| 2026 | Impact of germline RAD51D mutations on breast cancer: Susceptibility to DNA-damaging agents
| MOLECULAR THERAPY ONCOLOGY |
| 2026 | Germline Mutations Related to Complete Remission After Neoadjuvant Chemotherapy in Patients With Triple-negative Breast Cancer
| JOURNAL OF BREAST CANCER |
| 2026 | Development and Performance Validation of a Comprehensive Liquid Biopsy Genotyping Panel for Pan-cancer Analysis | ANNALS OF LABORATORY MEDICINE |
| 2026 | A novel PSEN1 (p.Gln223Leu) variant associated with spastic paraparesis and early-onset Alzheimer's disease
| JOURNAL OF ALZHEIMERS DISEASE REPORTS |
| 2025 | Auditory genotype-phenotype correlation of patients with variants in STRC | SCIENTIFIC REPORTS |
| 2025 | Utilization of cell-free DNA metagenomic analysis for early detection and microbial identification in prosthetic joint infections: a prospective cohort study in Korea
| FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY |
| 2025 | Prevalence of germline CHEK2 variants in East Asians and Koreans based on population genomic databases | BREAST CANCER |
| 2025 | The audiological phenotype of patients with a variant in MYH9 and MYH14 genes
| SCIENTIFIC REPORTS |
| 2025 | Korean patients with hereditary cancer: a prospective multicentre cohort study protocol exploring psychosocial and health outcomes
| BMJ OPEN |
| 2025 | Identification of de novo BSCL2 Asn88Ser Variant with Atypical Presentation of Distal Hereditary Motor Neuropathy Type 5: Clinical Challenge in Diagnosis of Motor Neuron Diseases | Journal of the Korean Neurological Association(대한신경과학회지) |
| 2025 | 미국국립종합암네트워크 가이드라인 유전적/가족력 고위험 평가: 유방, 난소 및 췌장 3.2024 버전의 주요 개정사항 | Laboratory Medicine Online |
| 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 PALB2 Germline Variant in East Asians and Koreans through Population Database Analysis | CANCERS |
| 2024 | Klebsiella pneumoniae, a human-dog shuttle organism for the genes of CTX-M ESBL | SCIENTIFIC REPORTS |
| 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 | Prevalence and Genetic Analysis of Resistance Mechanisms of Linezolid-Nonsusceptible Enterococci in a Tertiary Care Hospital Examined via Whole-Genome Sequencing | Antibiotics |
| 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 bla(CTX-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 and 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 |
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