Skip Navigation
Skip to contents
Results by Year

View Wide

Filter

ARTICLE TYPE

more+
SELECT FILTER
 
Close

PUBLICATION DATE

77 results
Display

Performance Evaluation of BRCA1/2 Genetic Test Using Next-Generation Sequencing Based on Target Capture Method

Kim A, Kim JH, Seo SH, Lee S, Lee W, Chun S

Background: BRCA1 and BRCA2 pathogenic variants are important genetic factors associated with cancers and biomarkers of breast and ovarian cancer. Although Sanger sequencing is regarded as the gold standard...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A genetic approach to comprehend the complex and dynamic event of floral development: a review

Mohanty JN, Sahoo S, Mishra P

The concepts of phylogeny and floral genetics play a crucial role in understanding the origin and diversification of flowers in angiosperms. Angiosperms evolved a great diversity of ways to display...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Lymphoproliferative disorder involving body fluid: diagnostic approaches and roles of ancillary studies

Koh J, Shin SA, Lee JA, Jeon YK

Lymphocyte-rich effusions represent benign reactive process or neoplastic condition. Involvement of lymphoproliferative disease in body cavity is not uncommon, and it often causes diagnostic challenge. In this review, we suggest...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A Novel Germline Mutation in DDX41 Predisposed to Myelodysplasia/Acute Myeloid Leukemia

Kwak MS, Jeong IH, Kim SH, Kim N

Germline DDX41lesions indicate a hereditary myelodysplastic syndrome and acute myeloid leukemia (MDS/AML). Canonical somatic mutations in this gene often coincide as a second hit with germline DDX41mutations. We report a...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Guidelines for Genetic Counseling and Reporting of Cancer Genetic Test Results: Genetic Test for Hereditary Cancer-predisposing Syndrome Using Next-generation Sequencing

Kim DH, Kim N, Kong SY

Genetic counseling and reporting on cancer genetic test results using next-generation sequencing (NGS) are practiced in various ways in different Korean genetic laboratories. Therefore, the Korean Society for Genetic Diagnostics...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Genome characterization and mutation analysis of human influenza A virus in Thailand

Rattanaburi S, Sawaswong V, Nimsamer P, Mayuramart O, Sivapornnukul P, Khamwut A, Chanchaem P, Kongnomnan K, Suntronwong N, Poovorawan Y, Payungporn S

The influenza A viruses have high mutation rates and cause a serious health problem worldwide. Therefore, this study focused on genome characterization of the viruses isolated from Thai patients based...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Identification of unbalanced complex chromosomal rearrangements in IVF-derived embryos during NGS analysis of preimplantation genetic testing: A case report

Yu EJ, Kim MJ, Park EA, Hong YS, Park SO, Park SH, Lee YB, Yoon TK, Kang IS

Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Detection of ASXL1 Codon 646 Variant Using Amplicon-Based Next-Generation Sequencing

Kim M, Kim NY, Hong S, Lee J, Cho Y, Kim HS, Kang HJ, Lee YK

Background: The ASXL1 codon 646 variant is the most common ASXL1 variant that negatively impacts the prognoses of patients with myeloid malignancies, particularly those with myelodysplastic syndromes and acute myeloid...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India

Holla VV, Neeraja K, Stezin A, Prasad S, Surisetti BK, Netravathi M, Kamble N, Yadav R, Pal PK

Objective With the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES)...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
De novo HCN1 Mutation Identified by Next-Generation Sequencing in a Patient with Early Infantile Epileptic Encephalopathy: Case Report

Jang H, Won D, Shin S, Lee ST, Choi JR, Lee JS

Early infantile epileptic encephalopathy (EIEE) is a group of brain disorders characterized by spontaneous seizures occurring at an early age. EIEE is caused by mutations in various genes, including HCN1....
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Identification of a de novo ANK1 Variant in a Patient with Hereditary Spherocytosis on Multi-gene Panel Testing

