Browsing by Yonsei Author : Lee, Seung-Tae

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

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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
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
2019Clinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic MalignanciesJOURNAL OF MOLECULAR DIAGNOSTICS
2019Missed Heterozygous Deletion in Study of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome JAMA OPHTHALMOLOGY
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
2019The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report BMC MEDICAL GENETICS
2019Mutant Thr95Ile Transthyretin-Related Cardiac Amyloidosis With Polyneuropathy CIRCULATION JOURNAL
2019Trends in contralateral prophylactic mastectomy rate according to clinicopathologic and socioeconomic status ANNALS OF SURGICAL TREATMENT AND RESEARCH
2019Clinical Significance of Revised Banff Criteria in the Diagnosis of Antibody-Mediated Rejection TRANSPLANTATION PROCEEDINGS
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
2019Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neopla는 PLOS ONE
2019A Child With Lymphangioma Due to Somatic Mutation in PIK3CA Successfully Treated With EverolimusPEDIATRIC NEUROLOGY
2019Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy PLoS One
2019Clinical utility of targeted NGS panel with comprehensive bioinformatics analysis for patients with acute lymphoblastic leukemiaLEUKEMIA & LYMPHOMA
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)
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
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
2018Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer BMC CANCER
2018Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations JOURNAL OF CLINICAL NEUROLOGY
2018Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-Gene Panels: Beyond BRCA1/2 CANCER RESEARCH AND TREATMENT
2018Distinct Clinical Courses of Epithelial Ovarian Cancer with Mutations in BRCA1 5' and 3' ExonsAnticancer Research
2018The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy FRONTIERS IN 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
2018Difference in Risk of Breast and Ovarian Cancer According to Putative Functional Domain Regions in Korean BRCA1/2 Mutation Carriers.CLINICAL BREAST CANCER
2017Validation and Optimization of the Ion Torrent S5 XL Sequencer and Oncomine Workflow for BRCA1 and BRCA2 Genetic Testing ONCOTARGET
2017Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients CANCER RESEARCH AND TREATMENT
2017BRCA1 and BRCA2 mutation predictions using the BRCAPRO and Myriad models in Korean ovarian cancer patientsGYNECOLOGIC ONCOLOGY
2017Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia ANNALS OF LABORATORY MEDICINE
2017Mowat-Wilson syndrome presenting with fever-associated seizuresEPILEPTIC DISORDERS
2017Telomere length in alcohol dependence: A role for impulsive choice and childhood maltreatmentPSYCHONEUROENDOCRINOLOGY
2017KCNT1 돌연변이가 확인된 영아 이동성 부분 발작뇌전증 환아에서의 Quinidine 치료를 시도한 영아 1예 Journal of the Korean Child Neurology Society (대한소아신경학회지)
2017The effect of trauma and PTSD on telomere length: An exploratory study in people exposed to combat trauma SCIENTIFIC REPORTS
2017Diagnostic application of clinical exome sequencing in Leber congenital amaurosis MOLECULAR VISION
2017Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus SyndromeJAMA OPHTHALMOLOGY
2017Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls CANCER RESEARCH AND TREATMENT
2016Usefulness of Flow Cytometric Analysis for Detecting Leptomeningeal Diseases in Non-Hodgkin Lymphoma ANNALS OF LABORATORY MEDICINE
2016Genome-wide CpG island methylation and intergenic demethylation propensities vary among different tumor sites NUCLEIC ACIDS RESEARCH
2016Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations ONCOTARGET
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