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Change Seok Ki (Chang-Seok Ki, Chang Seok Ki)

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 29

Top Venues

Annals of laboratory medicine

Yonsei medical journal

Journal of Korean medical science

Molecular genetics & genomic medicine

GC Genome

This page only lists publications with an associated author ORCID identifier.

Affiliation History

GC Genome Jun 1o 2018

South Korea

Representative Director :: Director Office

Publications

Won Young Heo, Shin Yi Jang, Taek Kyu Park, Change Seok Ki, Jong Won Kim, Duk-Kyoung Kim, Ja Hyun Jang
Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome. Molecular genetics & genomic medicine (2023)
Minyeop Nahm, Su Min Lim, Young-Eun Kim, Jinseok Park, Seung-Hyun Kim, Sanggon Lee, Ju Eun Roh, Sung-Min Hwang, Chul-Kyu Park, Yong Ho Kim, GyuTae Lim, Jinhyuk Lee, Ki-Wook Oh, Change Seok Ki, Seung Hyun Kim
ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics. Science translational medicine 12 (566) (2021)
Hyunju Park, Hyeong Chan Shin, Heera Yang, Jung Heo, Change Seok Ki, Hye Seung Kim, Jung-Han Kim, Soo Yeon Hahn, Yun Jae Chung, Sun Wook Kim, Jae Hoon Chung, Young Lyun Oh, Bongseong Kim
Molecular classification of follicular thyroid carcinoma based on TERT promoter mutations. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc (2021)
Eun-Sil Kim, Ju Sun Song, Change Seok Ki, Yon Ho Choe, Ben Kang
Development of Crohn's Disease in a Child With SLC26A3-related Congenital Chloride Diarrhea: Report of the First Case in East Asia and a Novel Missense Variant. Annals of laboratory medicine 41 (2) (2021)
Soyoung Park, Byung Ryul Jeon, You Kyoung Lee, Change Seok Ki, Mi Ae Jang
The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay. Annals of laboratory medicine 40 (5) (2021)
Ho Namgoong, Change Seok Ki, Hye Sun Hyun, Il Han Yoo, Won-Kyoung Cho, Jung Hyun Lee, Jin Hee Oh
Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea. Annals of laboratory medicine 41 (3) (2021)
Young-Jin Kim, Heung-Sup Sung, Change Seok Ki, Mina Hur
Response of Clinical Laboratories to the Ongoing COVID-19 Pandemic. Annals of laboratory medicine 41 (6) (2021)
Cha Gon Lee, Change Seok Ki
A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome. Annals of laboratory medicine 41 (3) (2021)
Eun Hye Cho, Change Seok Ki, Sun Ae Yun, Su Young Kim, Byung Woo Jhun, Won-Jung Koh, Hee Jae Huh, Nam Yong Lee
Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing. Yonsei medical journal 62 (3) (2021)
Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Change Seok Ki
Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis. Orphanet journal of rare diseases 16 (1) (2021)
Change Seok Ki
Recent Advances in the Clinical Application of Next-Generation Sequencing. Pediatric gastroenterology, hepatology & nutrition 24 (1) (2021)
Jong Eun Park, Sun Ae Yun, Eun Youn Rho, Jong Hyun Yoon, Sue Shin, Change Seok Ki
Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population. Annals of laboratory medicine 40 (4) (2020)
Yoon Young Cho, So Young Park, Jung Hee Shin, Young Lyun Oh, Jun-Ho Choe, Jung-Han Kim, Jee Soo Kim, Hyun Sook Yim, Yoo-Li Kim, Change Seok Ki, Bongseong Kim, Young Lyun Oh, Sun Wook Kim
Highly Sensitive and Specific Molecular Test for Mutations in the Diagnosis of Thyroid Nodules: A Prospective Study of BRAF-Prevalent Population. International journal of molecular sciences 21 (16) (2020)
Young-Jin Kim, Heung-Sup Sung, Change Seok Ki, Mina Hur
COVID-19 Testing in South Korea: Current Status and the Need for Faster Diagnostics. Annals of laboratory medicine 40 (5) (2020)
Change Seok Ki
