattice Corneal Dystrophy Type IV with Leu527Arg Mutation in the TGFBI Gene
| Korean Journal of Ophthalmology |
| 2014 | Prevalence of Sexually Transmitted Infections in Korean Healthy Women; Implications of Multiplex PCR pathogen detection on antibiotic therapy | JOURNAL OF INFECTION AND CHEMOTHERAPY |
| 2014 | Evaluation of Three Automated Nucleic Acid Extraction Systems for Identification of Respiratory Viruses in Clinical Specimens by Multiplex Real-time PCR
| BIOMED RESEARCH INTERNATIONAL |
| 2014 | Ethnic Differences in Genetic Susceptibility to Gastric Cancer : Allele Flips of Interleukin Gene between Asians and Non-Asians
| WORLD JOURNAL OF GASTROENTEROLOGY |
| 2014 | Differential association of RANTES-403 and IL-1B-1464 polymorphisms on histological subtypes in male Korean patients with gastric cancer | TUMOR BIOLOGY |
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