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

Song A, Im M, Kim MS, Noh ES, Kim C, Jang J, Lee SM, Ki CS, Cho SY, Jin DK

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

Yoon JH, Kim KY, Lee SY, Kim SY, Lee YA, Ki CS, Song J, Shin CH, Lee YJ

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

Lee CG, Ki CS

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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

Namgoong H, Ki CS, Hyun H, Yoo IH, Cho WK, Lee JH, Oh JH

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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

Kim ES, Song JS, Ki CS, Choe YH, Kang B

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

Cho EH, Ki CS, Yun SA, Kim SY, Jhun BW, Koh WJ, Huh HJ, Lee NY

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

Ki CS

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

Park S, Jeon BR, Lee YK, Ki CS, Jang MA

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

Kim YJ, Sung H, Ki CS, Hur M

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

Kim E, Ki CS, Park S, Lee KY

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

Park JE, Yun SA, Roh EY, Yoon JH, Shin S, Ki CS

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

Song JS, Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, Ki CS

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

Jang MA, Park S, Park JE, Kim YE, Ki CS

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

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

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

Ki CS

No abstract available.
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Erratum: Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Kim YE, Ki CS, Jang MA

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

Kim YE, Ki CS, Jang MA

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

Park H, Park MS, Ki CS, Cho J, Lee J, Kim J, Ahn K

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

Shin S, Yoo IY, Jhun BW, Koh WJ, Ki CS, Lee NY, Huh HJ

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

Han KH, Park JE, Ki CS

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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