From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer. Annals of laboratory medicine 40 (2) (2020)
Ju Sun Song, Amel Bahloul, Christine Petit, Sang Jin Kim, Il Joon Moon, Jinhyuk Lee, Change Seok Ki
A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss. Annals of laboratory medicine 40 (3) (2020)
Jiwon Lee, Chung Lee, Change Seok Ki, Jeehun Lee
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy. Molecular genetics & genomic medicine 8 (9) (2020)
Eun Hye Cho, Hee Jae Huh, Inyoung Jeong, Nam Yong Lee, Won-Jung Koh, Hae-Chul Park, Change Seok Ki
A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects. Clinical genetics 98 (1) (2020)
Young-Eun Kim, Change Seok Ki, Mi Ae Jang
Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders. Annals of laboratory medicine 39 (5) (2019)
Byung Woo Jhun, Su Young Kim, Seong Mi Moon, Kyeongman Jeon, O Jung Kwon, Hee Jae Huh, Change Seok Ki, Nam Yong Lee, Sung Jae Shin, Charles L Daley, Won-Jung Koh
Development of Macrolide Resistance and Reinfection in Refractory Mycobacterium avium Complex Lung Disease. American journal of respiratory and critical care medicine 198 (10) (2019)
Mi Ra Ryu, Ji Hyun Yang, Sang Youl Rhee, Ahra Cho, Seong Yoon Kim, Change Seok Ki
Compound Heterozygous Pathogenic Variants of the 15-Hydroxyprostaglandin Dehydrogenase Gene in a Patient With Hypertrophic Osteoarthropathy: First Case in Korea. Annals of laboratory medicine 39 (1) (2019)
Ki Hoon Kim, Ju Sun Song, Chan Wook Park, Change Seok Ki, Kyoung Heo
First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea. Yonsei medical journal 59 (6) (2018)
Ryoung-Eun Ko, Seong Mi Moon, Soo Hyun Ahn, Byung Woo Jhun, Kyeongman Jeon, O Jung Kwon, Hee Jae Huh, Change Seok Ki, Nam Yong Lee, Won-Jung Koh
Changing Epidemiology of Nontuberculous Mycobacterial Lung Diseases in a Tertiary Referral Hospital in Korea between 2001 and 2015. Journal of Korean medical science 33 (8) (2018)
Hee Jae Huh, Byung Woo Jhun, Sae Rom Choi, Yae Jean Kim, Sun Ae Yun, Eliel Nham, Taehwan Kong, Change Seok Ki, Won-Jung Koh
Bronchiectasis and Recurrent Respiratory Infections with a De Novo STAT1 Gain-of-Function Variant: First Case in Korea. Yonsei medical journal 59 (8) (2018)
Bo Kyeung Jung, Jeeyong Kim, Chi Hyun Cho, Ju Yeon Kim, Myung-Hyun Nam, Bong Kyung Shin, Eun Youn Rho, Sollip Kim, Heung-Sup Sung, Shinyoung Kim, Change Seok Ki, Min-Jeong Park, Kap No Lee, Soo-Young Yoon
Report on the Project for Establishment of the Standardized Korean Laboratory Terminology Database, 2015. Journal of Korean medical science 32 (4) (2017)
Mi-Ae Jang, Jong-Won Chung, Je Young Yeon, Jong-Soo Kim, Seung Chyul Hong, Oh Young Bang, Change Seok Ki
Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease. PloS one 12 (6) (2017)
Ju Sun Song, Jong-Sun Kang, Young-Eun Kim, Seung-Jung Park, Kyoung-Min Park, June Huh, June Soo Kim, Hana Cho, Change Seok Ki, Young Keun On
Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors. Journal of human genetics 62 (6) (2017)
Mi-Ae Jang, Young-Eun Kim, Sun Kyung Kim, Myoung-Keun Lee, Jong-Won Kim, Change Seok Ki
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1. Journal of human genetics 61 (8) (2016)
Hyukmin Lee, Change Seok Ki, Heungsup Sung, Sinyoung Kim, Moon-Woo Seong, Dongeun Yong, Jae-Seok Kim, Mi-Kyung Lee, Mi Na Kim, Jong-Rak Choi, Jeong-Ho Kim, null null
Guidelines for the Laboratory Diagnosis of Middle East Respiratory Syndrome Coronavirus in Korea. Infection & chemotherapy 48 (1) (2016)

Change Seok Ki.css-eqlu8i{font-size:small;padding-left:4px;} (Chang-Seok Ki, Chang Seok Ki)

Publication Activity (10 Years)

Top Topics

Top Venues

Change Seok Ki (Chang-Seok Ki, Chang Seok Ki)