- How I Treat Primary Immune Deficiencies with Hematopoietic Stem Cell Transplantation
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Kook H, Kim B, Baek HJ
- KMID: 2534761
- Clin Pediatr Hematol Oncol.
- 2022 Oct;29(2):35-43.
- doi: 10.15264/cpho.2022.29.2.35
Primary immune deficiencies (PID), or more recently, inborn errors of immunity (IEI), resulting from genetic defects of the immune system may present with increased susceptibility to infections, persistent inflammation, and... -
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- Next generation sequencing-based salivary biomarkers in oral squamous cell carcinoma
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Sodnom-Ish B, Eo MY, Myoung H, Lee JH, Kim SM
- KMID: 2526805
- J Korean Assoc Oral Maxillofac Surg.
- 2022 Feb;48(1):3-12.
- doi: 10.5125/jkaoms.2022.48.1.3
Selection of potential disease-specific biomarkers from saliva or epithelial tissues through next generation sequencing (NGS)-based protein studies has recently become possible. The early diagnosis of oral squamous cell carcinoma (OSCC)... -
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- Novel Drug Screening Platform: Tumor Organoid
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Maeng JE, Seo HY, Kim SC, Ku JL
- KMID: 2522024
- Korean J Pancreas Biliary Tract.
- 2021 Oct;26(4):233-240.
- doi: 10.15279/kpba.2021.26.4.233
Pancreatic ductal adenocarcinoma (PDAC) is known to be one of the most lethal cancers among all cancer types, with a relative 5-year survival rate of less than 8%. Currently, surgery... -
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- Pelizaeus-Merzbacher Disease with PLP1 Exon 1 Duplication, Previously Misdiagnosed as Cerebral Palsy: a Case Report
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Lee SJ, Kim TY, Hong S, Byun J, Cho SR
- KMID: 2525686
- Brain Neurorehabil.
- 2021 Jul;14(2):e20.
- doi: 10.12786/bn.2021.14.e20
Pelizaeus-Merzbacher disease (PMD) is a X-linked recessive disorder with dysmyelination in central nervous system caused by proteolipid protein 1 (PLP1) gene mutation. We report a case of PMD with PLP1... -
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- Update on Genetic Study of Vestibular Disorder
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Choi JH
- KMID: 2516818
- Res Vestib Sci.
- 2021 Jun;20(2):37-44.
- doi: 10.21790/rvs.2021.20.2.37
The wide availability of next-generation sequencing has enabled a rapid progress in the discovery of genetic variants associated with many disorders. However, the contribution of genetic factors in vestibular disorders... -
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- A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing
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Suh Ya, Sohn YB, Park MS, Lee JH
- KMID: 2516491
- Neonatal Med.
- 2021 May;28(2):89-93.
- doi: 10.5385/nm.2021.28.2.89
Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy... -
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- Leukemic stem cell phenotype is associated with mutational profile in acute myeloid leukemia
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Han H, Byun JM, Shin DY, Yoon SS, Koh Y, Hong J, Kim I, Lee C, Yoo H, Yun H, Kim MJ, Cho SI, Seong MW, Park SS
- KMID: 2513751
- Korean J Intern Med.
- 2021 Mar;36(2):401-412.
- doi: 10.3904/kjim.2020.014
Background/Aims: Understanding leukemic stem cell (LSC) is important for acute myeloid leukemia (AML) treatment. However, association of LSC with patient prognosis and genetic information in AML patients is unclear. Methods: Here... -
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- Status of Next-Generation Sequencing-Based Genetic Diagnosis in Hematologic Malignancies in Korea (2017-2018)
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Kim J, Lee JY, Huh J, Nam MH, Kim M, Cho YU, Kong SY, Lee ST, Kim IS
- KMID: 2525777
- Lab Med Online.
- 2021 Jan;11(1):25-31.
- doi: 10.47429/lmo.2021.11.1.25
Background: The aim of this study was to investigate the status of next generation sequencing (NGS)-based genetic diagnosis in hematologic malignancies in Korea in 2017 and 2018. Methods: A structured questionnaire... -
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- Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary center
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Cho A, Kim SY, Lee JS, Lim BC, Kim H, Hwang H, Chae JH
- KMID: 2509989
- J Genet Med.
- 2020 Dec;17(2):73-78.
- doi: 10.5734/JGM.2020.17.2.73
Purpose: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. This study aims to provide the clue for early diagnosis and... -
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- Minimal residual disease in acute lymphoblastic leukemia: technical aspects and implications for clinical interpretation
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Kim IS
- KMID: 2504738
- Blood Res.
- 2020 Jul;55(S1):S19-S26.
- doi: 10.5045/br.2020.S004
Minimal residual disease (MRD) monitoring has proven to be one of the fundamental independent prognostic factors for patients with acute lymphoblastic leukemia (ALL). Sequential monitoring of MRD using sensitive and... -
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- The molecular pathophysiology of vascular anomalies: Genomic research
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Kim JS, Hwang SK, Chung HY
- KMID: 2501165
- Arch Plast Surg.
- 2020 May;47(3):203-208.
