Kim, Manjin
Department
Specialty
Appointment
Genetic counseling , Molecular diagnosis , Molecular genetics
Education / Career
| Article | Consistent count region-copy number variation (CCR-CNV): an expandable and robust tool for clinical diagnosis of copy number variation at the exon level using next-generation sequencing data | ||
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| Announcements | Genetics in Medicine | Date of publication | 2022-03 |
| Co-researcher | Man Jin Kim, Sungyoung Lee, Hongseok Yun, Sung Im Cho, Boram Kim, Jee-Soo Lee, Jong Hee Chae, Choonghyun Sun, Sung Sup Park, Moon-Woo Seong | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/34906491/ | ||
| Article | FMS-like Tyrosine Kinase 3-Internal Tandem Duplication Allele Concentrations Should Be Determined in a Mutation-Type-Specific Manner | ||
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| Announcements | Clinical Chemistry | Date of publication | 2021-03 |
| Co-researcher | Man Jin Kim, Ho Seob Shin, Hyeon Sae Oh, Sung Im Cho, Young-Gon Kim, Jee-Soo Lee, Sung Sup Park, Moon-Woo Seong | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33686396/ | ||
| Article | Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma | ||
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| Announcements | Journal of Medical Genetics | Date of publication | 2020-11 |
| Co-researcher | Jung Hee Kim*, Man Jin Kim*, Sung Hye Kong, Su Jin Kim, Hyein Kang, Chan Soo Shin, Sung Sup Park, Kyu Eun Lee, Moon-Woo Seong | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33219105/ | ||
| Article | Strabismus in chronic progressive external ophthalmoplegia | ||
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| Announcements | Acta Ophthalmologica | Date of publication | 2020-11 |
| Co-researcher | Ji Yeon Kim Hee Kyung Yang Namju Kim Man Jin Kim Sung Im Cho Moon‐Woo Seong Sung Sup Park Jeong‐Min Hwang | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33191655/ | ||
| Article | A case of CHOPS syndrome accompanied with moyamoya disease and systemic vasculopathy | ||
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| Announcements | Brain & Development | Date of publication | 2020-11 |
| Co-researcher | Soo Yeon Kim, Man Jin Kim, Su Jin Kim, Ji Eun Lee, Jong-Hee Chae, Jung Min Ko | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33248856/ | ||
| Article | Evidence of Severe Acute Respiratory Syndrome Coronavirus 2 Reinfection After Recovery from Mild Coronavirus Disease 2019 | ||
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| Announcements | Clinical Infectious Diseases | Date of publication | 2020-11 |
| Co-researcher | Jee-Soo Lee, So Yeon Kim, Taek Soo Kim, Ki Ho Hong, Nam-Hee Ryoo, Jaehyeon Lee, Jae Hyeon Park, Sung Im Cho, Man Jin Kim, Young-Gon Kim, Boram Kim, Ho Seob Shin, Hyeon Sae Oh, Myoung-Seock Seo, Tae-Rin Gwon, Yeonjae Kim, Jun-Sun Park, Bum Sik Chin, Wan Beom Park, Sung Sup Park, Moon-Woo Seong | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33219681/ | ||
| Article | Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases | ||
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| Announcements | European Journal of Human Genetics | Date of publication | 2020-11 |
| Co-researcher | Jee-Soo Lee, Kyung Bok Lee, Han Song, ChoongHyun Sun, Man Jin Kim, Sung Im Cho, Young Kyung Lee, Sung Sup Park, Moon-Woo Seong | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33235377/ | ||
| Article | SnackVar: An Open-Source Software for Sanger Sequencing Analysis Optimized for Clinical Use | ||
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| Announcements | Journal of Molecular Diagnostics | Date of publication | 2020-11 |
| Co-researcher | Young-Gon Kim, Man Jin Kim, Jee-Soo Lee, Jung Ae Lee, Ji Yun Song, Sung Im Cho, Sung-Sup Park, Moon-Woo Seong | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33246077/ | ||
| Article | Novel compound heterozygous ACO2 mutations in an infant with progressive encephalopathy: A newly identified neurometabolic syndrome | ||
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| Announcements | Brain & Development | Date of publication | 2020-10 |
| Co-researcher | Ji Soo Park, Man Jin Kim, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Moon-Woo Seong, Jin Sook Lee, Jong-Hee Chae | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32713659/ | ||
