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Proposal of a New Prognostic Model for Differentiated Thyroid Cancer with TERT Promoter Mutations

2021 Jun

Park J, Lee S, Park J, Park H, Ki CS, Oh YL, Shin JH, Kim JS, Kim SW, Chung JH, Kim K, Kim TH.

Molecular classification of follicular thyroid carcinoma based on TERT promoter mutations

2021 Sep

Park H, Shin HC, Yang H, Heo J, Ki CS, Kim HS, Kim JH, Hahn SY, Chung YJ, Kim SW, Chung JH, Oh YL, Kim TH.

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis

2021 Oct

Hwang N, Jang JH, Cho EH, Choi R, Choi SJ, Park HD.

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly

2021 Aug

Park JE, Kim E, Lee DW, Park TK, Kim MS, Jang SY, Ahn J, Park KB, Kim KH, Park HC, Ki CS, Kim DK.

De novo mutations in SOD1 are a cause of ALS

2021 Sep

Müller K, Oh KW, Nordin A, Panthi S, Kim SH, Nordin F, Freischmidt A, Ludolph AC, Ki CS, Forsberg K, Weishaupt J, Kim YE, Andersen PM.

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

2020 Apr

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

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

2021 Mar

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

Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea

2021 May

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

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

2021 May

Lee CG, Ki CS

Response of Clinical Laboratories to the Ongoing COVID-19 Pandemic

2021 Nov

Kim YJ, Sung H, Ki CS, Hur M.

Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience

2021 May

Kim SJ, Lee SM, Choi JM, Jang JH, Kim HG, Kim JT, Cho JH, Sohn YB.