| 2023 | A Case of Chronic Myeloid Leukemia with Micro BCR::ABL2 Rearrangement: Precaution in Reverse Transcription PCR to Prevent False Negativity
| Laboratory Medicine Online |
| 2023 | A Case of STIL-TAL1-positive T-lymphoblastic Leukemia With a Minor Philadelphia-positive Clone
| ANNALS OF LABORATORY MEDICINE |
| 2022 | A comparative study of next-generation sequencing and fragment analysis for the detection and allelic ratio determination of FLT3 internal tandem duplication
| DIAGNOSTIC PATHOLOGY |
| 2020 | A novel approach for tuberculosis diagnosis using exosomal DNA and droplet digital PCR | CLINICAL MICROBIOLOGY AND INFECTION |
| 2017 | A novel association between relaxin receptor polymorphism and hematopoietic stem cell yield after mobilization
| PLOS ONE |
| 2020 | Altered Gut Microbiota and Shift in Bacteroidetes between Young Obese and Normal-Weight Korean Children: A Cross-Sectional Observational Study
| BIOMED RESEARCH INTERNATIONAL |
| 2016 | An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis
| ANNALS OF LABORATORY MEDICINE |
| 2013 | Analysis of mutations in the XPD gene in a patient with brittle hair | ANNALS OF CLINICAL AND LABORATORY SCIENCE |
| 2022 | Analysis of trio test in neurodevelopmental disorders
| FRONTIERS IN PEDIATRICS |
| 2022 | Analytical and Clinical Validation of Cell-Free Circulating Tumor DNA Assay for the Estimation of Tumor Mutational Burden | CLINICAL CHEMISTRY |
| 2020 | Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy | CLINICA CHIMICA ACTA |
| 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 | Application of Multigene Panel Testing in Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused on Genotype-Phenotype Correlation | DISEASES OF THE COLON & RECTUM |
| 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 |
| 2024 | Association Between Aortic Valve Sclerosis and Clonal Hematopoiesis of Indeterminate Potential
| ANNALS OF LABORATORY MEDICINE |
| 2022 | ATP1A2 유전자 변이를 보인 산발반신마비 편두통
| Journal of the Korean Neurological Association(대한신경과학회지) |
| 2023 | BCR::ABL1 정량 검사의 국내 현황 조사(2022)
| Laboratory Medicine Online |
| 2022 | Caspase-10 affects the pathogenesis of primary biliary cholangitis by regulating inflammatory cell death
| JOURNAL OF AUTOIMMUNITY |
| 2023 | CBFA2T3::GLIS2 유전자재배열을 동반한 소아 급성거핵모구백혈병의 국내 첫 증례 보고
| Laboratory Medicine Online |
| 2021 | Chimerism Assay Using Single Nucleotide Polymorphisms Adjacent and in Linkage-Disequilibrium Enables Sensitive Disease Relapse Monitoring after Hematopoietic Stem-Cell Transplantation | CLINICAL CHEMISTRY |
| 2016 | Chronic Myeloid Leukemia With Rare Variant b2a3 (e13a3) BCR-ABL1 Fusion
| ANNALS OF LABORATORY MEDICINE |
| 2023 | Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression
| CANCERS |
| 2024 | Circulating Tumor DNA Reflects Histologic and Clinical Characteristics of Various Lymphoma Subtypes
| CANCER RESEARCH AND TREATMENT |
| 2024 | Clinical Practice Guideline for Blood-based Circulating Tumor DNA Assays
| ANNALS OF LABORATORY MEDICINE |
| 2022 | Clinical Practice Guidelines for Pre-Analytical Procedures of Plasma Epidermal Growth Factor Receptor Variant Testing
| ANNALS OF LABORATORY MEDICINE |
| 2023 | Clinical relevance of clonal hematopoiesis and its interference in cell-free DNA profiling of patients with gastric cancer | CLINICAL CHEMISTRY AND 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 |
| 2022 | Concomitant Diagnosis of Primary Bone Marrow B-Cell Non-Hodgkin Lymphoma and Essential Thrombocythemia: A Case Report
| ANNALS OF LABORATORY MEDICINE |
| 2020 | Copy Number Variations and Multiallelic Variants in Korean Patients With Leber Congenital Amaurosis
| MOLECULAR VISION |
| 2023 | Copy-number analysis by base-level normalization: An intuitive visualization tool for evaluating copy number variations | CLINICAL GENETICS |