| Article | Hereditary Fructose Intolerance Diagnosed in Adulthood | ||
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| Announcements | Gut and Liver | Date of publication | 2020-10 |
| Co-researcher | Min Soo Kim, Jin Soo Moon, Man Jin Kim, Moon-Woo Seong, Sung Sup Park, Jae Sung Ko | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/33028743/ | ||
| Article | No association between POU4F1, POU4F2, ISL1 polymorphisms and normal-tension glaucoma | ||
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| Announcements | Ophthalmic Genetics | Date of publication | 2020-10 |
| Co-researcher | Jee-Soo Lee, Jin Wook Jeoung, Sohee Oh, Dong Myung Kim, Joo Hyun Ahn, Man Jin Kim, Moon-Woo Seong, Sung Sup Park, Ji Yeon Kim | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32597291/ | ||
| Article | Young-Onset Parkinson's Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7 | ||
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| Announcements | Journal of Movement Disorders | Date of publication | 2020-09 |
| Co-researcher | Dallah Yoo, Ji-Hyun Choi, Jin-Hee Im, Man Jin Kim, Han-Joon Kim, Sung Sup Park, Beomseok Jeon | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32894901/ | ||
| Article | Leukemic stem cell phenotype is associated with mutational profile in acute myeloid leukemia | ||
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| Announcements | Korean Journal of Internal Medicine | Date of publication | 2020-08 |
| Co-researcher | Heejoo Han, Ja Min Byun, Dong-Yeop Shin, Sung-Soo Yoon, Youngil Koh, Junshik Hong, Inho Kim, Chansup Lee, Hyeonjoo Yoo, Hongseok Yun, Man Jin Kim, Sung Im Cho, Moon-Woo Seong, Sung Sup Park | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32811132/ | ||
| Article | Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations | ||
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| Announcements | Orphanet Journal of Rare Diseases | Date of publication | 2020-08 |
| Co-researcher | Hyun Jin Park, Chang Ho Shin, Won Joon Yoo, Tae-Joon Cho, Man Jin Kim, Moon-Woo Seong, Sung Sup Park, Jeong Ho Lee, Nam Suk Sim, Jung Min Ko | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32778138/ | ||
| Article | Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel | ||
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| Announcements | European Journal of Medical Genetics | Date of publication | 2020-06 |
| Co-researcher | Tae Hyeong Kim, Kwang Yeon Kim, Man Jin Kim, Moon-Woo Seong, Sung Sup Park, Jin Soo Moon, Jae Sung Ko | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32244026/ | ||
| Article | Genomic Characterization of TBK1 Duplication in Korean Normal-tension Glaucoma Patients | ||
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| Announcements | Journal of Glaucoma | Date of publication | 2020-05 |
| Co-researcher | Man Jin Kim, Yong Woo Kim, Jin Wook Jeoung, Moon-Woo Seong, Jee-Soo Lee, Dong Myung Kim, Joo Hyun Ahn, Ji Yun Song, Sung Im Cho, Sung Sup Park, Ji Yeon Kim | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32079994/ | ||
| Article | Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease | ||
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| Announcements | Movement Disorders | Date of publication | 2020-05 |
| Co-researcher | Soo Hyun Seo, Albino Bacolla, Dallah Yoo, Yoon Jung Koo, Sung Im Cho, Man Jin Kim, Moon-Woo Seong, Han-Joon Kim, Jong-Min Kim, John A Tainer, Sung Sup Park, Ji Yeon Kim, Beomseok Jeon | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32039503/ | ||
| Article | Lentigo maligna in a patient with xeroderma pigmentosum, variant type: A case report with dermoscopic findings and review of the literature | ||
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| Announcements | Photodermatology Photoimmunology & Photomedicine | Date of publication | 2020-05 |
| Co-researcher | Eunsik Bang, Ye Eun Kim, Jung Min Ko, Man Jin Kim, Sung Sup Park, Moon-Woo Seong, Je-Ho Mun | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32379927/ | ||
| Article | Direct Haplotyping-Based Noninvasive Prenatal Test for Myotonic Dystrophy Type 1 with Large CTG Expansion | ||
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| Announcements | Clinical Chemistry | Date of publication | 2020-04 |
| Co-researcher | Jee-Soo Lee, Kyung Bok Lee, Han Song, ChoongHyun Sun, Man Jin Kim, Sung Im Cho, Young Kyung Lee, Sung Sup Park, Moon-Woo Seong | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/32167563/ | ||
