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C

Chang‐Seok Ki

Samsung Medical Center

59H-index
769Paper Count
1.6WCitation Count
Published Papers 295
Publication Date
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Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism
errJournal of Translational Medicine
IF7.5
err2026-05-11
err0
errOAAI
errSu Min Lim; Suhyun Kim; Jinseok Park; Young-Eun Kim; Ok Cho Na; Minyeop Nahm; Min-Young Noh; Ki-Wook Oh; Chang-Seok Ki; Woong-Hee Shin; Hae-Chul Park; Seung Hyun Kim
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Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach
errAnnals of Laboratory Medicine
IF3.9
err2026-01-01
err0
errOAAI
errPark, Kyung Sun; Shin, Sunghwan; Park, Jong-Ho; Kim, Young-Eun; Kwon, Won Kyung; So, Min-Kyung; Ha, Changhee; Jang, Ja-Hyun; Lee, Taeheon; Ki, Chang-Seok; Kim, Yoonjung; Lee, Kyung-A; Park, Inho; Lee, Sejoon; Won, Hong-Hee; Kim, Jong-Won
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Impact of Clinical Variables on cfDNA Fragmentomic Signatures and Their Potential as Confounders in Cancer Detection
errCLINICAL CHEMISTRY
IF6.3
err2025-12-01
err0
PREAI
errLee, Tae-Rim; Cho, Eun Hye; Ahn, Jin Mo; Lee, Junnam; Ki, Chang-Seok; Jeong, Byeong-Ho; Kwon, Min-Jung; Cho, Eun-Hae
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PREVALENCE OF PATHOGENICTSC1 ANDTSC2 VARIANTS IN THE KOREAN POPULATION BASED ON LARGE-SCALE GENOMIC DATA
errNEURO-ONCOLOGY
IF13.4
err2025-11-01
err0
errOAAI
errPark, Jong Eun; Yu, Mi-Yeon; Lee, Taeheon; Cho, Eun Hye; Jang, Mi-Ae; Won, Dongju; Park, Boyoung; Ha, Jung-Sook; Kim, Do Hoon; Kim, Kyoung-Bo; Ki, Chang-Seok; Kong, Sun-Young
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Genetic epidemiology of moyamoya disease and CADASIL in over 120,000 healthy Korean individuals: Insights into cerebrovascular disorders
errPLOS ONE
IF2.6
err2025-09-22
err0
PREAI
errCho, Eun Hye; Lee, Myoungkeun; Ki, Chang-Seok; Seol, Chang Ahn; Jang, Mi-Ae
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errSave
Prevalence of germline CHEK2 variants in East Asians and Koreans based on population genomic databases
errBreast Cancer
IF2.9
err2025-09-16
err0
PREAI
errJong Eun Park; Taeheon Lee; Eun Hye Cho; Mi-Ae Jang; Dongju Won; Boyoung Park; Jung-Sook Ha; Do Hoon Kim; Kyoung-Bo Kim; Chang-Seok Ki; Sun-Young Kong
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Mutations in NEK1 cause ciliary dysfunction as a novel pathogenic mechanism in amyotrophic lateral sclerosis
errMOLECULAR NEURODEGENERATION
IF17.5
err2025-05-20
err0
errOAAI
errNoh, Min-Young; Oh, Seong-il; Kim, Young-Eun; Cha, Sun Joo; Sung, Wonjae; Oh, Ki-Wook; Park, Yurim; Mun, Ji Young; Ki, Chang-Seok; Kim, Seung Hyun
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Prevalence estimation of the PALB2 germline variant in East Asians and Koreans through population database analysis
errANNALS OF ONCOLOGY
IF65.4
err2024-12-01
err0
PREAI
errPark, J. E.; Kang, M-. C.; Lee, T.; Cho, E. H.; Jang, M-a.; Won, D.; Park, B.; Ki, C-s.; Kong, S-y.
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errSave
Carrier Frequency and Incidence of MUTYH-Associated Polyposis Based on Database Analysis in East Asians and Koreans
errANNALS OF LABORATORY MEDICINE
IF3.9
err2024-11-05
err0
errOAAI
errPark, Jong Eun; Lee, Taeheon; Cho, Eun Hye; Jang, Mi-Ae; Won, Dongju; Park, Boyoung; Ki, Chang-Seok; Kong, Sun-Young
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errSave
Carrier frequency and incidence of MUTYH-associated polyposis in an East Asian and Korean population by population database-based analysis
errCLINICA CHIMICA ACTA
IF2.9
err2024-05-01
err0
PREAI
errPark, J. E.; Cho, E. H.; Lee, T.; Jang, M.; Won, D.; Park, B.; Ki, C.; Kong, S.
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errSave
A deep learning-based multimodal ensemble algorithm for lung cancer early detection with cross-ethnic generalizability
errCANCER RESEARCH
IF16.6
err2024-03-22
err0
PREAI
