Research
A novel PS4 criterion approach based on symptoms of rare diseases and in-house frequency data in a Bayesian framework Cho YK, Won DG, Keum C, Lee BH, Seo GH, Lee BC, BioRxiv, 2020
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE Seo GH, Kim T, Park JY, Lee J, Kim S, Won DG, Oh A, Lee Y, Choi IH, Choi J, Lee H, Kang HG, Cho HY, Cho MH, Kim YJ, Yoon YH, Eun BL, Desnick RJ, Keum C, Lee BH, Clinical genetics, 2020
The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 gene mutations in two siblings confirmed by clinical and molecular investigation Yoo S, Kim YA, Yoon JY, Seo GH, Keum C, Cheon CK, Brain and Development, 2020
Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome Son H, Lee J, Oh SH, Keum C, Chung WY, Annals of Pediatric Endocrinology & Metabolism, 2020
Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome Ahn H, Seo GH, Keum C,Heo S, Kim T, Choi J, Yum MS, Lee BH, Brain and Development, 2020
Identification of a heterozygous ACAN mutation in a 15-year old boy with familial short stature presenting an advanced bone age: A case report Kim TY, Jang KM, Keum C, Oh SH, Chung WY, Annals of Pediatric Endocrinology & Metabolism, 2020
First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation Lee B, Oh S, Jun K, Hur Y, Lee J, Keum C, Woo Chung, Annals of Clinical & Laboratory Science, 2020
Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14 Kang E, Kim T, Oh A, Yum M, Keum C, Yoo HW, Lee BH, Journal of Human genetics, 2019