| 2024 | NUP98 is rearranged in 5.0% of adult East Asian patients with AML
| BLOOD ADVANCES |
| 2024 | Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy
| ANNALS OF LABORATORY MEDICINE |
| 2024 | Evaluation of autoimmune liver disease antibodies in hepatitis patients
| PLOS ONE |
| 2024 | Enhancing mutation detection in multiple myeloma with an error-corrected ultra-sensitive NGS assay without plasma cell enrichment
| CANCER CELL INTERNATIONAL |
| 2024 | 진단 시 낮은 종양 분율에 의해 유전 검사 위음성을 보인 급성 백혈병 1예: 최신 진단 기준에 비춘 시사점
| Laboratory Medicine Online |
| 2024 | Real-World Clinical Utility of Targeted RNA Sequencing in Leukemia Diagnosis and Management
| CANCERS |
| 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 | 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 | Comprehensive insights into AML relapse: genetic mutations, clonal evolution, and clinical outcomes
| CANCER CELL INTERNATIONAL |
| 2024 | Unraveling trajectories from aplastic anemia to hematologic malignancies: genetic and molecular insights
| FRONTIERS IN ONCOLOGY |
| 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
| Laboratory Medicine Online |
| 2024 | Circulating Tumor DNA Reflects Histologic and Clinical Characteristics of Various Lymphoma Subtypes
| CANCER RESEARCH AND TREATMENT |
| 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 | 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
| CANCERS |
| 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 | 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 | Comparative Analysis of the Molecular Characteristics of Group B Streptococcus Isolates Collected from Pregnant Korean Women Using Whole-genome Sequencing
| ANNALS OF LABORATORY MEDICINE |
| 2023 | In-depth circulating tumor DNA sequencing for prognostication and monitoring in natural killer/T-cell lymphomas
| FRONTIERS IN ONCOLOGY |
| 2023 | The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective
| INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES |
| 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
| 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 | Prevalence and Genetic Analysis of Resistance Mechanisms of Linezolid-Nonsusceptible Enterococci in a Tertiary Care Hospital Examined via Whole-Genome Sequencing
| ANTIBIOTICS-BASEL |
| 2022 | Applications of molecular barcode sequencing for the detection of low-frequency variants in circulating tumour DNA from hepatocellular carcinoma | LIVER INTERNATIONAL |
| 2022 | Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample
| CANCER CELL INTERNATIONAL |
| 2022 | An induced pluripotent stem cell line (YCMi006-A) generated from a patient with hypertrophic cardiomyopathy who carries the ACTA1 mutation p.Ile343Met
| STEM CELL RESEARCH |
| 2022 | Feasibility and clinical applicability of genomic profiling based on cervical smear samples in patients with endometrial cancer
| FRONTIERS IN ONCOLOGY |
| 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 | Metabolic subtype reveals potential therapeutic vulnerability in acute promyelocytic leukaemia
| CLINICAL AND TRANSLATIONAL MEDICINE |
| 2022 | Amplification of the Chromosomal blaCTX-M-14 Gene in Escherichia coli Expanding the Spectrum of Resistance under Antimicrobial Pressure
| MICROBIOLOGY SPECTRUM |
| 2022 | Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus
| TRANSLATIONAL VISION SCIENCE & TECHNOLOGY |
| 2022 | Next-generation sequencing of molecular tagged circulating cell free DNA of hepatocellular carcinoma | CLINICA CHIMICA ACTA |
| 2022 | Cytogenetic testing by fluorescence in situ hybridization is improved by plasma cell sorting in multiple myeloma
| SCIENTIFIC REPORTS |
| 2022 | A Single-Center Experience on HLA Typing with 11 Loci Next Generation Sequencing in Korean Patients with Hematologic Disease
| DIAGNOSTICS |
| 2022 | 조기영아성간질성뇌병증 환자에서 de novo로 확인된 HCN1 유전자 돌연변이 1예 보고
| Laboratory Medicine Online |
| 2022 | Derivation of YCMi005-A, a human-induced pluripotent stem cell line, from a patient with dilated cardiomyopathy carrying missense variant in TPM1 (p. Glu192Lys)
| STEM CELL RESEARCH |
| 2022 | Generation of a human induced pluripotent stem cell line YCMi004-A from a patient with dilated cardiomyopathy carrying a protein-truncating mutation of the Titin gene and its differentiation towards cardiomyocytes
| STEM CELL RESEARCH |
| 2022 | Concomitant Diagnosis of Primary Bone Marrow B-Cell Non-Hodgkin Lymphoma and Essential Thrombocythemia: A Case Report
| ANNALS OF LABORATORY MEDICINE |
| 2022 | Trajectory of genetic alterations associated with colistin resistance in Acinetobacter baumannii during an in-hospital outbreak of infection | JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY |
| 2022 | Secondary Germline CDKN2A Mutation Identified using Liquid Biopsy in a Patient with Esophageal Cancer
| Laboratory Medicine Online |
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