| 2024 | Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy
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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
| ANNALS OF LABORATORY MEDICINE |
| 2024 | Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases | JAMA NETWORK OPEN |
| 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
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| 2024 | Association Between Aortic Valve Sclerosis and Clonal Hematopoiesis of Indeterminate Potential
| ANNALS OF LABORATORY MEDICINE |
| 2024 | 발작야간혈색소뇨증에서 GPI 결핍세포 검출을 위한 유세포검사법: 국내 실태조사 및 검사법 지침 제언
| Laboratory Medicine Online |
| 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 | Coagulation Testing in Real-World Setting: Insights From a Comprehensive Survey
| CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS |
| 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 | Next-Generation Sequencing of Vitreoretinal Lymphoma by Vitreous Liquid Biopsy: Diagnostic Potential and Genotype/Phenotype Correlation
| INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE |
| 2023 | A Case of Chronic Myeloid Leukemia with Micro BCR::ABL2 Rearrangement: Precaution in Reverse Transcription PCR to Prevent False Negativity
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| 2023 | BCR::ABL1 정량 검사의 국내 현황 조사(2022)
| Laboratory Medicine Online |
| 2023 | Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia
| BMC MEDICAL GENOMICS |
| 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 | 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
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| 2023 | CBFA2T3::GLIS2 유전자재배열을 동반한 소아 급성거핵모구백혈병의 국내 첫 증례 보고
| Laboratory Medicine Online |
| 2023 | Development of a Next-generation Sequencing-based Gene Panel Test to Detect Measurable Residual Disease in Acute Myeloid Leukemi
| ANNALS OF LABORATORY MEDICINE |
| 2023 | Development and validation of sensitive BCR::ABL1 fusion gene quantitation using next-generation sequencing
| CANCER CELL INTERNATIONAL |
| 2023 | Genetic diagnosis of inborn errors of immunity using clinical exome sequencing
| FRONTIERS IN IMMUNOLOGY |
| 2023 | FLT3-ITD 검사의 국내 현황 조사(2021)
| Laboratory Medicine Online |
| 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 |
| 2023 | A Case of STIL-TAL1-positive T-lymphoblastic Leukemia With a Minor Philadelphia-positive Clone
| ANNALS OF LABORATORY MEDICINE |
| 2023 | RAB29-NUCKS1 유전자재배열을 동반한 공격성NK세포백혈병: 증례보고
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| 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 |
| 2022 | Caspase-10 affects the pathogenesis of primary biliary cholangitis by regulating inflammatory cell death
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| 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 | 체액세포분석 수기검사: 국내 실태조사 및 임상검사실 지침(2021)
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| 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
| CANCER CELL INTERNATIONAL |
| 2022 | Recommendations for the Verification of Quantitative Molecular Hemato-Oncology Tests
| Laboratory Medicine Online |
| 2022 | 순환종양핵산 검사의 임상 적용
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| 2022 | Therapy-related Acute Lymphoblastic Leukaemia has a Unique Genetic Profile Compared to De Novo Acute Lymphoblastic Leukaemia
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| 2022 | Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy
| FRONTIERS IN NEUROLOGY |
| 2022 | Real-world data on prognostic value of measurable residual disease assessment by fragment analysis or next-generation sequencing in multiple myeloma | BRITISH JOURNAL OF HAEMATOLOGY |
| 2022 | 유전성 암 유전자에서 검출된 염기 변이의 해석을 위한 기능 연구 근거의 적용
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| 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 |
| 2022 | Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus
| TRANSLATIONAL VISION SCIENCE & TECHNOLOGY |
| 2022 | Cytogenetic testing by fluorescence in situ hybridization is improved by plasma cell sorting in multiple myeloma
| SCIENTIFIC REPORTS |
| 2022 | 조기영아성간질성뇌병증 환자에서 de novo로 확인된 HCN1 유전자 돌연변이 1예 보고
| Laboratory Medicine Online |
| 2022 | Clinical Practice Guidelines for Pre-Analytical Procedures of Plasma Epidermal Growth Factor Receptor Variant Testing
| 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 |
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