- doi: 10.5999/aps.2020.00591
Vascular anomalies are congenital localized abnormalities that result from improper development and maintenance of the vasculature. The lesions of vascular anomalies vary in location, type, and clinical severity of the... -
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- Accelerating next generation sequencing data analysis: an evaluation of optimized best practices for Genome Analysis Toolkit algorithms
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Franke KR, Crowgey EL
- KMID: 2501330
- Genomics Inform.
- 2020 Mar;18(1):e10.
- doi: 10.5808/GI.2020.18.1.e10
Advancements in next generation sequencing (NGS) technologies have significantly increased the translational use of genomics data in the medical field as well as the demand for computational infrastructure capable processing... -
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- Characteristics of Faecal Microbiota in Korean Patients with Clostridioides difficile-associated Diarrhea
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Jeon YD, Ann HW, Lee WJ, Kim JH, Seong H, Kim JH, Ahn JY, Jeong SJ, Ku NS, Yeom JS, Yong D, Lee K, Choi JY
- KMID: 2466469
- Infect Chemother.
- 2019 Dec;51(4):365-375.
- doi: 10.3947/ic.2019.51.4.365
BACKGROUND: The intestinal microbiota plays an important role in the pathogenesis of Clostridioides difficile-associated diarrhea, and regional and racial characteristics influence the microbiome composition and diversity. We investigated the intestinal... -
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- Application of the Whole Genome-Based Bacterial Identification System, TrueBac ID, Using Clinical Isolates That Were Not Identified With Three Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS) Systems
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Ha SM, Kim CK, Roh J, Byun JH, Yang SJ, Choi SB, Chun J, Yong D
- KMID: 2450947
- Ann Lab Med.
- 2019 Nov;39(6):530-536.
- doi: 10.3343/alm.2019.39.6.530
BACKGROUND: Next-generation sequencing is increasingly used for taxonomic identification of pathogenic bacterial isolates. We evaluated the performance of a newly introduced whole genome-based bacterial identification system, TrueBac ID (ChunLab Inc.,... -
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- Integrating a Next Generation Sequencing Panel into Clinical Practice in Ovarian Cancer
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Lee YJ, Kim D, Kim HS, Na K, Lee JY, Nam EJ, Kim SW, Kim S, Kim YT
- KMID: 2459144
- Yonsei Med J.
- 2019 Oct;60(10):914-923.
- doi: 10.3349/ymj.2019.60.10.914
PURPOSE: Few efforts have been made to integrate a next generation sequencing (NGS) panel into standard clinical treatment of ovarian cancer. The aim of this study was to investigate the... -
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- The difference of detection rate of avian influenza virus in the wild bird surveillance using various methods
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Kim GS, Kim TS, Son JS, Lai VD, Park JE, Wang SJ, Jheong WH, Mo IP
- KMID: 2464102
- J Vet Sci.
- 2019 Sep;20(5):e56.
- doi: 10.4142/jvs.2019.20.e56
Korea is located within the East Asian-Australian flyway of wild migratory birds during the fall and winter seasons. Consequently, the likelihood of introduction of numerous subtypes and pathotypes of the... -
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- Genetic regulation of linear growth
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Yue S, Whalen P, Jee YH
- KMID: 2447370
- Ann Pediatr Endocrinol Metab.
- 2019 Mar;24(1):2-14.
- doi: 10.6065/apem.2019.24.1.2
Linear growth occurs at the growth plate. Therefore, genetic defects that interfere with the normal function of the growth plate can cause linear growth disorders. Many genetic causes of growth... -
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- Effect of Substrate Topography and Chemistry on Human Mesenchymal Stem Cell Markers: A Transcriptome Study
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Zhang B, Kasoju N, Li Q, Ma J, Yang A, Cui Z, Wang H, Ye H
- KMID: 2447227
- Int J Stem Cells.
- 2019 Mar;12(1):84-94.
- doi: 10.15283/ijsc18102
BACKGROUND AND OBJECTIVES: The International Society for Cellular Therapy (ISCT) proposed a set of minimal markers for identifying human mesenchymal stromal cells (hMSCs) in 2007. Since then, with the growing... -
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- Next generation sequencing and anti-cancer therapy
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Sohn J
- KMID: 2438372
- J Korean Med Assoc.
- 2019 Feb;62(2):119-129.
- doi: 10.5124/jkma.2019.62.2.119
Over the last two decades, the systemic treatment of cancer has evolved from cytotoxic chemotherapy to targeted therapy and now immunotherapy. Next-generation sequencing (NGS) is entering clinical applications for cancer... -
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- Landscape of Actionable Genetic Alterations Profiled from 1,071 Tumor Samples in Korean Cancer Patients
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Lee SH, Lee B, Shim JH, Lee KW, Yun JW, Kim SY, Kim TY, Kim YH, Ko YH, Chung HC, Yu CS, Lee J, Rha SY, Kim TW, Jung KH, Im SA, Moon HG, Cho S, Kang JH, Kim J, Kim SK, Ryu HS, Ha SY, Kim JI, Chung YJ, Kim C, Kim HL, Park WY, Noh DY, Park K
- KMID: 2437614
- Cancer Res Treat.
- 2019 Jan;51(1):211-222.
- doi: 10.4143/crt.2018.132
PURPOSE: With the emergence of next-generation sequencing (NGS) technology, profiling a wide range of genomic alterations has become a possibility resulting in improved implementation of targeted cancer therapy. In Asian... -
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