Browsing by Yonsei Author : Lee, Seung-Tae

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Name:
Lee, Seung-Tae [이승태]
orcid http://orcid.org/0000-0003-1047-1415
Department :
College of Medicine (의과대학) - Dept. of Laboratory Medicine (진단검사의학교실)
Scopus ID :
Scopus (22135530900)

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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
2021Low CtBP2 expression is associated with a stem cell-like signature and adverse clinical outcome in childhood B-cell lymphoblastic leukemiaLEUKEMIA
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
2021DYNC2H1 variants cause Leber congenital amaurosis without syndromic featuresCLINICAL GENETICS
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
2021TUBB3 M323V Syndrome Presents with Infantile Nystagmus GENES
2021Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study SCIENTIFIC REPORTS
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)
2020The proliferative history shapes the DNA methylome of B-cell tumors and predicts clinical outcome NATURE CANCER
2020SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization HUMAN MOLECULAR GENETICS
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
2020Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma HAEMATOLOGICA
2020Guidelines for Laboratory Diagnosis of Coronavirus Disease 2019 (COVID-19) in Korea ANNALS OF LABORATORY MEDICINE
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 Significance of Revised Banff Criteria in the Diagnosis of Antibody-Mediated Rejection TRANSPLANTATION PROCEEDINGS
2019Missed Heterozygous Deletion in Study of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome JAMA OPHTHALMOLOGY
2019Trends in contralateral prophylactic mastectomy rate according to clinicopathologic and socioeconomic status ANNALS OF SURGICAL TREATMENT AND RESEARCH
2019Clinical utility of targeted NGS panel with comprehensive bioinformatics analysis for patients with acute lymphoblastic leukemiaLEUKEMIA & LYMPHOMA
2019Mutant Thr95Ile Transthyretin-Related Cardiac Amyloidosis With Polyneuropathy CIRCULATION JOURNAL
2019Genetic and clinical features of SCN8A developmental and epileptic encephalopathyEPILEPSY RESEARCH
2019Proband-Only Clinical Exome Sequencing for Neurodevelopmental DisabilitiesPEDIATRIC NEUROLOGY
2019Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndromeOphthalmic Genetics
2019진단상의 어려움: 전신성 자가면역 질환의 증상을 모방하는 원발성 골수 광범위큰B세포림프종 진단 Laboratory Medicine Online
2019Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency Scientific Reports
2019A Somatic p.Phe29del Mutation of Connexin 26 (GJB2) Manifesting as Acantholytic Dyskeratotic Epidermal NevusJAMA Dermatology
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
2019A Child With Lymphangioma Due to Somatic Mutation in PIK3CA Successfully Treated With EverolimusPEDIATRIC NEUROLOGY
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
2018Distinct Clinical Courses of Epithelial Ovarian Cancer with Mutations in BRCA1 5' and 3' ExonsAnticancer Research
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
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