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
2022Real-world data on prognostic value of measurable residual disease assessment by fragment analysis or next-generation sequencing in multiple myelomaBRITISH JOURNAL OF HAEMATOLOGY
2022Amplification of the Chromosomal blaCTX-M-14 Gene in Escherichia coli Expanding the Spectrum of Resistance under Antimicrobial Pressure MICROBIOLOGY SPECTRUM
2022Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
2022Cytogenetic testing by fluorescence in situ hybridization is improved by plasma cell sorting in multiple myeloma SCIENTIFIC REPORTS
2022A Single-Center Experience on HLA Typing with 11 Loci Next Generation Sequencing in Korean Patients with Hematologic Disease DIAGNOSTICS
2022조기영아성간질성뇌병증 환자에서 de novo로 확인된 HCN1 유전자 돌연변이 1예 보고 Laboratory Medicine Online
2022Derivation of YCMi005-A, a human-induced pluripotent stem cell line, from a patient with dilated cardiomyopathy carrying missense variant in TPM1 (p. Glu192Lys) STEM CELL RESEARCH
2022Generation 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
2022Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort GENES
2022Ig 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
2021The Role of Ion Channel-Related Genes in Autism Spectrum Disorder: A Study Using Next-Generation Sequencing FRONTIERS IN GENETICS
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
2021Disparate treatment outcomes according to presence of pathogenic mutations in West syndromeEPILEPSIA
2021In Silico identification of a common mobile element insertion in exon 4 of RP1 SCIENTIFIC REPORTS
2021Novel indel mutation in the N gene of SARS-CoV-2 clinical samples that were diagnosed positive in a commercial RT-PCR assayVIRUS RESEARCH
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
2021Corrigendum to 'Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy' [Brain Dev. 42(6) (2020) 438-448]BRAIN & DEVELOPMENT
2020Low-Dose Triple Antihypertensive Combination Therapy in Patients with Hypertension: A Randomized, Double-Blind, Phase II Study DRUG DESIGN DEVELOPMENT AND THERAPY
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
2020The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathyEPILEPTIC DISORDERS
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 features and treatment efficacy in cdkl5 mutation-related epileptic encephalopathy in the infant Annals of Child 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

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