| 2022 | Feasibility and clinical applicability of genomic profiling based on cervical smear samples in patients with endometrial cancer
| FRONTIERS IN ONCOLOGY |
| 2019 | FLT3 Internal Tandem Duplication in Patients With Acute Myeloid Leukemia Is Readily Detectable in a Single Next-Generation Sequencing Assay Using the Pindel Algorithm
| ANNALS OF LABORATORY MEDICINE |
| 2016 | Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia
| ANNALS OF LABORATORY MEDICINE |
| 2020 | Fusobacterium nucleatum in biopsied tissues from colorectal cancer patients and alcohol consumption in Korea
| SCIENTIFIC REPORTS |
| 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 |
| 2020 | Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
| Endocrinology and Metabolism (대한내분비학회지) |
| 2019 | Genetic and clinical features of SCN8A developmental and epileptic encephalopathy | EPILEPSY RESEARCH |
| 2020 | Genetic diagnosis and clinical characteristics by etiological classification in early-onset epileptic encephalopathy with burst suppression pattern | EPILEPSY RESEARCH |
| 2023 | Genetic diagnosis of inborn errors of immunity using clinical exome sequencing
| FRONTIERS IN IMMUNOLOGY |
| 2020 | Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study
| SCIENTIFIC REPORTS |
| 2022 | Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy
| FRONTIERS IN NEUROLOGY |
| 2016 | Genome-wide CpG island methylation and intergenic demethylation propensities vary among different tumor sites
| NUCLEIC ACIDS RESEARCH |
| 2020 | Guidelines for Laboratory Diagnosis of Coronavirus Disease 2019 (COVID-19) in Korea
| ANNALS OF LABORATORY MEDICINE |
| 2017 | Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls
| CANCER RESEARCH AND TREATMENT |
| 2022 | Ig Gene Clonality Analysis Using Next-Generation Sequencing for Improved Minimal Residual Disease Detection with Significant Prognostic Value in Multiple Myeloma Patients
| JOURNAL OF MOLECULAR DIAGNOSTICS |
| 2022 | Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer
| CANCER RESEARCH AND TREATMENT |
| 2021 | In Silico identification of a common mobile element insertion in exon 4 of RP1
| SCIENTIFIC REPORTS |
| 2023 | In-depth circulating tumor DNA sequencing for prognostication and monitoring in natural killer/T-cell lymphomas
| FRONTIERS IN ONCOLOGY |
| 2023 | Investigation of PARP Inhibitor Resistance Based on Serially Collected Circulating Tumor DNA in Patients With BRCA-Mutated Ovarian Cancer | CLINICAL CANCER RESEARCH |
| 2016 | Isolated 9p Duplication With der(Y)t(Y;9)(q12;p13.2) in a Male Patient With Cardiac Defect and Mental Retardation Confirmed by Chromosomal Microarray
| ANNALS OF LABORATORY MEDICINE |
| 2017 | KCNT1 돌연변이가 확인된 영아 이동성 부분 발작뇌전증 환아에서의 Quinidine 치료를 시도한 영아 1예
| Journal of the Korean Child Neurology Society |
| 2021 | Low CtBP2 expression is associated with a stem cell-like signature and adverse clinical outcome in childhood B-cell lymphoblastic leukemia | LEUKEMIA |
| 2022 | Metabolic subtype reveals potential therapeutic vulnerability in acute promyelocytic leukaemia
| CLINICAL AND TRANSLATIONAL MEDICINE |
| 2019 | Missed Heterozygous Deletion in Study of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome
| JAMA OPHTHALMOLOGY |
| 2017 | Mowat-Wilson syndrome presenting with fever-associated seizures | EPILEPTIC DISORDERS |
| 2019 | Mutant Thr95Ile Transthyretin-Related Cardiac Amyloidosis With Polyneuropathy
| CIRCULATION JOURNAL |
| 2016 | Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations
| ONCOTARGET |
| 2020 | Newborn hereditary elliptocytosis confirmed by familial genetic testing | INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY |
| 2020 | Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy
| FRONTIERS IN PHARMACOLOGY |
| 2023 | Next-Generation Sequencing of Vitreoretinal Lymphoma by Vitreous Liquid Biopsy: Diagnostic Potential and Genotype/Phenotype Correlation
| INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE |
| 2019 | Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis
| BMC Medical Genomics |
| 2022 | Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus
| TRANSLATIONAL VISION SCIENCE & TECHNOLOGY |
| 2015 | NOTCH2 missplicing can occur in relation to apoptosis | BLOOD |
| 2022 | Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample
| CANCER CELL INTERNATIONAL |
| 2022 | Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort
| GENES |
| 2020 | Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia
| SCIENTIFIC REPORTS |
| 2021 | Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers
| SCIENTIFIC REPORTS |
| 2019 | Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities | PEDIATRIC NEUROLOGY |
| 2023 | RAD51/geminin/γH2AX immunohistochemical expression predicts platinum-based chemotherapy response in ovarian high-grade serous carcinoma
| JOURNAL OF GYNECOLOGIC ONCOLOGY |
| 2022 | Rare Gene Rearrangement t(11;22)(q23;q13)/ KMT2A-EP300 in Therapy-related Acute Myeloid Leukemia: A Case Report
| ANNALS OF LABORATORY MEDICINE |
| 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 |
| 2021 | Real-world data on the survival outcome of patients with newly diagnosed Waldenström macroglobulinemia
| KOREAN JOURNAL OF INTERNAL MEDICINE |
| 2020 | Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations
| FRONTIERS IN NEUROLOGY |
| 2022 | Recommendations for the Verification of Quantitative Molecular Hemato-Oncology Tests
| Laboratory Medicine Online |
| 2021 | Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients
| SCIENTIFIC REPORTS |
| 2022 | Secondary Germline CDKN2A Mutation Identified using Liquid Biopsy in a Patient with Esophageal Cancer
| Laboratory Medicine Online |
| 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 |
| 2021 | Serial Detection of MYD88 L265P Mutation in the Aqueous Humor of a Patient with Vitreoretinal Lymphoma for Disease Monitoring | OCULAR IMMUNOLOGY AND INFLAMMATION |
| 2020 | SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization
| HUMAN MOLECULAR GENETICS |
| 2018 | SNP-based next-generation sequencing reveals low-level mixed chimerism after allogeneic hematopoietic stem cell transplantation. | ANNALS OF HEMATOLOGY |
| 2019 | Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy
| PLoS One |
| 2019 | Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency
| Scientific Reports |
| 2016 | t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia
| ANNALS OF LABORATORY MEDICINE |
| 2018 | Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy | EPILEPSY RESEARCH |
| 2020 | Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy | BRAIN & DEVELOPMENT |
| 2019 | Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neopla는
| PLOS ONE |
| 2017 | Telomere length in alcohol dependence: A role for impulsive choice and childhood maltreatment | PSYCHONEUROENDOCRINOLOGY |
| 2017 | The effect of trauma and PTSD on telomere length: An exploratory study in people exposed to combat trauma
| SCIENTIFIC REPORTS |
| 2018 | The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy
| FRONTIERS IN NEUROLOGY |
| 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 |
