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GC Genome

Other IDs

Scopus Author ID: 7003420325
ResearcherID: G-7559-2014

Keywords

Molecular Diagnostics, Molecular Microbiology, Laboratory Medicine

Countries

South Korea

Biography

Representative Director, Green Cross Genome
Medical Doctor (Laboratory Medicine)
Specialties: Molecular Diagnostics, Molecular Microbiology

Activities

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Employment (3)

GC Genome: Yongin, Gyeonggi-do, KR

2018-06-01 to present | Representative Director (Director Office)
Employment
Source: Self-asserted source
Chang-Seok Ki

Sungkyunkwan University School of Medicine: Seoul, KR

2005-03-01 to 2018-05-31 | Professor (Laboratory Medicine and Genetics)
Employment
Source: Self-asserted source
Chang-Seok Ki

Samsung Medical Center: Gangnam-gu, Seoul, KR

2005-03-01 to 2018-05-31 | Professor (Laboratory Medicine and Genetics)
Employment
Source: Self-asserted source
Chang-Seok Ki

Education and qualifications (2)

Sungkyunkwan University School of Medicine: Seoul, KR

2001-03 to 2004-02 (Medical Science, Postgraduate School)
Education
Source: Self-asserted source
Chang-Seok Ki

Seoul National University College of Medicine: Seoul, KR

1988-03 to 1994-02
Education
Source: Self-asserted source
Chang-Seok Ki

Works (50 of 515)

Items per page:
Page 1 of 11

Carrier Frequency and Incidence of MUTYH-Associated Polyposis Based on Database Analysis in East Asians and Koreans

Annals of Laboratory Medicine
2025-01-01 | Journal article
DOI: 10.3343/alm.2024.0242
Contributors: Jong Eun Park; Taeheon Lee; Eun Hye Cho; Mi-Ae Jang; Dongju Won; Boyoung Park; Chang-Seok Ki; Sun-Young Kong
Source: check_circle
Crossref

A case of type A insulin resistance syndrome in a 14-year-old adolescent girl without common clinical features

Annals of Pediatric Endocrinology & Metabolism
2023-12-31 | Journal article
DOI: 10.6065/apem.2244106.053
Contributors: Na won Lee; Ji Eun Jeong; Young Hwan Kim; Chang Seok Ki; Jin Kyung Kim
Source: check_circle
Crossref

Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome

Molecular Genetics & Genomic Medicine
2023-09 | Journal article
DOI: 10.1002/mgg3.2240
Contributors: Won Young Heo; Shin Yi Jang; Taek Kyu Park; Chang‐Seok Ki; Jong‐Won Kim; Duk‐Kyung Kim; Ja‐Hyun Jang
Source: check_circle
Crossref

First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review

Annals of Pediatric Endocrinology & Metabolism
2023-03-31 | Journal article
DOI: 10.6065/apem.2142134.067
Contributors: Ari Song; Minji Im; Min-Sun Kim; Eu Seon Noh; Chiwoo Kim; Jahyun Jang; Sae-Mi Lee; Chang-Seok Ki; Sung Yoon Cho; Dong-Kyu Jin
Source: check_circle
Crossref

Cerebrotendinous xanthomatosis in a 10-year-old male presenting with Achilles tendon xanthoma and mild intellectual disability: A case report

Journal of Genetic Medicine
2022-06-30 | Journal article
DOI: 10.5734/JGM.2022.19.1.22
Contributors: Ji Hye Yoon; Ka Young Kim; Sang-Yun Lee; Soo Yeon Kim; Young Ah Lee; Chang-Seok Ki; Junghan Song; Choong Ho Shin; Yun Jeong Lee
Source: check_circle
Crossref

Molecular classification of follicular thyroid carcinoma based on TERT promoter mutations

Modern Pathology
2022-02 | Journal article
DOI: 10.1038/s41379-021-00907-6
Contributors: Hyunju Park; Hyeong Chan Shin; Heera Yang; Jung Heo; Chang-Seok Ki; Hye Seung Kim; Jung-Han Kim; Soo Yeon Hahn; Yun Jae Chung; Sun Wook Kim et al.
Source: check_circle
Crossref

Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing

Yonsei Medical Journal
2021 | Journal article
DOI: 10.3349/ymj.2021.62.3.224
Contributors: Eun Hye Cho; Chang-Seok Ki; Sun Ae Yun; Su-Young Kim; Byung Woo Jhun; Won-Jung Koh; Hee Jae Huh; Nam Yong Lee
Source: check_circle
Crossref

Recent Advances in the Clinical Application of Next-Generation Sequencing

Pediatric Gastroenterology, Hepatology & Nutrition
2021 | Journal article
DOI: 10.5223/pghn.2021.24.1.1
Contributors: Chang-Seok Ki
Source: check_circle
Crossref

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
2021-12 | Journal article
DOI: 10.1186/s13023-021-01789-2
Contributors: Jong Eun Park; Taeheon Lee; Kyeongsu Ha; Chang-Seok Ki
Source: check_circle
Crossref

Response of Clinical Laboratories to the Ongoing COVID-19 Pandemic

Annals of Laboratory Medicine
2021-11-01 | Journal article
DOI: 10.3343/alm.2021.41.6.519
Contributors: Young Jin Kim; Heungsup Sung; Chang-Seok Ki; Mina Hur
Source: check_circle
Crossref

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
2021-05-01 | Journal article
DOI: 10.3343/alm.2021.41.3.350
Contributors: Cha Gon Lee; Chang-Seok Ki
Source: check_circle
Crossref

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
2021-05-01 | Journal article
DOI: 10.3343/alm.2021.41.3.346
Contributors: Ho Namgoong; Chang-Seok Ki; Hyesun Hyun; Il Han Yoo; Won Kyoung Cho; Jung Hyun Lee; Jin-Hee Oh
Source: check_circle
Crossref

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
2021-03-01 | Journal article
DOI: 10.3343/alm.2021.41.2.255
Contributors: Eun Sil Kim; Ju Sun Song; Chang-Seok Ki; Yon Ho Choe; Ben Kang
Source: check_circle
Crossref

Carrier Frequency and Incidence Estimation of Smith–Lemli–Opitz syndrome in East Asian Populations by Genome Aggregation Database (gnomAD) Based Analysis

2021-01-19 | Preprint
DOI: 10.21203/rs.3.rs-149384/v1
Contributors: Jong Eun Park; Taeheon Lee; Kyeongsu Ha; Chang-Seok Ki
Source: check_circle
Crossref

Identification of MECP2 Duplication Using Low-Depth Whole-Genome Sequencing-Based Copy Number Variation Analysis

Laboratory Medicine Online
2020 | Journal article
DOI: 10.3343/lmo.2020.10.2.165
Contributors: Mi-Ae Jang; Soyoung Park; Jong Eun Park; Young-Eun Kim; Chang-Seok Ki
Source: check_circle
Crossref

Determining the best candidates for next‐generation sequencing‐based gene panel for evaluation of early‐onset epilepsy

Molecular Genetics & Genomic Medicine
2020-09 | Journal article
DOI: 10.1002/mgg3.1376
Contributors: Jiwon Lee; Chung Lee; Chang‐Seok Ki; Jeehun Lee
Source: check_circle
Crossref

The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant

American Journal of Medical Genetics Part A
2020-09-09 | Journal article
DOI: 10.1002/ajmg.a.61828
Part of ISSN: 1552-4825
Part of ISSN: 1552-4833
Source: Self-asserted source
Chang-Seok Ki

COVID-19 Testing in South Korea: Current Status and the Need for Faster Diagnostics

Annals of Laboratory Medicine
2020-09-01 | Journal article
DOI: 10.3343/alm.2020.40.5.349
Contributors: Young Jin Kim; Heungsup Sung; Chang-Seok Ki; Mina Hur
Source: check_circle
Crossref

The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay.

Annals of laboratory medicine
2020-09-01 | Journal article
DOI: 10.3343/alm.2020.40.5.435
PMID: 32311861
Source: Self-asserted source
Chang-Seok Ki
grade
Preferred source (of 2)‎

High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence

PLOS ONE
2020-08-26 | Journal article
DOI: 10.1371/journal.pone.0238079
Part of ISSN: 1932-6203
Source: Self-asserted source
Chang-Seok Ki

Distribution and clinical impact of apolipoprotein E4 in subjective memory impairment and early mild cognitive impairment

Scientific Reports
2020-08-07 | Journal article
DOI: 10.1038/s41598-020-69603-w
Part of ISSN: 2045-2322
Source: Self-asserted source
Chang-Seok Ki

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
2020-08-06 | Journal article
DOI: 10.3390/ijms21165629
Contributors: 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; Chang-Seok Ki et al.
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects

Clinical Genetics
2020-07 | Journal article
DOI: 10.1111/cge.13742
Contributors: Eun Hye Cho; Hee Jae Huh; Inyoung Jeong; Nam Yong Lee; Won‐Jung Koh; Hae‐Chul Park; Chang‐Seok Ki
Source: check_circle
Crossref

Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population.

