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| 2025 | Feasibility of Circulating Tumor DNA Detection in the Cerebrospinal Fluid of Patients With Central Nervous System Involvement in Large B-Cell Lymphoma
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| 2024 | The utility of next generation sequencing-based minimal residual disease monitoring in a post-myeloproliferative neoplasm acute myeloid leukemia patient: a case report | LEUKEMIA & LYMPHOMA |
| 2024 | NUP98 is rearranged in 5.0% of adult East Asian patients with AML
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| 2024 | Application of Optical Genome Mapping to the Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy 1
| ANNALS OF LABORATORY MEDICINE |
| 2024 | Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy
| ANNALS OF LABORATORY MEDICINE |
| 2024 | Enhancing mutation detection in multiple myeloma with an error-corrected ultra-sensitive NGS assay without plasma cell enrichment
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| 2024 | Genotype Analysis of Respiratory Syncytial Virus Before and After the COVID-19 Pandemic Using Whole-Genome Sequencing: A Prospective, Single-Center Study in Korea From 2019 to 2022
| JOURNAL OF KOREAN MEDICAL SCIENCE |
| 2024 | 혈중 순환 종양 DNA 분석 임상 적용 가이드라인 소개
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| 2024 | 진단 시 낮은 종양 분율에 의해 유전 검사 위음성을 보인 급성 백혈병 1예: 최신 진단 기준에 비춘 시사점
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| 2024 | Real-World Clinical Utility of Targeted RNA Sequencing in Leukemia Diagnosis and Management
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| 2024 | NUP214 Rearrangements in Leukemia Patients: A Case Series From a Single Institution
| ANNALS OF LABORATORY MEDICINE |
| 2024 | Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies
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| 2024 | Comparison of exon-level copy number variants in CytoScan XON assay and next-generation sequencing in clinical samples | CLINICA CHIMICA ACTA |
| 2024 | Monitoring measurable residual disease in paediatric acute lymphoblastic leukaemia using immunoglobulin gene clonality based on next-generation sequencing
| CANCER CELL INTERNATIONAL |
| 2024 | Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases | JAMA NETWORK OPEN |
| 2024 | ctDNA predicts clinical T1a to pathological T3a upstaging after partial nephrectomy | CANCER SCIENCE |
| 2024 | Comprehensive insights into AML relapse: genetic mutations, clonal evolution, and clinical outcomes
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| 2024 | Clinical Practice Guideline for Blood-based Circulating Tumor DNA Assays
| ANNALS OF LABORATORY MEDICINE |
| 2024 | Association Between Aortic Valve Sclerosis and Clonal Hematopoiesis of Indeterminate Potential
| ANNALS OF LABORATORY MEDICINE |
| 2024 | Human epidermal growth factor receptor-2 expression and subsequent dynamic changes in patients with ovarian cancer
| SCIENTIFIC REPORTS |
| 2024 | Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy | EPILEPSIA |
| 2024 | CEBPA double mutations associated with ABO antigen weakness in hematologic diseases
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| 2024 | Unraveling trajectories from aplastic anemia to hematologic malignancies: genetic and molecular insights
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| 2024 | Serial Circulating Tumor DNA Analysis with a Tumor-Naïve Next-Generation Sequencing Panel Detects Minimal Residual Disease and Predicts Outcome in Ovarian Cancer | CANCER RESEARCH |
| 2024 | 저신장 환아에서 발견한 TRAPPC2 유전자 돌연변이의 기능 검사를 통한 해석 1예 보고
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| 2024 | Circulating Tumor DNA Reflects Histologic and Clinical Characteristics of Various Lymphoma Subtypes
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| 2024 | Clinical relevance of clonal hematopoiesis and its interference in cell-free DNA profiling of patients with gastric cancer | CLINICAL CHEMISTRY AND LABORATORY MEDICINE |
| 2023 | PTPN23 Neurodevelopmental Disorder Presenting With Optic Atrophy and Spasmus Nutans-Like Nystagmus | JOURNAL OF NEURO-OPHTHALMOLOGY |
| 2023 | Next-Generation Sequencing of Vitreoretinal Lymphoma by Vitreous Liquid Biopsy: Diagnostic Potential and Genotype/Phenotype Correlation
| INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE |
| 2023 | Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia
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| 2023 | Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression
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| 2023 | Utility of Plasma Microbial Cell-Free DNA Whole-Genome Sequencing for Diagnosis of Invasive Aspergillosis in Patients With Hematologic Malignancy or COVID-19 | JOURNAL OF INFECTIOUS DISEASES |
| 2023 | Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders | JOURNAL OF MOLECULAR DIAGNOSTICS |
| 2023 | Investigation of PARP Inhibitor Resistance Based on Serially Collected Circulating Tumor DNA in Patients With BRCA-Mutated Ovarian Cancer | CLINICAL CANCER RESEARCH |
| 2023 | Exploring the Characteristics of Circulating Tumor DNA in Pt1a Clear Cell Renal Cell Carcinoma: A Pilot Study
| CANCERS |
| 2023 | RAD51/geminin/γH2AX immunohistochemical expression predicts platinum-based chemotherapy response in ovarian high-grade serous carcinoma
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| 2023 | Development of a Next-generation Sequencing-based Gene Panel Test to Detect Measurable Residual Disease in Acute Myeloid Leukemi
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| 2023 | Application of precision medicine based on next-generation sequencing and immunohistochemistry in ovarian cancer: a real-world experience
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| 2023 | Development and validation of sensitive BCR::ABL1 fusion gene quantitation using next-generation sequencing
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| 2023 | Genetic diagnosis of inborn errors of immunity using clinical exome sequencing
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| 2023 | In-depth circulating tumor DNA sequencing for prognostication and monitoring in natural killer/T-cell lymphomas
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| 2023 | The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective
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| 2023 | Copy-number analysis by base-level normalization: An intuitive visualization tool for evaluating copy number variations | CLINICAL GENETICS |
| 2022 | Analysis of trio test in neurodevelopmental disorders
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| 2022 | Analytical and Clinical Validation of Cell-Free Circulating Tumor DNA Assay for the Estimation of Tumor Mutational Burden | CLINICAL CHEMISTRY |
| 2022 | Rare Gene Rearrangement t(11;22)(q23;q13)/ KMT2A-EP300 in Therapy-related Acute Myeloid Leukemia: A Case Report
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| 2022 | Applications of molecular barcode sequencing for the detection of low-frequency variants in circulating tumour DNA from hepatocellular carcinoma | LIVER INTERNATIONAL |
| 2022 | Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer
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| 2022 | Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample
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