| 2019 | A Child With Lymphangioma Due to Somatic Mutation in PIK3CA Successfully Treated With Everolimus | PEDIATRIC NEUROLOGY |
| 2022 | A comparative study of next-generation sequencing and fragment analysis for the detection and allelic ratio determination of FLT3 internal tandem duplication
| DIAGNOSTIC PATHOLOGY |
| 2018 | A patient with B-cell acute lymphoblastic leukemia with PAX5-ETV6 rearrangement with dic(9;12)(p13;p13) identified by chromosomal microarray. | ANNALS OF HEMATOLOGY |
| 2019 | A Somatic p.Phe29del Mutation of Connexin 26 (GJB2) Manifesting as Acantholytic Dyskeratotic Epidermal Nevus | JAMA Dermatology |
| 2015 | A subset of CD45+/CD19 - cells in bone marrow may be associated with clinical outcomes of patients with mantle cell lymphoma | LEUKEMIA & LYMPHOMA |
| 2017 | Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome | JAMA OPHTHALMOLOGY |
| 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 |
| 2021 | Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study
| SCIENTIFIC REPORTS |
| 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 |
| 2020 | Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy | CLINICA CHIMICA ACTA |
| 2022 | Application of CRISPR/Cas9-based mutant enrichment technique to improve the clinical sensitivity of plasma EGFR testing in patients with non-small cell lung cancer
| CANCER CELL INTERNATIONAL |
| 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 |
| 2018 | Application of Multiplex Ligation-Dependent Probe Amplification Assay for Genotyping Major Blood Group Systems Including DEL Variants in the D-Negative Korean Population
| ANNALS OF LABORATORY MEDICINE |
| 2023 | Application of precision medicine based on next-generation sequencing and immunohistochemistry in ovarian cancer: a real-world experience
| JOURNAL OF GYNECOLOGIC ONCOLOGY |
| 2022 | Applications of molecular barcode sequencing for the detection of low-frequency variants in circulating tumour DNA from hepatocellular carcinoma | LIVER INTERNATIONAL |
| 2024 | Association Between Aortic Valve Sclerosis and Clonal Hematopoiesis of Indeterminate Potential
| ANNALS OF LABORATORY MEDICINE |
| 2017 | BRCA1 and BRCA2 mutation predictions using the BRCAPRO and Myriad models in Korean ovarian cancer patients | GYNECOLOGIC ONCOLOGY |
| 2022 | Changes in DNA methylation after 6-week exercise training in colorectal cancer survivors: A preliminary study | ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY |
| 2021 | Chimerism Assay Using Single Nucleotide Polymorphisms Adjacent and in Linkage-Disequilibrium Enables Sensitive Disease Relapse Monitoring after Hematopoietic Stem-Cell Transplantation | CLINICAL CHEMISTRY |
| 2016 | Chronic Myeloid Leukemia With Rare Variant b2a3 (e13a3) BCR-ABL1 Fusion
| ANNALS OF LABORATORY MEDICINE |
| 2023 | Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression
| CANCERS |
| 2024 | Circulating Tumor DNA Reflects Histologic and Clinical Characteristics of Various Lymphoma Subtypes
| CANCER RESEARCH AND TREATMENT |
| 2021 | Clinical characteristics of KCNQ2 encephalopathy | BRAIN & DEVELOPMENT |
| 2019 | Clinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic Malignancies | JOURNAL OF MOLECULAR DIAGNOSTICS |
| 2019 | Clinical features and treatment efficacy in cdkl5 mutation-related epileptic encephalopathy in the infant
| Annals of Child Neurology |
| 2020 | Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development | PEDIATRIC NEUROLOGY |
| 2024 | Clinical Practice Guideline for Blood-based Circulating Tumor DNA Assays
| ANNALS OF LABORATORY MEDICINE |
| 2023 | Clinical relevance of clonal hematopoiesis and its interference in cell-free DNA profiling of patients with gastric cancer | CLINICAL CHEMISTRY AND LABORATORY MEDICINE |
| 2019 | Clinical Significance of Revised Banff Criteria in the Diagnosis of Antibody-Mediated Rejection
| TRANSPLANTATION PROCEEDINGS |
| 2019 | Clinical utility of targeted NGS panel with comprehensive bioinformatics analysis for patients with acute lymphoblastic leukemia | LEUKEMIA & LYMPHOMA |
| 2017 | Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients
| CANCER RESEARCH AND TREATMENT |
| 2022 | Concomitant Diagnosis of Primary Bone Marrow B-Cell Non-Hodgkin Lymphoma and Essential Thrombocythemia: A Case Report
| ANNALS OF LABORATORY MEDICINE |
| 2020 | Copy Number Variations and Multiallelic Variants in Korean Patients With Leber Congenital Amaurosis
| MOLECULAR VISION |
| 2023 | Copy-number analysis by base-level normalization: An intuitive visualization tool for evaluating copy number variations | CLINICAL GENETICS |
| 2022 | Cytogenetic testing by fluorescence in situ hybridization is improved by plasma cell sorting in multiple myeloma
| SCIENTIFIC REPORTS |
| 2018 | Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development.
| ANNALS OF LABORATORY MEDICINE |
| 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 |
| 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 |
| 2018 | Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-Gene Panels: Beyond BRCA1/2
| CANCER RESEARCH AND TREATMENT |
| 2017 | Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia
| ANNALS OF LABORATORY MEDICINE |
| 2016 | Detection of MYD88 L265P in patients with lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia and other B-cell non-Hodgkin lymphomas
| BLOOD RESEARCH |
| 2020 | Detection of recurrent, rare, and novel gene fusions in patients with acute leukemia using next-generation sequencing approaches | HEMATOLOGICAL ONCOLOGY |
| 2023 | Development and validation of sensitive BCR::ABL1 fusion gene quantitation using next-generation sequencing
| CANCER CELL INTERNATIONAL |
| 2023 | Development of a Next-generation Sequencing-based Gene Panel Test to Detect Measurable Residual Disease in Acute Myeloid Leukemi
| ANNALS OF LABORATORY MEDICINE |
| 2017 | Diagnostic application of clinical exome sequencing in Leber congenital amaurosis
| MOLECULAR VISION |
| 2018 | Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단
| Journal of the Korean Child Neurology Society |
| 2023 | Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia
| BMC MEDICAL GENOMICS |
| 2018 | Difference in Risk of Breast and Ovarian Cancer According to Putative Functional Domain Regions in Korean BRCA1/2 Mutation Carriers. | CLINICAL BREAST CANCER |
| 2022 | Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation
| HUMAN GENETICS |
| 2021 | Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome | EPILEPSIA |
| 2018 | Distinct Clinical Courses of Epithelial Ovarian Cancer with Mutations in BRCA1 5' and 3' Exons | Anticancer Research |
| 2021 | DYNC2H1 variants cause Leber congenital amaurosis without syndromic features | CLINICAL GENETICS |
| 2018 | Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
| JOURNAL OF CLINICAL NEUROLOGY |
| 2018 | Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing
| BMC MEDICAL GENOMICS |
| 2021 | Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish | HUMAN MOLECULAR GENETICS |
| 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 |
| 2016 | Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants | BREAST CANCER RESEARCH AND TREATMENT |
| 2021 | Expanding the Non-Invasive Diagnosis of Acute Rejection in Kidney Transplants Through Detection of Donor-Derived DNA in Urine: Proof-of-Concept Study
| ANNALS OF LABORATORY MEDICINE |
| 2023 | Exploring the Characteristics of Circulating Tumor DNA in Pt1a Clear Cell Renal Cell Carcinoma: A Pilot Study
| CANCERS |
