2021 | Evaluation of Combined Cancer Markers With Lactate Dehydrogenase and Application of Machine Learning Algorithms for Differentiating Benign Disease From Malignant Ovarian Cancer | CANCER CONTROL |
2021 | Exosome-based detection of EGFR T790M in plasma and pleural fluid of prospectively enrolled non-small cell lung cancer patients after first-line tyrosine kinase inhibitor therapy
| CANCER CELL INTERNATIONAL |
2020 | Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
| Endocrinology and Metabolism (대한내분비학회지) |
2020 | Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophy | CLINICA CHIMICA ACTA |
2020 | Altered Gut Microbiota and Shift in Bacteroidetes between Young Obese and Normal-Weight Korean Children: A Cross-Sectional Observational Study
| BIOMED RESEARCH INTERNATIONAL |
2020 | A novel approach for tuberculosis diagnosis using exosomal DNA and droplet digital PCR | CLINICAL MICROBIOLOGY AND INFECTION |
2020 | Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy | BRAIN & DEVELOPMENT |
2020 | Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy
| FRONTIERS IN PHARMACOLOGY |
2020 | Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A)
| JOURNAL OF CLINICAL NEUROLOGY |
2020 | Copy Number Variations and Multiallelic Variants in Korean Patients With Leber Congenital Amaurosis
| MOLECULAR VISION |
2020 | Frequency and Clinical Characteristics of Unselected Korean Gastric Cancer Patients with a Germline CDH1 V832M Mutation
| JOURNAL OF CANCER |
2019 | Selecting short length nucleic acids localized in exosomes improves plasma EGFR mutation detection in NSCLC patients
| Cancer Cell International |
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 |
2017 | Diagnostic application of clinical exome sequencing in Leber congenital amaurosis
| MOLECULAR VISION |
2017 | Assessment of real-time PCR method for detection of EGFR mutation using both supernatant and cell pellet of malignant pleural effusion samples from non-small-cell lung cancer patients | CLINICAL CHEMISTRY AND LABORATORY MEDICINE |
2017 | A novel association between relaxin receptor polymorphism and hematopoietic stem cell yield after mobilization
| PLOS ONE |
2017 | Identification of cell morphology parameters from automatic hematology analyzers to predict peripheral blood CD34 positive cell count after mobilization
| PLOS ONE |
2017 | Validation and Optimization of the Ion Torrent S5 XL Sequencer and Oncomine Workflow for BRCA1 and BRCA2 Genetic Testing
| ONCOTARGET |
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 |
2016 | An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis
| ANNALS OF LABORATORY MEDICINE |
2016 | Chronic Myeloid Leukemia With Rare Variant b2a3 (e13a3) BCR-ABL1 Fusion
| ANNALS OF LABORATORY MEDICINE |
2016 | t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia
| ANNALS OF LABORATORY MEDICINE |
2016 | Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants | BREAST CANCER RESEARCH AND TREATMENT |
2016 | PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis
| ANNALS OF LABORATORY MEDICINE |
2015 | Isochromosome 1q in childhood Burkitt lymphoma: the first reported case in Korea
| ANNALS OF LABORATORY MEDICINE |
2015 | Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots
| ANNALS OF LABORATORY MEDICINE |
2015 | Establishing quality control ranges for antimicrobial susceptibility testing of Escherichia coli, Pseudomonas aeruginosa, and Staphylococcus aureus: a cornerstone to develop reference strains for Korean clinical microbiology laboratories
| ANNALS OF LABORATORY MEDICINE |
2015 | NOTCH2 missplicing can occur in relation to apoptosis | BLOOD |
2015 | First Korean case of SATB2-associated 2q32-q33 microdeletion syndrome
| ANNALS OF LABORATORY MEDICINE |
2015 | Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder
| ANNALS OF LABORATORY MEDICINE |
2015 | 치료적 혈장교환술에 사용하는 치환용액의 선택과 주의사항
| Korean Journal of Blood Transfusion (대한수혈학회지) |
2013 | Analysis of mutations in the XPD gene in a patient with brittle hair | ANNALS OF CLINICAL AND LABORATORY SCIENCE |