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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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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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A Case of Corneal Dysplasia with Identification of POLH Gene Variants in Xeroderma Pigmentosum

Shin EH, Lim DH, Kim YD, Woo KI, Han J, Park JE, Chung TY, Ki CS

PURPOSE: To discuss the clinical course and diagnosis of corneal dysplasia in a xeroderma pigmentosum patient based on a genetic evaluation. CASE SUMMARY: A 42-year-old female visited our clinic for decreased...
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A Case of Urinary Tract Infection Caused by the Emerging Uropathogen Actinotignum schaalii

Kwon WK, Song DJ, Huh HJ, Park SH, Ki CS, Lee NY

Actinotignum schaalii is an emerging uropathogen; however, routine culture protocols and usual phenotypic methods do not allow for easy detection and identification. Herein, we report the first Korean case of...
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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

Huh HJ, Lim KR, Ki CS, Huh K, Shim HJ, Song DJ, Kim YJ, Chung DR, Lee NY

BACKGROUND: Real-time PCR is more sensitive than microscopic examination for detecting Pneumocystis jirovecii. We compared the performance of two assays for detecting P. jirovecii DNA: the RealStar Pneumocystis jirovecii PCR...
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