Annals of laboratory medicine
2020-07-01 | Journal article
DOI: 10.3343/alm.2020.40.4.326
PMID: 32067433
Source: Self-asserted source
Chang-Seok Ki
grade
Preferred source (of 2)‎

Genotype-Related Clinical Characteristics and Myocardial Fibrosis and their Association with Prognosis in Hypertrophic Cardiomyopathy.

Journal of clinical medicine
2020-06-01 | Journal article
DOI: 10.3390/jcm9061671
PMID: 32492895
Source: Self-asserted source
Chang-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
2020-05-01 | Journal article
DOI: 10.3343/alm.2020.40.3.224
PMID: 31858762
Source: Self-asserted source
Chang-Seok Ki
grade
Preferred source (of 2)‎

De Novo SCN8A Pathogenic Variant (c.5630A>G; p.Asn1877Ser) Presenting with a Relatively Mild Phenotype

Annals of Child Neurology
2020-03-20 | Journal article
DOI: 10.26815/acn.2020.00024
Part of ISSN: 2635-9103
Source: Self-asserted source
Chang-Seok Ki
grade
Preferred source (of 2)‎

Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.

Allergy, asthma & immunology research
2020-03-01 | Journal article
DOI: 10.4168/aair.2020.12.2.292
PMID: 32009323
PMC: PMC6997278
Source: Self-asserted source
Chang-Seok Ki

From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer.

Annals of laboratory medicine
2020-03-01 | Journal article
DOI: 10.3343/alm.2020.40.2.99
PMID: 31650725
PMC: PMC6822006
Source: Self-asserted source
Chang-Seok Ki
grade
Preferred source (of 2)‎

PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.

Scientific reports
2020-02-26 | Journal article
DOI: 10.1038/s41598-020-59829-z
PMID: 32103039
PMC: PMC7044324
Source: Self-asserted source
Chang-Seok Ki
grade
Preferred source (of 2)‎

Spontaneous Pisa syndrome in a patient with early-onset Alzheimer's disease.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2019-12-06 | Journal article
DOI: 10.1007/s10072-019-04160-3
PMID: 31811530
Source: Self-asserted source
Chang-Seok Ki

Moyamoya Disease and Spectrums of RNF213 Vasculopathy.

Translational stroke research
2019-10-24 | Journal article
DOI: 10.1007/s12975-019-00743-6
PMID: 31650369
Source: Self-asserted source
Chang-Seok Ki

Ring Finger Protein 213 Variant and Plaque Characteristics, Vascular Remodeling, and Hemodynamics in Patients With Intracranial Atherosclerotic Stroke: A High-Resolution Magnetic Resonance Imaging and Hemodynamic Study.

Journal of the American Heart Association
2019-10-08 | Journal article
DOI: 10.1161/JAHA.119.011996
PMID: 31590595
PMC: PMC6818025
Source: Self-asserted source
Chang-Seok Ki

Phenotypic association of presence of a somatic GNAQ mutation with port-wine stain distribution in capillary malformation.

Head & neck
2019-09-18 | Journal article
DOI: 10.1002/hed.25962
PMID: 31532024
Source: Self-asserted source
Chang-Seok Ki

Characterization of a novel LQT3 variant with a selective efficacy of mexiletine treatment.

Scientific reports
2019-09-10 | Journal article
DOI: 10.1038/s41598-019-49450-0
PMID: 31506521
PMC: PMC6736863
Source: Self-asserted source
Chang-Seok Ki

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders.

Annals of laboratory medicine
2019-09-01 | Journal article
DOI: 10.3343/alm.2019.39.5.421
PMID: 31037860
PMC: PMC6502951
Source: Self-asserted source
Chang-Seok Ki
grade
Preferred source (of 2)‎

GenoType NTM-DR Performance Evaluation for Identification of Mycobacterium avium Complex and Mycobacterium abscessus and Determination of Clarithromycin and Amikacin Resistance.