| Article | Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance | ||
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| Announcements | Muscle & Nerve | Date of publication | 2019-12 |
| Co-researcher | Sun Ah Choi, Anna Cho, Soo Yeon Kim, Woo Joong Kim, Young Kyu Shim, Jin Sook Lee, Se Song Jang, Byung Chan Lim, Hunmin Kim, Hee Hwang, Ji Eun Choi, Ki Joong Kim, Man Jin Kim, Moon-Woo Seong, Jong-Hee Chae | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31498906/ | ||
| Article | Pitfalls of ABO Genotyping Based on Targeted Single Nucleotide Variant Analysis Due to a Nondeletional O Allele Lacking c.261delG: First Report of ABO*O.09.01 in Korea | ||
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| Announcements | Annals of Laboratory Medicine | Date of publication | 2019-11 |
| Co-researcher | Dahae Yang, Boram Kim, Da Young Song, Tae Yeul Kim, Man Jin Kim, Sung Im Cho, Hyungsuk Kim, Moon Woo Seong, Sung Sup Park | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31240894/ | ||
| Article | Acute pulmonary thromboembolism caused by factor V Leiden mutation in South Korea: A case report | ||
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| Announcements | Medicine (Baltimore) | Date of publication | 2019-07 |
| Co-researcher | Hun Jee Choe, Koung Jin Suh, Ji Yun Lee, Minyoung Kim, Man Jin Kim, Sung Sup Park, Ji-Won Kim, Se Hyun Kim, Jin Won Kim, Jeong-Ok Lee, Yu Jung Kim, Keun-Wook Lee, Jee Hyun Kim, Soo-Mee Bang, Jong Seok Lee | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31305418/ | ||
| Article | Congenital Analbuminemia in a Korean Male Diagnosed with Single Nucleotide Polymorphism in the ALB Gene: The First Case Reported in Korea | ||
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| Announcements | Yonsei Medical Journal | Date of publication | 2019-07 |
| Co-researcher | Youngji Kim, Ye Seul Yang, Sung Sup Park, Man Jin Kim, Cheol Min Shin, Sung Hee Choi | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31250585/ | ||
| Article | Evaluation of the new Abbott Real-Time EBV assay: fully automated quantification of EBV in whole blood by targeting BLLF1 | ||
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| Announcements | Diagnostic Microbiology and Infectious Disease | Date of publication | 2019-06 |
| Co-researcher | Jee-Soo Lee, Mihye Yoon, Man Jin Kim, Sung Im Cho, Moon-Woo Seong, Sung Sup Park, Ji Yeon Kim | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/30777343/ | ||
| Article | Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases | ||
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| Announcements | Journal of Korean Medical Science | Date of publication | 2019-06 |
| Co-researcher | Min Seok Kim, Kwangsic Joo, Moon Woo Seong, Man Jin Kim, Kyu Hyung Park, Sung Sup Park, Se Joon Woo | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/31144483/ | ||
| Article | Increased Prevalence of Thalassemia in Young People in Korea: Impact of Increasing Immigration | ||
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| Announcements | Annals of Laboratory Medicine | Date of publication | 2019-03 |
| Co-researcher | Hyun Ji Lee, Kyung Hwa Shin, Hyung Hoi Kim, Eu Jeen Yang, Kyung Hee Park, Min Ju Kim, Jeong Ran Kwon, Young Sil Choi, Jun Nyun Kim, Myung Geun Shin, Yong Gon Cho, Sun Jun Kim, Kyeong Hee Kim, Seri Jeong, Seom Gim Kong, Yu Jin Jung, Nayoung Lee, Man Jin Kim, Moon Woo Seong | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/30430775/ | ||
| Article | Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort | ||
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| Announcements | Journal of Medical Genetics | Date of publication | 2018-12 |
| Co-researcher | Jee-Soo Lee, Sohee Oh, Sue Kyung Park, Min-Hyuk Lee, Jong Won Lee, Sung-Won Kim, Byung Ho Son, Dong-Young Noh, Jeong Eon Lee, Hai-Lin Park, Man Jin Kim, Sung Im Cho, Young Kyung Lee, Sung Sup Park, Moon-Woo Seong | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/30415210/ | ||
| Article | Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A | ||
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| Announcements | Annals of Laboratory Medicine | Date of publication | 2018-01 |
