Browsing by Yonsei Author : Choi, Jong Rak

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

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Issue DateTitleJournal Title
2021Establishment of a novel human iPSC line (YCMi003-A) from a patient with dilated cardiomyopathy carrying genetic variant LMNA p.Asp364His STEM CELL RESEARCH
2021Expanding 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
2021In Silico identification of a common mobile element insertion in exon 4 of RP1 SCIENTIFIC REPORTS
2021Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafishHUMAN MOLECULAR GENETICS
2021Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients SCIENTIFIC REPORTS
2021Chimerism Assay Using Single Nucleotide Polymorphisms Adjacent and in Linkage-Disequilibrium Enables Sensitive Disease Relapse Monitoring after Hematopoietic Stem-Cell TransplantationCLINICAL CHEMISTRY
2021Impact of maternal engrafted cytomegalovirus-specific CD8 + T cells in a patient with severe combined immunodeficiency CLINICAL & TRANSLATIONAL IMMUNOLOGY
2021Concomitant Diagnosis of Primary Bone Marrow B-Cell Non-Hodgkin Lymphoma and Essential Thrombocythemia: A Case Report ANNALS OF LABORATORY MEDICINE
2021Clinical characteristics of KCNQ2 encephalopathyBRAIN & DEVELOPMENT
2020Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population Endocrinology and Metabolism (대한내분비학회지)
2020Fusobacterium nucleatum in biopsied tissues from colorectal cancer patients and alcohol consumption in Korea SCIENTIFIC REPORTS
2020Analytical validation of the droplet digital PCR assay for diagnosis of spinal muscular atrophyCLINICA CHIMICA ACTA
2020A Novel KPC Variant KPC-55 in Klebsiella pneumoniae ST307 of Reinforced Meropenem-Hydrolyzing Activity FRONTIERS IN MICROBIOLOGY
2020Beneficial Chromosomal Integration of the Genes for CTX-M Extended-Spectrum β-Lactamase in Klebsiella pneumoniae for Stable Propagation MSYSTEMS
2020Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma HAEMATOLOGICA
2020Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study SCIENTIFIC REPORTS
2020Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemiaSCIENTIFIC REPORTS
2020Genetic diagnosis and clinical characteristics by etiological classification in early-onset epileptic encephalopathy with burst suppression patternEPILEPSY RESEARCH
2020Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathyBRAIN & DEVELOPMENT
2020Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations FRONTIERS IN NEUROLOGY
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
2020Newborn hereditary elliptocytosis confirmed by familial genetic testingINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
2020Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical DevelopmentPEDIATRIC NEUROLOGY
2019Clinical utility of targeted NGS panel with comprehensive bioinformatics analysis for patients with acute lymphoblastic leukemiaLEUKEMIA & LYMPHOMA
2019Genetic and clinical features of SCN8A developmental and epileptic encephalopathyEPILEPSY RESEARCH
2019Proband-Only Clinical Exome Sequencing for Neurodevelopmental DisabilitiesPEDIATRIC NEUROLOGY
2019Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency Scientific Reports
2019Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis BMC Medical Genomics
2019Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy PLoS One
2019Phenotypic and genotypic characterization of Acinetobacter spp. panel strains: A cornerstone to facilitate antimicrobial development FRONTIERS IN MICROBIOLOGY
2019Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neopla는 PLOS ONE
2019The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report BMC MEDICAL GENETICS
2019Clinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic MalignanciesJOURNAL OF MOLECULAR DIAGNOSTICS
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
2018Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단 Journal of the Korean Child Neurology Society
2018SNP-based next-generation sequencing reveals low-level mixed chimerism after allogeneic hematopoietic stem cell transplantation.ANNALS OF HEMATOLOGY
2018Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development. ANNALS OF LABORATORY MEDICINE
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
2018Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathyEPILEPSY RESEARCH
2018Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing BMC MEDICAL GENOMICS
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
2017A Case of Therapy-Related Acute Leukemia With Mixed Phenotype With BCR-ABL1 After Treatment of Diffuse Large B-Cell Lymphoma ANNALS OF LABORATORY MEDICINE
2017Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia ANNALS OF LABORATORY MEDICINE
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
2017Mowat-Wilson syndrome presenting with fever-associated seizuresEPILEPTIC DISORDERS
2017Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus SyndromeJAMA OPHTHALMOLOGY
2017Diagnostic application of clinical exome sequencing in Leber congenital amaurosis MOLECULAR VISION

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