Yoon SJ, Cho EH, Woo HY, Park H, Jung HL, Kwon MJ

Hereditary spherocytosis (HS) is caused by defects in red blood cell membrane components encoded by SPTA1, SPTB, ANK1, SLC4A1, and EPB42. The low sensitivity and specificity of conventional tests such...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
JAK2V617F-Positive Acute Myeloid Leukemia: Clinicopathological Features of Two Cases

Lee Y, Lee JY, Lee JO, Bang SM, Hwang SM

Although the JAK2V617F mutation is a common genetic basis for the BCR-ABL1-negative myeloproliferative neoplasm (MPN), it is very rarely observed in acute myeloid leukemia (AML) without antecedent MPN. While JAK2V617F...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Recommendations for the Use of Next-Generation Sequencing and the Molecular Tumor Board for Patients with Advanced Cancer: A Report from KSMO and KCSG Precision Medicine Networking Group

Yoon S, Kim M, Hong YS, Kim HS, Kim ST, Kim J, Yun H, Yoo C, Ahn HK, Kim HS, Lee IH, Kim IH, Park I, Jeong JH, Cheon J, Kim JW, Yun J, Lim SM, Cha Y, Jang SJ, Zang DY, Kim TW, Kang JH, Kim JH

Next-generation sequencing (NGS) is becoming essential in the fields of precision oncology. With implementation of NGS in daily clinic, the needs for continued education, facilitated interpretation of NGS results and...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Detection of TERT Promoter Mutations Using Targeted Next-Generation Sequencing: Overcoming GC Bias through Trial and Error

Lee H, Lee B, Kim DG, Cho YA, Kim JS, Suh YL

Purpose Detection of telomerase reverse transcriptase (TERT) promoter mutations is a crucial process in the integrated diagnosis of glioblastomas. However, the TERT promoter region is difficult to amplify because of...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Development of an RNA sequencing panel to detect gene fusions in thyroid cancer

Kim D, Jung SH, Chung YJ

In addition to mutations and copy number alterations, gene fusions are commonly identified in cancers. In thyroid cancer, fusions of important cancer-related genes have been commonly reported; however, extant panels...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Biodiversity and Enzyme Activity of Marine Fungi with 28 New Records from the Tropical Coastal Ecosystems in Vietnam

Pham TT, Dinh KV, Nguyen VD

The coastal marine ecosystems of Vietnam are one of the global biodiversity hotspots, but the biodiversity of marine fungi is not well known. To fill this major gap of knowledge,...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Next-generation sequencing for the genetic characterization of Maedi/Visna virus isolated from the northwest of China

Zhao L, Zhang L, Shi X, Duan X, Li H, Liu S

Background: Maedi/Visna virus (MVV) is a contagious viral pathogen that causes considerable economic losses to the sheep industry worldwide. Objectives: In China, MVV has been detected in several regions, but its...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Evaluation of a Targeted Next-generation Sequencing Assay for BRCA Mutation Screening in Clinical Samples

Kim MJ, Song BJ, Kim SE, Lee CS, Im JE, Oh E, Lee K, Cho SI, Kim KJ, Park SS, Seong MW

Background: While several factors contribute to breast cancer pathogenesis, hereditary breast cancer results from a genetic predisposition. Genes associated with hereditary breast cancer may be divided into high- and low-penetrance genes...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Modern diagnostic capabilities of neonatal screening for primary immunodeficiencies in newborns

Khalturina EO, Degtyareva ND, Bairashevskaia AV, Mulenkova AV, Degtyareva AV

Population screening of newborns is an extremely important and informative diagnostic approach that allows early identification of babies who are predisposed to the development of a number of serious diseases....
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Clinical Genetic Testing in Children with Kidney Disease

Kang E, Lee BH

Chronic kidney disease, the presence of structural and functional abnormalities in the kidneys, is associated with a lower quality of life and increased morbidity and mortality in children. Genetic etiologies...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close

Go to Top

Copyright © 2023 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr