| 2026 | Targeted Sequencing of Human Aorta Tissue Reveals Undiagnosed Heritable Thoracic Aortic Disease
| INTERDISCIPLINARY CARDIOVASCULAR AND THORACIC SURGERY |
| 2026 | Comparative Evaluation of Four Multiple Allergen Simultaneous Test (MAST) Systems in Clinical Practice
| JOURNAL OF ASTHMA AND ALLERGY |
| 2026 | Evaluation of diagnostic performance of comprehensive respiratory virus panel: comparison of next-generation-sequencing to real-time polymerase chain reaction for detection of respiratory viruses
| ANNALS OF CLINICAL MICROBIOLOGY AND ANTIMICROBIALS |
| 2026 | Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach
| ANNALS OF LABORATORY MEDICINE |
| 2026 | A predictive framework for stop-loss variants with C-terminal extensions | NUCLEIC ACIDS RESEARCH |
| 2025 | Genetic insights into hypertrophic cardiomyopathy: pathogenesis, diagnosis, and therapeutic implications
| Journal of Cardiovascular Imaging |
| 2025 | Age-Dependent Role of Genetics and Renal Function for Atrial Fibrillation Development in Hypertrophic Cardiomyopathy
| KOREAN CIRCULATION JOURNAL |
| 2025 | Genomic surveillance of SARS-CoV-2 variants using pooled WGS
| SCIENTIFIC REPORTS |
| 2025 | Preoperative Factors Affecting Graft Survival After ABO-incompatible Adult Liver Transplantation | TRANSPLANTATION |
| 2025 | Effects of genetic mutations on left ventricular myocardial mechanics and fibrosis patterns in hypertrophic cardiomyopathy
| SCIENTIFIC REPORTS |
| 2024 | POU6F2, a novel fusion partner of NUP98 in acute myeloid leukaemia: A case report | BRITISH JOURNAL OF HAEMATOLOGY |
| 2024 | Evaluating the TaqMan Jra-Genotyping Method for Rapidly Predicting the Presence of Anti-Jra Antibodies | ANNALS OF LABORATORY MEDICINE |
| 2024 | 건강인 대상의 유전자검사에 대한 이해와 관련 국내 제도 | Laboratory Medicine Online |
| 2024 | Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies | Annals of Laboratory Medicine |
| 2024 | Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines | ANNALS OF LABORATORY MEDICINE |
| 2024 | Poor Mobilization-Associated Factors in Autologous Hematopoietic Stem Cell Harvest | CANCERS |
| 2024 | Development of a multiplex droplet digital PCR method for detection and monitoring of <i>Mycobacterium tuberculosis</i> and drug-resistant tuberculosis | ANNALS OF CLINICAL MICROBIOLOGY AND ANTIMICROBIALS |
| 2024 | Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer | ANNALS OF LABORATORY MEDICINE |
| 2024 | Evaluation of diagnostic performance of SARS-CoV-2 infection using digital droplet polymerase chain reaction in individuals with or without COVID-19 symptoms | CLINICA CHIMICA ACTA |
| 2023 | Cost-Effectiveness Analysis of Three Diagnostic Strategies for the Detection of EGFR Mutation in Advanced Non-Small Cell Lung Cancer | ANNALS OF LABORATORY MEDICINE |
| 2023 | Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea | Diagnostics |
| 2023 | Characteristic Chest Computed Tomography Findings for Birt-Hogg-Dube Syndrome Indicating Requirement for Genetic Evaluation | Diagnostics |
| 2023 | Comparison of Homologous Recombination Repair Gene Next-Generation Sequencing Analysis in Patients With Metastatic Castration-Resistant Prostate Cancer Between Local and Central Laboratories in Korea | Annals of Laboratory Medicine |
| 2023 | Cost-Effectiveness Analysis of Germline and Somatic BRCA Testing in Patients With Advanced Ovarian Cancer | Annals of Laboratory Medicine |
| 2022 | Caspase-10 affects the pathogenesis of primary biliary cholangitis by regulating inflammatory cell death | Journal of Autoimmunity |
| 2022 | Applying Functional Assay Evidence to Interpret Sequence Variants Identified in Hereditary Cancer Genes | Laboratory Medicine Online |
| 2022 | Validation and clinical application of a novel platelet function analyzer (ANYSIS 200) in cardiology patients | CLINICA CHIMICA ACTA |
| 2022 | Development research on the evaluation and management standards for NGS clinical laboratory accreditation | CLINICA CHIMICA ACTA |
| 2022 | Primary endocrine resistance of ER+ breast cancer with ESR1 mutations interrogated by droplet digital PCR | npj Breast Cancer |
| 2022 | Clinical Practice Guidelines for Pre-Analytical Procedures of Plasma Epidermal Growth Factor Receptor Variant Testing | Annals of Laboratory Medicine |
| 2022 | Application of CRISPR/Cas9-based mutant enrichment technique to improve the clinical sensitivity of plasma EGFR testing in patients with non-small cell lung cancer | Cancer Cell International |
| 2022 | Association between TP53 mutation and high 21-gene recurrence score in estrogen receptor-positive/HER2-negative breast cancer | npj Breast Cancer |
| 2022 | Comparison of IL-6 measurement methods with a special emphasis on COVID-19 patients according to equipment and sample type | Journal of Clinical Laboratory Analysis |
| 2021 | Performance Evaluation of the KRYPTOR Compact PLUS Analyzer-Based B.R.A.H.M.S. CgA II KRYPTOR Assay for Chromogranin A Measurement | Diagnostics |
| 2021 | Evaluation of a hybridization capture-based hereditary cancer panel for the ion semiconductor-based next-generation sequencing system | Clinica Chimica Acta |
| 2021 | Lineage switch of B-lymphoblastic leukemia into acute myeloid leukemia with residual lymphoblasts in a patient with previous breast cancer | INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY |
| 2021 | De Novo Cancer Incidence after Kidney Transplantation in South Korea from 2002 to 2017 | Journal of Clinical Medicine |
| 2021 | Performance Evaluation of Aptima HBV and HCV Quant Assays in the Panther System | Laboratory Medicine Online |
| 2021 | 한국인 췌장암 환자에서 발견한 UGT1A1*37 대립유전자 1예 보고 | Laboratory Medicine Online |
| 2021 | Comparison of antinuclear antibody profiles obtained using line immunoassay and fluorescence enzyme immunoassay | Journal of International Medical Research |
| 2021 | A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study | CANCERS |
| 2021 | Hereditary cancer syndrome-associated pathogenic variants are common in patients with hematologic malignancies subsequent to primary solid cancer | Journal of Cancer |
| 2021 | Detection of EGFR-SEPT14 fusion in cell-free DNA of a patient with advanced gastric cancer: A case report | WORLD JOURNAL OF CLINICAL CASES |
| 2021 | Effect of sarcomere and mitochondria-related mutations on myocardial fibrosis in patients with hypertrophic cardiomyopathy | JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE |
| 2021 | Identification of a novel HLA-C*03:04 allele, HLA-C*03:04:84, in a Korean individual | HLA |
| 2021 | Exosome-based detection of EGFR T790M in plasma and pleural fluid of prospectively enrolled non-small cell lung cancer patients after first-line tyrosine kinase inhibitor therapy | CANCER CELL INTERNATIONAL |
| 2021 | Contribution of sarcomere gene mutations to left atrial function in patients with hypertrophic cardiomyopathy | CARDIOVASCULAR ULTRASOUND |
| 2020 | Establishment of Reference Intervals for Serum Insulin-Like Growth Factor I in Korean Adult Population | Endocrinology and Metabolism(대한내분비학회지) |
| 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 |