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2020 Burden of premature ventricular contractions beyond nonsustained ventricular tachycardia is related to the myocardial extracellular space expansion in patients with hypertrophic-cardiomyopathy CLINICAL CARDIOLOGY

2020 Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy CLINICA CHIMICA ACTA

2020 Performance comparison of platelet function analyzers in cardiology patients: VerifyNow and Anysis-200 aspirin assays CLINICAL HEMORHEOLOGY AND MICROCIRCULATION

2020 A novel approach for tuberculosis diagnosis using exosomal DNA and droplet digital PCR CLINICAL MICROBIOLOGY AND INFECTION

2020 Differential Contributions of Sarcomere and Mitochondria-Related Multigene Variants to the Endophenotype of Hypertrophic Cardiomyopathy MITOCHONDRION

2020 Genetic Spectrum of UGT1A1 in Korean Patients With Unconjugated Hyperbilirubinemia ANNALS OF LABORATORY MEDICINE

2020 An optimized BRCA1/2 next-generation sequencing for different clinical sample types JOURNAL OF GYNECOLOGIC ONCOLOGY

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 Diagnosis of Smith-Magenis Syndrome in a Patient with Mental Retardation and Sleep Disturbance Confirmed by Multiplex Ligation-dependent Probe Amplification 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 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