| Co-researcher | Soo Hyun Seo, So Yeon Kim, Sung Im Cho, Hyunwoong Park, Seungjun Lee, Jong Moon Choi, Man Jin Kim, Jee Soo Lee, Kyung Jin Ahn, Mi Kyoung Song, Eun Jung Bae, Sung Sup Park, Moon Woo Seong | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/29071820/ | ||
| Article | Adverse prognostic impact of vascular endothelial growth factor gene polymorphisms in patients with diffuse large B-cell lymphoma | ||
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| Announcements | Leukemia & Lymphoma | Date of publication | 2017-11 |
| Co-researcher | Kyong-Ah Yoon, Min Kyeong Kim, Hyeon-Seok Eom, Hyewon Lee, Weon Seo Park, Ji Yeon Sohn, Man Jin Kim, Sun-Young Kong | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28326867/ | ||
| Article | Evaluation of a Real-Time Reverse Transcription-PCR (RT-PCR) Assay for Detection of Middle East Respiratory Syndrome Coronavirus (MERS-CoV) in Clinical Samples from an Outbreak in South Korea in 2015 | ||
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| Announcements | Journal of Clinical Microbiology | Date of publication | 2017-08 |
| Co-researcher | Jee-Soo Lee, Ji Soo Ahn, Byeong Su Yu, Sung Im Cho, Man Jin Kim, Jong Moon Choi, Soo Hyun Seo, Sung Sup Park, Moon-Woo Seong | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28566313/ | ||
| Article | Performance Evaluation of a Point-of-care Test, ‘Samsung LABGEO PA CHF Test’, for the Amino-terminal Pro-brain Natriuretic Peptide | ||
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| Announcements | Laboratory Medicine Online | Date of publication | 2017-07 |
| Co-researcher | Man Jin Kim, M.D., Kyunghoon Lee, M.D., Sun-Hee Jun, M.T., Sang Hoon Song, M.D., Woon Heung Song, Ph.D., Junghan Song, M.D. | ||
| ETC URL | https://labmedonline.org/journal/view.html?uid=248&vmd=Full | ||
| Article | Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR) | ||
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| Announcements | Investigative Ophthalmology & Visual Science | Date of publication | 2016-12 |
| Co-researcher | Soo Hyun Seo, Man Jin Kim, Sung Wook Park, Jeong Hun Kim, Young Suk Yu, Ji Yun Song, Sung Im Cho, Joo Hyun Ahn, Yeon Hee Oh, Jee-Soo Lee, Seungjun Lee, Moon-Woo Seong, Sung Sup Park, Ji Yeon Kim | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/28002565/ | ||
| Article | Viral RNA in Blood as Indicator of Severe Outcome in Middle East Respiratory Syndrome Coronavirus Infection | ||
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| Announcements | Emerging Infectious Diseases | Date of publication | 2016-10 |
| Co-researcher | So Yeon Kim, Sun Jae Park, Sook Young Cho, Ran-Hui Cha, Hyeon-Gun Jee, Gayeon Kim, Hyoung-Shik Shin, Yeonjae Kim, Yu Mi Jung, Jeong-Sun Yang, Sung Soon Kim, Sung Im Cho, Man Jin Kim, Jee-Soo Lee, Seung Jun Lee, Soo Hyun Seo, Sung Sup Park, Moon-Woo Seong | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/27479636/ | ||
| Article | Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma | ||
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| Announcements | BMC Medical Genetics | Date of publication | 2016-07 |
| Co-researcher | Jee-Soo Lee, Ji-Hyun Lee, Kyu Eun Lee, Jung Hee Kim, Joon Mo Hong, Eun Kyung Ra, Soo Hyun Seo, Seung Jun Lee, Man Jin Kim, Sung Sup Park, Moon-Woo Seong | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/27439424/ | ||
| Article | Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications | ||
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| Announcements | Journal of Molecular Diagnostics | Date of publication | 2016-03 |
| Co-researcher | Man Jin Kim, Sung Im Cho, Jong-Hee Chae, Byung Chan Lim, Jee-Soo Lee, Seung Jun Lee, Soo Hyun Seo, Hyunwoong Park, Anna Cho, So Yeon Kim, Ji Yeon Kim, Sung Sup Park, Moon-Woo Seong | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/26743743/ | ||
| Article | Microevolution of Outbreak-Associated Middle East Respiratory Syndrome Coronavirus, South Korea, 2015 | ||
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| Announcements | Emerging Infectious Diseases | Date of publication | 2016-02 |
| Co-researcher | Moon-Woo Seong, So Yeon Kim, Victor Max Corman, Taek Soo Kim, Sung Im Cho, Man Jin Kim, Seung Jun Lee, Jee-Soo Lee, Soo Hyun Seo, Ji Soo Ahn, Byeong Su Yu, Nare Park, Myoung-don Oh, Wan Beom Park, Ji Yeon Lee, Gayeon Kim, Joon Sung Joh, Ina Jeong, Eui Chong Kim, Christian Drosten, Sung Sup Park | ||
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/26814649/ | ||