Browsing by Yonsei Author : Choi, Jong Rak

Name:
Choi, Jong Rak [최종락] http://orcid.org/0000-0002-0608-2989
Department :
College of Medicine (의과대학) - Dept. of Laboratory Medicine (진단검사의학교실)
Y-HRN :
(Yonsei Health Research Network)
Scopus ID :
(35268193700)

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Issue DateTitleJournal Title
2020Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy FRONTIERS IN PHARMACOLOGY
2020Copy Number Variations and Multiallelic Variants in Korean Patients With Leber Congenital Amaurosis MOLECULAR VISION
2020Detection of recurrent, rare, and novel gene fusions in patients with acute leukemia using next-generation sequencing approachesHEMATOLOGICAL ONCOLOGY
2020Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical DevelopmentPEDIATRIC NEUROLOGY
2020Newborn hereditary elliptocytosis confirmed by familial genetic testingINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
2019Genetic and clinical features of SCN8A developmental and epileptic encephalopathyEPILEPSY RESEARCH
2019Clinical utility of targeted NGS panel with comprehensive bioinformatics analysis for patients with acute lymphoblastic leukemiaLEUKEMIA & LYMPHOMA
2019Clinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic MalignanciesJOURNAL OF MOLECULAR DIAGNOSTICS
2019The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report BMC MEDICAL GENETICS
2019FLT3 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
2019Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neopla는 PLOS ONE
2019Phenotypic and genotypic characterization of Acinetobacter spp. panel strains: A cornerstone to facilitate antimicrobial development FRONTIERS IN MICROBIOLOGY
2019Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy PLoS One
2019Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis BMC Medical Genomics
2019Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency Scientific Reports
2019Proband-Only Clinical Exome Sequencing for Neurodevelopmental DisabilitiesPEDIATRIC NEUROLOGY
2018A patient with B-cell acute lymphoblastic leukemia with PAX5-ETV6 rearrangement with dic(9;12)(p13;p13) identified by chromosomal microarray.ANNALS OF HEMATOLOGY
2018The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy FRONTIERS IN NEUROLOGY
2018Application 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
2018Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단 Journal of the Korean Child Neurology Society (대한소아신경학회지)
2018Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathyEPILEPSY RESEARCH
2018Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development. ANNALS OF LABORATORY MEDICINE
2018SNP-based next-generation sequencing reveals low-level mixed chimerism after allogeneic hematopoietic stem cell transplantation.ANNALS OF HEMATOLOGY
2018Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing BMC MEDICAL GENOMICS
2017Validation and Optimization of the Ion Torrent S5 XL Sequencer and Oncomine Workflow for BRCA1 and BRCA2 Genetic Testing ONCOTARGET
2017Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia ANNALS OF LABORATORY MEDICINE
2017Effects of Neutralization by Soluble ABH Antigens Produced by Transplanted Kidneys From ABO-Incompatible Secretor Donors ANNALS OF LABORATORY MEDICINE
2017Diagnostic application of clinical exome sequencing in Leber congenital amaurosis MOLECULAR VISION
2017Concomitant AID Expression and BCL7A Loss Correlates With Accelerated Phase Progression and Imatinib Resistance in Chronic Myeloid Leukemia ANNALS OF LABORATORY MEDICINE
2017First report of blaOXA-499 as a carbapenemase 1 gene from Acinetobacter pittiiANTIMICROBIAL AGENTS AND CHEMOTHERAPY
2017Panel strain of Klebsiella pneumoniae for beta-lactam antibiotic evaluation: their phenotypic and genotypic characterization PEERJ
2017Identification of cell morphology parameters from automatic hematology analyzers to predict peripheral blood CD34 positive cell count after mobilization PLOS ONE
2017A novel association between relaxin receptor polymorphism and hematopoietic stem cell yield after mobilization PLOS ONE
2017The effect of trauma and PTSD on telomere length: An exploratory study in people exposed to combat trauma SCIENTIFIC REPORTS
2017Molecular 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
2017Whole 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
2017KCNT1 돌연변이가 확인된 영아 이동성 부분 발작뇌전증 환아에서의 Quinidine 치료를 시도한 영아 1예 Journal of the Korean Child Neurology Society (대한소아신경학회지)
2017Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus SyndromeJAMA OPHTHALMOLOGY
2017Mowat-Wilson syndrome presenting with fever-associated seizuresEPILEPTIC DISORDERS
2017Next-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
2017Telomere length in alcohol dependence: A role for impulsive choice and childhood maltreatmentPSYCHONEUROENDOCRINOLOGY
2016Survey of Clinical Laboratory Practices for 2015 Middle East Respiratory Syndrome Coronavirus Outbreak in the Republic of Korea ANNALS OF LABORATORY MEDICINE
2016A multicenter phase II study of sorafenib in combination with erlotinib in patients with advanced non-small cell lung cancer (KCSG-0806)LUNG CANCER
2016Bone 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
2016Minor BCR-ABL1-Positive Acute Myeloid Leukemia Associated With the NPM1 Mutation and FLT3 Internal Tandem Duplication ANNALS OF LABORATORY MEDICINE
2016Development and comparison of warfarin dosing algorithms for stroke patients YONSEI MEDICAL JOURNAL
2016Isolated 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
2016Guidelines for the Laboratory Diagnosis of Middle East Respiratory Syndrome Coronavirus in Korea INFECTION AND CHEMOTHERAPY
2016Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia ANNALS OF LABORATORY MEDICINE
2016Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variantsBREAST CANCER RESEARCH AND TREATMENT

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