| 2022 | Cytogenetic testing by fluorescence in situ hybridization is improved by plasma cell sorting in multiple myeloma
| SCIENTIFIC REPORTS |
| 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 |
| 2023 | Development and validation of sensitive BCR::ABL1 fusion gene quantitation using next-generation sequencing
| CANCER CELL INTERNATIONAL |
| 2023 | Development of a Next-generation Sequencing-based Gene Panel Test to Detect Measurable Residual Disease in Acute Myeloid Leukemi
| ANNALS OF LABORATORY MEDICINE |
| 2017 | Diagnostic application of clinical exome sequencing in Leber congenital amaurosis
| MOLECULAR VISION |
| 2023 | Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia
| BMC MEDICAL GENOMICS |
| 2015 | Establishing quality control ranges for antimicrobial susceptibility testing of Escherichia coli, Pseudomonas aeruginosa, and Staphylococcus aureus: a cornerstone to develop reference strains for Korean clinical microbiology laboratories
| ANNALS OF LABORATORY MEDICINE |
| 2021 | Evaluation of a hybridization capture-based hereditary cancer panel for the ion semiconductor-based next-generation sequencing system | CLINICA CHIMICA ACTA |
| 2016 | Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants | BREAST CANCER RESEARCH AND TREATMENT |
| 2021 | Evaluation of Combined Cancer Markers With Lactate Dehydrogenase and Application of Machine Learning Algorithms for Differentiating Benign Disease From Malignant Ovarian Cancer | CANCER CONTROL |
| 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 |
| 2023 | Exploring the Characteristics of Circulating Tumor DNA in Pt1a Clear Cell Renal Cell Carcinoma: A Pilot Study
| CANCERS |
| 2015 | First Korean case of SATB2-associated 2q32-q33 microdeletion syndrome
| ANNALS OF LABORATORY MEDICINE |
| 2023 | FLT3-ITD 검사의 국내 현황 조사(2021)
| Laboratory Medicine Online |
| 2020 | Frequency and Clinical Characteristics of Unselected Korean Gastric Cancer Patients with a Germline CDH1 V832M Mutation
| JOURNAL OF CANCER |
| 2020 | Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
| Endocrinology and Metabolism (대한내분비학회지) |
| 2023 | Genetic diagnosis of inborn errors of immunity using clinical exome sequencing
| FRONTIERS IN IMMUNOLOGY |
| 2022 | Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy
| FRONTIERS IN NEUROLOGY |
| 2020 | Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A)
| JOURNAL OF CLINICAL NEUROLOGY |
| 2017 | Identification of cell morphology parameters from automatic hematology analyzers to predict peripheral blood CD34 positive cell count after mobilization
| PLOS ONE |
| 2022 | Ig Gene Clonality Analysis Using Next-Generation Sequencing for Improved Minimal Residual Disease Detection with Significant Prognostic Value in Multiple Myeloma Patients
| JOURNAL OF MOLECULAR DIAGNOSTICS |
| 2022 | Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer
| CANCER RESEARCH AND TREATMENT |
| 2023 | Investigation of PARP Inhibitor Resistance Based on Serially Collected Circulating Tumor DNA in Patients With BRCA-Mutated Ovarian Cancer | CLINICAL CANCER RESEARCH |
| 2015 | Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots
| ANNALS OF LABORATORY MEDICINE |
| 2016 | Isolated 9p Duplication With der(Y)t(Y;9)(q12;p13.2) in a Male Patient With Cardiac Defect and Mental Retardation Confirmed by Chromosomal Microarray
| ANNALS OF LABORATORY MEDICINE |
| 2020 | Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy
| FRONTIERS IN PHARMACOLOGY |
| 2023 | Next-Generation Sequencing of Vitreoretinal Lymphoma by Vitreous Liquid Biopsy: Diagnostic Potential and Genotype/Phenotype Correlation
| INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE |
| 2022 | Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus
| TRANSLATIONAL VISION SCIENCE & TECHNOLOGY |
| 2015 | NOTCH2 missplicing can occur in relation to apoptosis | BLOOD |
| 2022 | Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample
| CANCER CELL INTERNATIONAL |
