- First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review
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Song A, Im M, Kim MS, Noh ES, Kim C, Jang J, Lee SM, Ki CS, Cho SY, Jin DK
- KMID: 2540790
- Ann Pediatr Endocrinol Metab.
- 2023 Mar;28(1):67-72.
- doi: 10.6065/apem.2142134.067
Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive... -
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- Cerebrotendinous xanthomatosis in a 10-year-old male presenting with Achilles tendon xanthoma and mild intellectual disability: A case report
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Yoon JH, Kim KY, Lee SY, Kim SY, Lee YA, Ki CS, Song J, Shin CH, Lee YJ
- KMID: 2531191
- J Genet Med.
- 2022 Jun;19(1):22-26.
- doi: 10.5734/JGM.2022.19.1.22
Cerebrotendinous xanthomatosis (CTX) is a rare genetic disease caused by a deficiency of enzymes for the synthesis of bile acid, resulting in the accumulation of cholestanol with reduced chenodeoxycholic acid... -
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- 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
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Lee CG, Ki CS
- KMID: 2512698
- Ann Lab Med.
- 2021 May;41(3):350-353.
- doi: 10.3343/alm.2021.41.3.350
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- Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea
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Namgoong H, Ki CS, Hyun H, Yoo IH, Cho WK, Lee JH, Oh JH
- KMID: 2512697
- Ann Lab Med.
- 2021 May;41(3):346-349.
- doi: 10.3343/alm.2021.41.3.346
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- 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
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Kim ES, Song JS, Ki CS, Choe YH, Kang B
- KMID: 2512676
- Ann Lab Med.
- 2021 Mar;41(2):255-257.
- doi: 10.3343/alm.2021.41.2.255
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- Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing
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Cho EH, Ki CS, Yun SA, Kim SY, Jhun BW, Koh WJ, Huh HJ, Lee NY
- KMID: 2513213
- Yonsei Med J.
- 2021 Mar;62(3):224-230.
- doi: 10.3349/ymj.2021.62.3.224
Purpose: Nontuberculous mycobacteria (NTM) is ubiquitous in the environment, but NTM lung disease (NTM-LD) is uncommon. Since exposure to NTM is inevitable, patients who develop NTM-LD are likely to have... -
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- Recent Advances in the Clinical Application of Next-Generation Sequencing
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Ki CS
- KMID: 2510619
- Pediatr Gastroenterol Hepatol Nutr.
- 2021 Jan;24(1):1-6.
- doi: 10.5223/pghn.2021.24.1.1
Next-generation sequencing (NGS) technologies have changed the process of genetic diagnosis from a gene-by-gene approach to syndrome-based diagnostic gene panel sequencing (DPS), diagnostic exome sequencing (DES), and diagnostic genome sequencing... -
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- The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay
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Park S, Jeon BR, Lee YK, Ki CS, Jang MA
- KMID: 2502578
- Ann Lab Med.
- 2020 Sep;40(5):435-437.
- doi: 10.3343/alm.2020.40.5.435
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- COVID-19 Testing in South Korea: Current Status and the Need for Faster Diagnostics
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Kim YJ, Sung H, Ki CS, Hur M
- KMID: 2502564
- Ann Lab Med.
- 2020 Sep;40(5):349-350.
- doi: 10.3343/alm.2020.40.5.349
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- De Novo SCN8A Pathogenic Variant (c.5630A>G; p.Asn1877Ser) Presenting with a Relatively Mild Phenotype
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Kim E, Ki CS, Park S, Lee KY
- KMID: 2504763
- Ann Child Neurol.
- 2020 Jul;28(3):118-121.
- doi: 10.26815/acn.2020.00024
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- Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population
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Park JE, Yun SA, Roh EY, Yoon JH, Shin S, Ki CS
- KMID: 2470330
- Ann Lab Med.
- 2020 Jul;40(4):326-330.
- doi: 10.3343/alm.2020.40.4.326
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive proximal muscle weakness and atrophy. Given the recent introduction of gene therapies, knowledge of the SMA carrier frequency... -
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- 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
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Song JS, Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, Ki CS
- KMID: 2466015
- Ann Lab Med.
- 2020 May;40(3):224-231.
- doi: 10.3343/alm.2020.40.3.224
BACKGROUND: Pathogenic variants of USH1C, encoding a PDZ-domain-containing protein called harmonin, have been known to cause autosomal recessive syndromic or nonsyndromic hearing loss (NSHL). We identified a causative gene in... -
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- Identification of MECP2 Duplication Using Low-Depth Whole-Genome Sequencing-Based Copy Number Variation Analysis
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Jang MA, Park S, Park JE, Kim YE, Ki CS
- KMID: 2512248
- Lab Med Online.
- 2020 Apr;10(2):165-168.
- doi: 10.3343/lmo.2020.10.2.165
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- Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience
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Kwon WK, Choi S, Kim HJ, Huh HJ, Kang JM, Kim YJ, Yoo KH, Ahn K, Cho HK, Peck KR, Jang JH, Ki CS, Kang ES
- KMID: 2468463
- Allergy Asthma Immunol Res.
- 2020 Mar;12(2):292-305.
- doi: 10.4168/aair.2020.12.2.292
PURPOSE: While there is an urgent need for diagnosis and therapeutic intervention in patients with primary immunodeficiency diseases (PIDs), current genetic tests have drawbacks. We retrospectively reviewed the usefulness of... -
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- From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer
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Ki CS
- KMID: 2460906
- Ann Lab Med.
- 2020 Mar;40(2):99-100.
- doi: 10.3343/alm.2020.40.2.99
No abstract available. -
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- Erratum: Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders
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Kim YE, Ki CS, Jang MA
- KMID: 2450963
- Ann Lab Med.
- 2019 Nov;39(6):606-606.
- doi: 10.3343/alm.2019.39.6.606
This erratum is being published to revise the website address of the Korean Reference Genome Database (KRGDB) and correct two typographical errors in the article. -
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- Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders
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Kim YE, Ki CS, Jang MA
- KMID: 2450964
- Ann Lab Med.
- 2019 Sep;39(5):421-429.
- doi: 10.3343/alm.2019.39.5.421
In 2015, the American College of Medical Genetics and Genomics (ACMG), together with the Association for Molecular Pathology (AMP), published the latest guidelines for the interpretation of sequence variants, which... -
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- A case of FLNA gene mutation with respiratory insufficiency and periventricular heterotopia
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Park H, Park MS, Ki CS, Cho J, Lee J, Kim J, Ahn K
- KMID: 2461409
- Allergy Asthma Respir Dis.
- 2019 Jul;7(3):158-164.
- doi: 10.4168/aard.2019.7.3.158
Filamin A is an actin-binding protein and, in humans, is encoded by FLNA gene in the long arm of X chromosome. Filamin A plays a role in the formation of... -
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- Mycobacterium shimoidei Pulmonary Disease: The First Case in Korea
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Shin S, Yoo IY, Jhun BW, Koh WJ, Ki CS, Lee NY, Huh HJ
- KMID: 2450842
- Lab Med Online.
- 2019 Jul;9(3):166-170.
- doi: 10.3343/lmo.2019.9.3.166
Mycobacterium shimoidei is a nontuberculous mycobacterium (NTM), and is rarely reported as a pathogen causing the NTM pulmonary disease. We describe here the case of a 52-year-old male with symptoms... -
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- De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
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Han KH, Park JE, Ki CS
- KMID: 2451970
- Korean J Pediatr.
- 2019 May;62(5):193-197.
- doi: 10.3345/kjp.2018.06772
Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, α4, and α5). ATS is characterized by persistent microscopic... -
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