Search Results - "Won, Dongju"

Klebsiella pneumoniae, a human-dog shuttle organism for the genes of CTX-M ESBL by Yoon, Eun-Jeong, Choi, You Jeong, Won, Dongju, Choi, Jong Rak, Jeong, Seok Hoon

“…Antimicrobials reserved for human medicines are permitted for companion animals and it is important to understand multidrug-resistant pathogens recovered from…”
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Identifying Contact Time Required for Secondary Transmission of Clostridioides difficile Infections by Using Real-Time Locating System by Kim, Min Hyung, Kim, Jaewoong, Ra, Heejin, Jeong, Sooyeon, Park, Yoon Soo, Won, Dongju, Lee, Hyukmin, Kim, Heejung

“…Considering patient room shortages and prevalence of other communicable diseases, reassessing the isolation of patients with Clostridioides difficile infection…”
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Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations by Kim, Hongkyung, Shim, Yeeun, Lee, Taek Gyu, Won, Dongju, Choi, Jong Rak, Shin, Saeam, Lee, Seung‐Tae

“…Next‐generation sequencing (NGS) facilitates comprehensive molecular analyses that help with diagnosing unsolved disorders. In addition to detecting…”
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Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy by Kim, Se Hee, Seo, Jieun, Kwon, Soon Sung, Teng, Lip‐Yuen, Won, DongJu, Shin, Saeam, Lee, Joon Soo, Lee, Seung‐Tae, Choi, Jong Rak, Kang, Hoon‐Chul

“…Objective We aimed to identify common genes and recurrent causative variants in a large group of Asian patients with different epilepsy syndromes and…”
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In Silico identification of a common mobile element insertion in exon 4 of RP1 by Won, Dongju, Hwang, Joo-Yeon, Shim, Yeeun, Byeon, Suk Ho, Lee, Junwon, Lee, Christopher Seungkyu, Kim, Min, Lim, Hyun Taek, Choi, Jong Rak, Lee, Seung-Tae, Han, Jinu

“…Mobile element insertions (MEIs) typically exceed the read lengths of short-read sequencing technologies and are therefore frequently missed. Recently, a…”
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Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy by Kim, Borahm, Won, Dongju, Lee, Seung-Tae, Choi, Jong Rak

“…PPM1D (Protein phosphatase magnesium-dependent 1δ) is known as a damage response regulator, a part of the p53 negative feedback loop. Truncating mutations of…”
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Utility of Plasma Microbial Cell-Free DNA Whole-Genome Sequencing for Diagnosis of Invasive Aspergillosis in Patients With Hematologic Malignancy or COVID-19 by Lee, Ki Hyun, Won, Dongju, Kim, Jinnam, Lee, Jung Ah, Kim, Chang Hyup, Kim, Jung Ho, Jeong, Su Jin, Ku, Nam Su, Choi, Jun Yong, Yeom, Joon-Sup, Cho, Hyunsoo, Chung, Haerim, Cheong, June-Won, Lee, Seung-Tae, Jang, Ji Eun, Shin, Saeam, Ahn, Jin Young

“…Whole-genome sequencing of plasma microbial Aspergillus cell-free DNA may be a helpful noninvasive diagnostic approach for patients with hematologic…”
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Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1 by Jung, Joonho, Jang, Seung Hyun, Won, Dongju, Gee, Heon Yung, Choi, Jae Young, Jung, Jinsei

“…Mutations in Wolfram syndrome 1 ( ) cause Wolfram syndrome and autosomal dominant non-syndromic hearing loss DFNA6/14/38. To date, more than 300 pathogenic…”
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Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing by Park, Hye-Sun, Lee, Yeon Hee, Hong, Namki, Won, Dongju, Rhee, Yumie

“…Primary hyperparathyroidism (PHPT) is characterized by overproduction of parathyroid hormone and subsequent hypercalcemia. Approximately 10% of PHPT cases are…”
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Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort by Moon, Dabin, Park, Hye Won, Surl, Dongheon, Won, Dongju, Lee, Seung-Tae, Shin, Saeam, Choi, Jong Rak, Han, Jinu

“…In this study, we investigated medically or surgically actionable genes in inherited eye disease, based on clinical phenotype and genomic data. This…”
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Prevalence Estimation of the PALB2 Germline Variant in East Asians and Koreans through Population Database Analysis by Park, Jong Eun, Kang, Min-Chae, Lee, Taeheon, Cho, Eun Hye, Jang, Mi-Ae, Won, Dongju, Park, Boyoung, Ki, Chang-Seok, Kong, Sun-Young