Journal of clinical microbiology
2019-07-26 | Journal article
DOI: 10.1128/JCM.00516-19
PMID: 31167842
PMC: PMC6663903
Source: Self-asserted source
Chang-Seok Ki

Prevalence of fragile X-associated tremor/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signs.

Brain and behavior
2019-06-03 | Journal article
DOI: 10.1002/brb3.1337
PMID: 31158927
PMC: PMC6625470
Source: Self-asserted source
Chang-Seok Ki

Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease.

Neurobiology of aging
2019-05-22 | Journal article
DOI: 10.1016/j.neurobiolaging.2019.05.009
PMID: 31217084
Source: Self-asserted source
Chang-Seok Ki

De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea

Korean Journal of Pediatrics
2019-05-15 | Journal article
DOI: 10.3345/kjp.2018.06772
Contributors: Kyoung Hee Han; Jong Eun Park; Chang-Seok Ki
Source: check_circle
Crossref

Long-term natural history of non-cavitary nodular bronchiectatic nontuberculous mycobacterial pulmonary disease.

Respiratory medicine
2019-03-26 | Journal article
DOI: 10.1016/j.rmed.2019.03.014
PMID: 31047103
Source: Self-asserted source
Chang-Seok Ki

A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm.

Molecular genetics & genomic medicine
2019-03-08 | Journal article
DOI: 10.1002/mgg3.620
PMID: 30848080
PMC: PMC6503022
Source: Self-asserted source
Chang-Seok Ki

Comparative Evaluation Between the RealStar Pneumocystis jirovecii PCR Kit and the AmpliSens Pneumocystis jirovecii (carinii)-FRT PCR Kit for Detecting P. jirovecii in Non-HIV Immunocompromised Patients.

Annals of laboratory medicine
2019-03-01 | Journal article
DOI: 10.3343/alm.2019.39.2.176
PMID: 30430780
PMC: PMC6240529
Source: Self-asserted source
Chang-Seok Ki

Multimodal imaging analyses in patients with genetic and sporadic forms of small vessel disease.

Scientific reports
2019-01-28 | Journal article
DOI: 10.1038/s41598-018-36580-0
PMID: 30692550
PMC: PMC6349863
Source: Self-asserted source
Chang-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
2019-01-01 | Journal article
DOI: 10.3343/alm.2019.39.1.105
PMID: 30215240
PMC: PMC6143462
Source: Self-asserted source
Chang-Seok Ki
grade
Preferred source (of 2)‎

Is Cross-reactivity with Nontuberculous Mycobacteria a Systematic Problem in the Xpert MTB/RIF Assay?

Tuberculosis and respiratory diseases
2019-01-01 | Journal article
DOI: 10.4046/trd.2018.0075
PMID: 30574692
PMC: PMC6304324
Source: Self-asserted source
Chang-Seok Ki

A De Novo RAPGEF2 Variant Identified in a Sporadic Amyotrophic Lateral Sclerosis Patient Impairs Microtubule Stability and Axonal Mitochondria Distribution.

Experimental neurobiology
2018-12-12 | Journal article
DOI: 10.5607/en.2018.27.6.550
PMID: 30636905
PMC: PMC6318558
Source: Self-asserted source
Chang-Seok Ki

Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease.

Neurobiology of aging
2018-11-07 | Journal article
DOI: 10.1016/j.neurobiolaging.2018.10.030
PMID: 30502028
Source: Self-asserted source
Chang-Seok Ki

Comparison between DiaPlexQ™ STI6 and GeneFinder™ STD I/STD II multiplex Real-time PCR Kits in the detection of six sexually transmitted disease pathogens.

Journal of clinical laboratory analysis
2018-11-02 | Journal article
DOI: 10.1002/jcla.22703
PMID: 30390337
PMC: PMC6818581
Source: Self-asserted source
Chang-Seok Ki

A Case of Cruoricaptor ignavus Isolated From the Blood of a Patient With Ewing Sarcoma.

Annals of laboratory medicine
2018-11-01 | Journal article
DOI: 10.3343/alm.2018.38.6.613
PMID: 30027709
PMC: PMC6056387
Source: Self-asserted source
Chang-Seok Ki
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