Chang-seok S. Ki
Yongin, Republic of Korea
Last Updated: 09/26/2026
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Found 311 publications
Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism.
Journal: Journal of translational medicine
Published: January 21, 2026
TERT promoter mutations and recurrence patterns in differentiated thyroid carcinoma.
Journal: Endocrine-related cancer
Published: July 22, 2025
A Novel Blood-Based Test for Colorectal Cancer Detection Using Cell-Free DNA Fragmentomics.
Journal: The American journal of gastroenterology
Published: July 07, 2025
Prevalence of germline CHEK2 variants in East Asians and Koreans based on population genomic databases.
Journal: Breast cancer (Tokyo, Japan)
Published: June 26, 2025
Genetic epidemiology of moyamoya disease and CADASIL in over 120,000 healthy Korean individuals: Insights into cerebrovascular disorders.
Journal: PloS one
Published: March 23, 2025
Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach.
Journal: Annals of laboratory medicine
Published: February 26, 2025
Mutations in NEK1 cause ciliary dysfunction as a novel pathogenic mechanism in amyotrophic lateral sclerosis.
Journal: Molecular neurodegeneration
Published: February 17, 2025
Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population.
Journal: Scientific reports
Published: January 03, 2025
CleanSeqU algorithm for decontamination of catheterized urine 16S rRNA sequencing data.
Journal: Scientific reports
Published: October 23, 2024
Carrier Frequency and Incidence of MUTYH-Associated Polyposis Based on Database Analysis in East Asians and Koreans.
Journal: Annals of laboratory medicine
Published: May 13, 2024
Last Updated: 09/26/2026