“…is a tumor suppressor gene. Heterozygous germline pathogenic variants of significantly increase the lifetime risk of breast cancer and moderately increase the…”
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Histopathologic image–based deep learning classifier for predicting platinum-based treatment responses in high-grade serous ovarian cancer by Ahn, Byungsoo, Moon, Damin, Kim, Hyun-Soo, Lee, Chung, Cho, Nam Hoon, Choi, Heung-Kook, Kim, Dongmin, Lee, Jung-Yun, Nam, Eun Ji, Won, Dongju, An, Hee Jung, Kwon, Sun Young, Shin, Su-Jin, Jung, Hye Ra, Kwon, Dohee, Park, Heejung, Kim, Milim, Cha, Yoon Jin, Park, Hyunjin, Lee, Yangkyu, Noh, Songmi, Lee, Yong-Moon, Choi, Sung-Eun, Kim, Ji Min, Sung, Sun Hee, Park, Eunhyang

“…Platinum-based chemotherapy is the cornerstone treatment for female high-grade serous ovarian carcinoma (HGSOC), but choosing an appropriate treatment for…”
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Genetic diagnosis of inborn errors of immunity using clinical exome sequencing by Kwon, Soon Sung, Cho, Youn Keong, Hahn, Seungmin, Oh, Jiyoung, Won, Dongju, Shin, Saeam, Kang, Ji-Man, Ahn, Jong Gyun, Lee, Seung-Tae, Choi, Jong Rak

“…Inborn errors of immunity (IEI) include a variety of heterogeneous genetic disorders in which defects in the immune system lead to an increased susceptibility…”
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Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression by Bang, Sungun, Won, Dongju, Shin, Saeam, Cho, Kang Su, Park, Jae Won, Lee, Jongsoo, Choi, Young Deuk, Kang, Suwan, Lee, Seung-Tae, Choi, Jong Rak, Han, Hyunho

“…The positivity rate of circulating tumor DNA (ctDNA) next-generation sequencing (NGS) varies among patients with metastatic prostate cancer (mPC), complicating…”
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Clinical characteristics of KCNQ2 encephalopathy by Kim, Hyo Jeong, Yang, Donghwa, Kim, Se Hee, Won, Dongju, Kim, Heung Dong, Lee, Joon Soo, Choi, Jong Rak, Lee, Seung-Tae, Kang, Hoon-Chul

“…KCNQ2 mutations are associated with benign familial neonatal epilepsy (BFNE) or developmental and epileptic encephalopathy (DEE). In this study, we aimed to…”
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Corrigendum: Genetic diagnosis of inborn errors of immunity using clinical exome sequencing by Kwon, Soon Sung, Cho, Youn Keong, Hahn, Seungmin, Oh, Jiyoung, Won, Dongju, Shin, Saeam, Kang, Ji-Man, Ahn, Jong Gyun, Lee, Seung-Tae, Choi, Jong Rak

“…[This corrects the article DOI: 10.3389/fimmu.2023.1178582.]…”
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Beneficial Chromosomal Integration of the Genes for CTX-M Extended-Spectrum β-Lactamase in Klebsiella pneumoniae for Stable Propagation by Yoon, Eun-Jeong, Gwon, Bareum, Liu, Changseung, Kim, Dokyun, Won, Dongju, Park, Sung Gyun, Choi, Jong Rak, Jeong, Seok Hoon

“…Dominant F-type plasmids harboring the gene have been pointed out to be responsible for the dissemination of the CTX-M extended-spectrum-β-lactamase…”
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Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis by Kim, Borahm, Won, Dongju, Jang, Mi, Kim, Hoguen, Choi, Jong Rak, Kim, Tae Il, Lee, Seung-Tae

“…Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumor characterized by numerous adenomatous colonic polyps that often lead to colon…”
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Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations by Won, Dongju, Kim, Se Hee, Kim, Borahm, Lee, Seung-Tae, Kang, Hoon-Chul, Choi, Jong Rak

“…Genetic diagnosis of patients with neurodevelopmental disorders is imperative and a standard clinical practice. Considering the continuous accumulation of data…”
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TUBB3 M323V Syndrome Presents with Infantile Nystagmus by Jin, Soohwa, Park, Sung-Eun, Won, Dongju, Lee, Seung-Tae, Han, Sueng-Han, Han, Jinu

“…Variants in the gene, one of the tubulin-encoding genes, are known to cause congenital fibrosis of the extraocular muscles type 3 and/or malformations of…”
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