1. Journal Papers

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Issue DateTitleJournal Title
2025Clinical Pharmacogenetic Testing and Application: 2024 Updated Guidelines by the Korean Society for Laboratory Medicine ANNALS OF LABORATORY MEDICINE
2025Mock communities to assess biases in next generation sequencing of bacterial species representationAnnals of Clinical Microbiology
2025The effects of G1899 Korean red ginseng extract powder on long COVID for acute COVID19 infection: A randomized, double-blind, placebo-controlled trial JOURNAL OF GINSENG RESEARCH
2024Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor: The Use of Nanopore Long-Read Sequencing Solving the Variant Phase NEUROLOGY-GENETICS
2024De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder AMERICAN JOURNAL OF HUMAN GENETICS
2024Better Prediction of Clinical Outcome with Estimated Glomerular Filtration Rate by CKD-EPI 2021JOURNAL OF APPLIED LABORATORY MEDICINE
2024Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases NPJ GENOMIC MEDICINE
2025Association of time to red blood cell transfusion on outcomes in patients with gastrointestinal bleeding ANNALS OF MEDICINE
2025Genomic surveillance of SARS-CoV-2 variants using pooled WGS SCIENTIFIC REPORTS
2025Immunologic Response and Effects of COVID-19 Vaccines in Patients with Antineutrophil Cytoplasmic Antibody-Associated Vasculitis YONSEI MEDICAL JOURNAL
2025Factors Influencing Fluorescence-activated Cell Sorting for Multiple Myeloma Fluorescence in situ Hybridization: Real-world Experience ANNALS OF LABORATORY MEDICINE
2025Identification of IGH::DUX4 Rearrangements Using RNA-sequencing in a Patient with ALL: A Case Report ANNALS OF LABORATORY MEDICINE
2025Comprehensive clinico-genetic analysis reveals prognostic factors of blastic plasmacytoid dendritic cell neoplasmBRITISH JOURNAL OF HAEMATOLOGY
2025Digenic impairments of haploinsufficient genes in patients with craniosynostosis JCI INSIGHT
2025Identification of de novo BSCL2 Asn88Ser Variant with Atypical Presentation of Distal Hereditary Motor Neuropathy Type 5: Clinical Challenge in Diagnosis of Motor Neuron DiseasesJournal of the Korean Neurological Association(대한신경과학회지)
2024Dynamic chronological changes of upper reference limits for liver enzymes in the nationwide population: the Korean National Health Insurance Service-National Sample Cohort 2002-2013ARCHIVES OF MEDICAL SCIENCE
2024Clinicopathological Features and Oncological Outcomes of Germline Partner and Localizer of Breast Cancer 2-Mutated Breast Cancer in KoreaJOURNAL OF BREAST CANCER
2024JR 혈액형군과 Anti-Jra 항체 Korean Journal of Blood Transfusion(대한수혈학회지)
2024MYH1 deficiency disrupts outer hair cell electromotility, resulting in hearing loss EXPERIMENTAL AND MOLECULAR MEDICINE
2024A conserved pilin from uncultured gut bacterial clade TANB77 enhances cancer immunotherapyNATURE COMMUNICATIONS

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