Quality threshold evaluation of Sanger confirmation for results of whole exome sequencing in clinically diagnostic setting Seo GH, Kim H, Kye M, Park JY, Won DG ,Lee J, BioRxiv, 2020

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

Hypotonia, Ataxia, and Delayed Development Syndrome caused by the EBF3 mutation in a Korean boy with muscle hypotonia Kim TG, Choi YH, Lee YN, Kang MJ, Seo GH, Lee BH, Journal of genetic medicine,

An A627V activating mutation in the thyroid stimulating hormone receptor gene in a patient with familial non-autoimmune hyperthyroidism Shin HJ, Seo GH, Oh SH, Chung WY, Kim HY, Kim YM, Bae MH, Park KH, Kwak MJ, Annals of Pediatric Endocrinology & Metabolism,

Diagnosis of Schaaf-Yang syndrome in children with developmental delay by exome sequencing Ahn H, Seo GH, Oh A, Lee Y, Keum C, Heo SH, Kim T, Choi J, Kim GH, Ko TS, Yum MS, Lee BH, Choi IH, Medicine,

Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders Kim MJ, Yum MS, Seo GH ,Lee Y ,Jang HN,Ko TS, Lee BH, Journal of Clinical Medicine,

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 J, Diagnostics, 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