Browsing "1. Journal Papers" by Author : 3234

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Showing results 37 to 96 of 137

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Issue DateTitleJournal Title
2018Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development. ANNALS OF LABORATORY MEDICINE
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
2023Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental DisordersJOURNAL OF MOLECULAR DIAGNOSTICS
2018Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-Gene Panels: Beyond BRCA1/2 CANCER RESEARCH AND TREATMENT
2017Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia ANNALS OF LABORATORY MEDICINE
2016Detection of MYD88 L265P in patients with lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia and other B-cell non-Hodgkin lymphomas BLOOD RESEARCH
2020Detection of recurrent, rare, and novel gene fusions in patients with acute leukemia using next-generation sequencing approachesHEMATOLOGICAL ONCOLOGY
2023Development and validation of sensitive BCR::ABL1 fusion gene quantitation using next-generation sequencing CANCER CELL INTERNATIONAL
2023Development of a Next-generation Sequencing-based Gene Panel Test to Detect Measurable Residual Disease in Acute Myeloid Leukemi ANNALS OF LABORATORY MEDICINE
2017Diagnostic application of clinical exome sequencing in Leber congenital amaurosis MOLECULAR VISION
2018Diagnostic exome sequencing을 통한 KBG 증후군의 조기 진단 Journal of the Korean Child Neurology Society
2023Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia BMC MEDICAL GENOMICS
2018Difference in Risk of Breast and Ovarian Cancer According to Putative Functional Domain Regions in Korean BRCA1/2 Mutation Carriers.CLINICAL BREAST CANCER
2022Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation HUMAN GENETICS
2021Disparate treatment outcomes according to presence of pathogenic mutations in West syndromeEPILEPSIA
2018Distinct Clinical Courses of Epithelial Ovarian Cancer with Mutations in BRCA1 5' and 3' ExonsAnticancer Research
2021DYNC2H1 variants cause Leber congenital amaurosis without syndromic featuresCLINICAL GENETICS
2018Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations JOURNAL OF CLINICAL NEUROLOGY
2018Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing BMC MEDICAL GENOMICS
2021Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafishHUMAN MOLECULAR 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
2016Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variantsBREAST CANCER RESEARCH AND TREATMENT
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
2023Exploring the Characteristics of Circulating Tumor DNA in Pt1a Clear Cell Renal Cell Carcinoma: A Pilot Study CANCERS
2022Feasibility and clinical applicability of genomic profiling based on cervical smear samples in patients with endometrial cancer FRONTIERS IN ONCOLOGY
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
2016Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia ANNALS OF LABORATORY MEDICINE
2020Fusobacterium nucleatum in biopsied tissues from colorectal cancer patients and alcohol consumption in Korea SCIENTIFIC REPORTS
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
2020Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population Endocrinology and Metabolism (대한내분비학회지)
2019Genetic and clinical features of SCN8A developmental and epileptic encephalopathyEPILEPSY RESEARCH
2020Genetic diagnosis and clinical characteristics by etiological classification in early-onset epileptic encephalopathy with burst suppression patternEPILEPSY RESEARCH
2023Genetic diagnosis of inborn errors of immunity using clinical exome sequencing FRONTIERS IN IMMUNOLOGY
2020Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study SCIENTIFIC REPORTS
2022Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy FRONTIERS IN NEUROLOGY
2016Genome-wide CpG island methylation and intergenic demethylation propensities vary among different tumor sites NUCLEIC ACIDS RESEARCH
2020Guidelines for Laboratory Diagnosis of Coronavirus Disease 2019 (COVID-19) in Korea ANNALS OF LABORATORY MEDICINE
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
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
2022Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer CANCER RESEARCH AND TREATMENT
2021In Silico identification of a common mobile element insertion in exon 4 of RP1 SCIENTIFIC REPORTS
2023In-depth circulating tumor DNA sequencing for prognostication and monitoring in natural killer/T-cell lymphomas FRONTIERS IN ONCOLOGY
2023Investigation of PARP Inhibitor Resistance Based on Serially Collected Circulating Tumor DNA in Patients With BRCA-Mutated Ovarian CancerCLINICAL CANCER RESEARCH
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
2017KCNT1 돌연변이가 확인된 영아 이동성 부분 발작뇌전증 환아에서의 Quinidine 치료를 시도한 영아 1예 Journal of the Korean Child Neurology Society
2021Low CtBP2 expression is associated with a stem cell-like signature and adverse clinical outcome in childhood B-cell lymphoblastic leukemiaLEUKEMIA
2022Metabolic subtype reveals potential therapeutic vulnerability in acute promyelocytic leukaemia CLINICAL AND TRANSLATIONAL MEDICINE
2019Missed Heterozygous Deletion in Study of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome JAMA OPHTHALMOLOGY
2017Mowat-Wilson syndrome presenting with fever-associated seizuresEPILEPTIC DISORDERS
2019Mutant Thr95Ile Transthyretin-Related Cardiac Amyloidosis With Polyneuropathy CIRCULATION JOURNAL
2016Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations ONCOTARGET
2020Newborn hereditary elliptocytosis confirmed by familial genetic testingINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
2020Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy FRONTIERS IN PHARMACOLOGY
2023Next-Generation Sequencing of Vitreoretinal Lymphoma by Vitreous Liquid Biopsy: Diagnostic Potential and Genotype/Phenotype Correlation INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2019Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis BMC Medical Genomics
2022Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
2015NOTCH2 missplicing can occur in relation to apoptosisBLOOD
2022Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample CANCER CELL INTERNATIONAL
2022Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort GENES
2020Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia SCIENTIFIC REPORTS

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