3Cnet: Pathogenicity prediction of human variants using knowledge transfer with deep recurrent neural networks Won D, Lee K, BioRxiv, 2020


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


Clinical characteristics of genetically confirmed patients with retinitis pigmentosa associated with PDE6B mutations Kim YN, Song JS, Oh SH, Kim YJ, Yoon YH, Seol CA, Seo EJ,, Lee SM, Choi JM, Seo GH, Keum C, Lee BH, Lee JY, Scientific reports, 2020


"Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene" Jezela-Stanek A, Blaz W, Gora A, Bochenska M, Kusmierska K, Sykut-Cegielska JDiagnostics, 2020


A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features Oh SH, Keum C, Her M, Chung WY, Kim YH, and Kim T, Annals of Clinical & Laboratory Science, 2020


Clinical and molecular spectra of BRAF-associated RASopathy Lee Y, Choi Y, Seo GH, Kim GH, Choi IH, Keum C, Ko MJ, Cheon CK, Jeon J, Choi JH, Yoo HW, Lee BH, Journal of human genetics, 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


Rapidly progressing early puberty in a boy with bilateral basal ganglia germinoma and TREX1 variant Ha J, Rhie S,Chae KY, Yoo EG,Choi HJ,Seo GH, Jung MK, Iranian Journal of Pediatricsm, 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