| 2025 | Carrier Frequency and Incidence of MUTYH-Associated Polyposis Based on Database Analysis in East Asians and Koreans
| ANNALS OF LABORATORY MEDICINE |
| 2024 | Clinicopathological Features and Oncological Outcomes of Germline Partner and Localizer of Breast Cancer 2-Mutated Breast Cancer in Korea | JOURNAL OF BREAST CANCER |
| 2024 | Natural History of Auditory Function in Patients with Alport Syndrome: A Case Series Study
| JOURNAL OF CLINICAL MEDICINE |
| 2024 | PALB2 생식세포 병원성 유전자 변이의 임상적 의의
| Laboratory Medicine Online |
| 2024 | Prevalence Estimation of the <i>PALB2</i> Germline Variant in East Asians and Koreans through Population Database Analysis
| CANCERS |
| 2024 | Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1
| JOURNAL OF CLINICAL MEDICINE |
| 2024 | Comparison of exon-level copy number variants in CytoScan XON assay and next-generation sequencing in clinical samples | CLINICA CHIMICA ACTA |
| 2024 | Histopathologic image-based deep learning classifier for predicting platinum-based treatment responses in high-grade serous ovarian cancer
| NATURE COMMUNICATIONS |
| 2024 | Identifying Contact Time Required for Secondary Transmission of Clostridioides difficile Infections by Using Real-Time Locating System
| EMERGING INFECTIOUS DISEASES |
| 2024 | Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases | JAMA NETWORK OPEN |
| 2024 | Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss | JOURNAL OF CLINICAL MEDICINE |
| 2024 | Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy | EPILEPSIA |
| 2024 | 저신장 환아에서 발견한 TRAPPC2 유전자 돌연변이의 기능 검사를 통한 해석 1예 보고
| Laboratory Medicine Online |
| 2023 | PTPN23 Neurodevelopmental Disorder Presenting With Optic Atrophy and Spasmus Nutans-Like Nystagmus | JOURNAL OF NEURO-OPHTHALMOLOGY |
| 2023 | MUTYH 생식세포 유전자 변이의 임상적 의의
| Laboratory Medicine Online |
| 2023 | Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression
| CANCERS |
| 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 | 선천성 이상의 염색체마이크로어레이 검사 지침(II): 보고 및 해석 지침
| Laboratory Medicine Online |
| 2023 | 선천성 이상의 염색체마이크로어레이 검사 지침(I): 일반 및 산전검사 지침
| Laboratory Medicine Online |
| 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 | Copy-number analysis by base-level normalization: An intuitive visualization tool for evaluating copy number variations | CLINICAL GENETICS |
| 2023 | Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report
| EUROPEAN HEART JOURNAL-CASE REPORTS |
| 2022 | 순환종양핵산 검사의 임상 적용
| Laboratory Medicine Online |
| 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 | Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy
| FRONTIERS IN NEUROLOGY |
| 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 | Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing
| FRONTIERS IN ENDOCRINOLOGY |
| 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 | 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 |
| 2022 | Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort
| GENES |
| 2021 | Establishment of a novel human iPSC line (YCMi003-A) from a patient with dilated cardiomyopathy carrying genetic variant LMNA p.Asp364His
| STEM CELL RESEARCH |
| 2021 | In Silico identification of a common mobile element insertion in exon 4 of RP1
| SCIENTIFIC REPORTS |
| 2021 | Novel indel mutation in the N gene of SARS-CoV-2 clinical samples that were diagnosed positive in a commercial RT-PCR assay | VIRUS RESEARCH |
| 2021 | Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish | HUMAN MOLECULAR GENETICS |
| 2021 | TUBB3 M323V Syndrome Presents with Infantile Nystagmus
| GENES |
| 2021 | Clinical characteristics of KCNQ2 encephalopathy | BRAIN & DEVELOPMENT |
| 2020 | Low-Dose Triple Antihypertensive Combination Therapy in Patients with Hypertension: A Randomized, Double-Blind, Phase II Study
| DRUG DESIGN DEVELOPMENT AND THERAPY |
| 2020 | Beneficial Chromosomal Integration of the Genes for CTX-M Extended-Spectrum β-Lactamase in Klebsiella pneumoniae for Stable Propagation
| MSYSTEMS |
| 2020 | Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations
| FRONTIERS IN NEUROLOGY |
| 2020 | Comparison of High-Throughput Fully Automated Immunoanalyzers for Detecting Hepatitis B Virus Infection
| ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE |
| 2020 | Comparative Results of QuantiFERON-TB Gold In-Tube and QuantiFERON-TB Gold Plus Assays for Detection of Tuberculosis Infection in Clinical Samples | JOURNAL OF CLINICAL MICROBIOLOGY |
| 2019 | 말초삽입 중심정맥관에서 채취한 혈액에서 동정된 Chryseobacterium hominis 1례 보고
| Laboratory Medicine Online |
| 2019 | Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis
| BMC Medical Genomics |
| 2019 | Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy
| PLoS One |
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