| 2019 | Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms
| PLOS ONE |
| 2019 | The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report
| BMC MEDICAL GENETICS |
| 2019 | Clinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic Malignancies | JOURNAL OF MOLECULAR DIAGNOSTICS |
| 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 |
| 2018 | Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단
| Journal of the Korean Child Neurology Society |
| 2018 | SNP-based next-generation sequencing reveals low-level mixed chimerism after allogeneic hematopoietic stem cell transplantation. | ANNALS OF HEMATOLOGY |
| 2018 | Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development.
| ANNALS OF LABORATORY MEDICINE |
| 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 |
| 2018 | The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy
| FRONTIERS IN NEUROLOGY |
| 2018 | Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy | EPILEPSY RESEARCH |
| 2018 | Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing
| BMC MEDICAL GENOMICS |
| 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 |
| 2017 | A Case of Therapy-Related Acute Leukemia With Mixed Phenotype With BCR-ABL1 After Treatment of Diffuse Large B-Cell Lymphoma
| ANNALS OF LABORATORY MEDICINE |
| 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 | Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results
| ANNALS OF SURGICAL TREATMENT AND RESEARCH |
| 2017 | Mowat-Wilson syndrome presenting with fever-associated seizures | EPILEPTIC DISORDERS |
| 2017 | Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome | JAMA OPHTHALMOLOGY |
| 2017 | Diagnostic application of clinical exome sequencing in Leber congenital amaurosis
| MOLECULAR VISION |
| 2017 | KCNT1 돌연변이가 확인된 영아 이동성 부분 발작뇌전증 환아에서의 Quinidine 치료를 시도한 영아 1예
| Journal of the Korean Child Neurology Society |
| 2017 | Whole genome and transcriptome analysis reveal MALDI-TOF MS and SDS-PAGE have limited performance for the detection of the key outer membrane protein in carbapenem-resistant Klebsiella pneumoniae isolates
| ONCOTARGET |
| 2017 | Molecular epidemiology and resistome analysis of multidrug-resistant ST11 Klebsiella pneumoniae strain containing multiple copies of extended-spectrum β-lactamase genes using whole-genome sequencing
| NEW MICROBIOLOGICA |
| 2017 | Effects of Neutralization by Soluble ABH Antigens Produced by Transplanted Kidneys From ABO-Incompatible Secretor Donors
| ANNALS OF LABORATORY MEDICINE |
| 2017 | The effect of trauma and PTSD on telomere length: An exploratory study in people exposed to combat trauma
| SCIENTIFIC REPORTS |
| 2017 | Telomere length in alcohol dependence: A role for impulsive choice and childhood maltreatment | PSYCHONEUROENDOCRINOLOGY |
| 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 | Panel strain of Klebsiella pneumoniae for beta-lactam antibiotic evaluation: their phenotypic and genotypic characterization
| PEERJ |
| 2017 | Validation and Optimization of the Ion Torrent S5 XL Sequencer and Oncomine Workflow for BRCA1 and BRCA2 Genetic Testing
| ONCOTARGET |
| 2017 | First report of blaOXA-499 as a carbapenemase 1 gene from Acinetobacter pittii | ANTIMICROBIAL AGENTS AND CHEMOTHERAPY |
| 2017 | Concomitant AID Expression and BCL7A Loss Associates With Accelerated Phase Progression and Imatinib Resistance in Chronic Myeloid Leukemia
| ANNALS OF LABORATORY MEDICINE |
| 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 | 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 | Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia
| ANNALS OF LABORATORY MEDICINE |
| 2016 | Guidelines for the Laboratory Diagnosis of Middle East Respiratory Syndrome Coronavirus in Korea
| INFECTION AND CHEMOTHERAPY |
| 2016 | Korean Society for Laboratory Medicine Practice Guidelines for the Molecular Diagnosis of Middle East Respiratory Syndrome During an Outbreak in Korea in 2015
| ANNALS OF LABORATORY MEDICINE |
| 2016 | Development and comparison of warfarin dosing algorithms for stroke patients
| YONSEI MEDICAL JOURNAL |
| 2016 | Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication
| ANNALS OF LABORATORY MEDICINE |
| 2016 | A multicenter phase II study of sorafenib in combination with erlotinib in patients with advanced non-small cell lung cancer (KCSG-0806) | LUNG CANCER |
| 2016 | Bone marrow chimerism detection using next generation sequencing based on single nucleotide polymorphisms following liver transplantation: comparison with short tandem repeat-PCR
| ANNALS OF LABORATORY MEDICINE |
| 2016 | Survey of Clinical Laboratory Practices for 2015 Middle East Respiratory Syndrome Coronavirus Outbreak in the Republic of Korea
| 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 | 천식 치료 중 우연히 발견된 Birt-Hogg-Dube 증후군 1예
| ALLERGY ASTHMA & RESPIRATORY DISEASE |
| 2015 | NOTCH2 missplicing can occur in relation to apoptosis | BLOOD |
| 2015 | Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder
| ANNALS OF LABORATORY MEDICINE |
| 2015 | Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement.
| JOURNAL OF MEDICAL GENETICS |
| 2015 | Clinical Implication of Highly Sensitive Detection of the BRAFV600E Mutation in Fine-Needle Aspirations According to the Thyroid Bethesda System in Patients With Conventional Papillary Thyroid Carcinoma | ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY |
| 2015 | MicroRNA-30d and microRNA-181a regulate HOXA11 expression in the uterosacral ligaments and are overexpressed in pelvic organ prolapse
| JOURNAL OF CELLULAR AND MOLECULAR MEDICINE |
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