errLee, Tae-Rim; Ahn, Jin Mo; Lee, Junnam; Kim, Dasom; Jeong, Byeong-Ho; Oh, Dongryul; Wang, Mengchi; Salmans, Michael; Carson, Andrew; Leatham, Bryan; Fathe, Kristin; Lee, Byung In; Ki, Chang-Seok; Park, Young Sik; Cho, Eun-Hae
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Progranulin haploinsufficiency mediates cytoplasmic TDP-43 aggregation with lysosomal abnormalities in human microglia
errJOURNAL OF NEUROINFLAMMATION
IF10.1
err2024-02-13
err1
errOAAI
errSung, Wonjae; Noh, Min-Young; Nahm, Minyeop; Kim, Yong Sung; Ki, Chang-Seok; Kim, Young-Eun; Kim, Hee-Jin; Kim, Seung Hyun
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Novel In-Frame Deletion CNOT3 Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic Facies
errNEUROLOGY-GENETICS
IF3.7
err2024-02-01
err0
errOAAI
errLee, Cha Gon; Kim, Hyun Jung; Seol, Chang Ahn; Ki, Chang-Seok
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errSave
An analysis of variants in TARDBP in the Korean population with amyotrophic lateral sclerosis: comparison with previous data
errSCIENTIFIC REPORTS
IF3.9
err2023-11-01
err0
errOAAI
errSung, Wonjae; Kim, Jin-Ah; Kim, Yong Sung; Park, Jinseok; Oh, Ki-Wook; Sung, Jung-Joon; Ki, Chang-Seok; Kim, Young-Eun; Kim, Seung Hyun
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errSave
Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study
errPEDIATRIC RESEARCH
IF3.1
err2023-06-07
err8
PREAI
errPark, Jong Eun; Lee, Taeheon; Ha, Kyeongsu; Cho, Eun Hye; Ki, Chang-Seok
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errSave
Integrative modeling of tumor genomes and epigenomes for enhanced cancer diagnosis by cell-free DNA
errNATURE COMMUNICATIONS
IF15.7
err2023-04-10
err9
errOAAI
errBae, Mingyun; Kim, Gyuhee; Lee, Tae-Rim; Ahn, Jin Mo; Park, Hyunwook; Park, Sook Ryun; Song, Ki Byung; Jun, Eunsung; Oh, Dongryul; Lee, Jeong-Won; Park, Young Sik; Song, Ki-Won; Byeon, Jeong-Sik; Kim, Bo Hyun; Sohn, Joo Hyuk; Kim, Min Hwan; Kim, Gun Min; Chie, Eui Kyu; Kang, Hyun-Cheol; Kong, Sun-Young; Woo, Sang Myung; Lee, Jeong Eon; Ryu, Jai Min; Lee, Junnam; Kim, Dasom; Ki, Chang-Seok; Cho, Eun-Hae; Choi, Jung Kyoon
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Deep learning algorithm for cancer detection using multimodal characteristics of whole methylome sequencing of cf-DNA
errCANCER RESEARCH
IF16.6
err2023-04-04
err0
PREAI
errPark, Juntae; Kim, Minjung; Park, Sook Ryun; Song, Ki-Byung; Jun, Eunsung; Oh, Dongryul; Lee, Jeong-Won; Park, Young Sik; Song, Ki-Won; Byeon, Jeong-Sik; Kim, Bo Hyun; Ki, Chang-Seok; Cho, Eunhae
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errSave
Dynamics of genomic instability of circulating tumor DNA in pancreatic cancer patients
errCANCER RESEARCH
IF16.6
err2023-04-04
err0
PREAI
errHeo, SooBeen; Chun, Jung Won; Cho, Eun-Hae; Lee, Tae-Rim; Ki, Chang-Seok; Kim, Yun-Hee; Woo, Sang Myung; Kong, Sun-Young
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errSave
ASO Visual Abstract: Selection Criteria for Completion Thyroidectomy in Follicular Thyroid Carcinoma Using Primary Tumor Size and TERT Promoter Mutational Status
errANNALS OF SURGICAL ONCOLOGY
IF3.5
err2023-01-30
err0
PREAI
errPark, Hyunju; Heo, Jung; Ki, Chang-Seok; Shin, Jung Hee; Oh, Young Lyun; Son, Young Ik; Kim, Jee Soo; Kim, Sun Wook; Chung, Jae Hoon; Kim, Tae Yong; Kim, Tae Hyuk; Kim, Jung-Han
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Selection Criteria for Completion Thyroidectomy in Follicular Thyroid Carcinoma Using Primary Tumor Size and TERT Promoter Mutational Status
errANNALS OF SURGICAL ONCOLOGY
IF3.5
err2023-01-13
err7
errOAAI
errPark, Hyunju; Heo, Jung; Ki, Chang-Seok; Shin, Jung Hee; Oh, Young Lyun; Son, Young Ik; Kim, Jee Soo; Kim, Sun Wook; Chung, Jae Hoon; Kim, Tae Yong; Kim, Tae Hyuk; Kim, Jung-Han
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errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
D
David L. Kaplan
H-index: 194 · Papers: 2.4K
S
Sang Yup Lee
H-index: 137 · Papers: 3.1K
K
Keunchil Park
H-index: 113 · Papers: 958
A
Albert C. Ludolph
H-index: 109 · Papers: 2.0K
E
E. J. Kim
H-index: 100 · Papers: 1.0K
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