Research
3Cnet: Pathogenicity prediction of human variants using knowledge transfer with deep recurrent neural networksBioRxiv, 2020
A novel PS4 criterion approach based on symptoms of rare diseases and in-house frequency data in a Bayesian frameworkBioRxiv, 2020
Hypotonia, Ataxia, and Delayed Development Syndrome caused by the EBF3 mutation in a Korean boy with muscle hypotoniaJournal of genetic medicine, 2020
An A627V activating mutation in the thyroid stimulating hormone receptor gene in a patient with familial non-autoimmune hyperthyroidismAnnals of Pediatric Endocrinology & Metabolism, 2020
Diagnosis of Schaaf-Yang syndrome in children with developmental delay by exome sequencingMedicine, 2020
Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic DisordersJournal of Clinical Medicine, 2020
Clinical characteristics of genetically confirmed patients with retinitis pigmentosa associated with PDE6B mutationsScientific reports, 2020
Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 GeneDiagnostics, 2020
A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic FeaturesAnnals of Clinical & Laboratory Science, 2020
Clinical and molecular spectra of BRAF-associated RASopathyJournal of human genetics, 2020
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCEClinical 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 investigationBrain and Development, 2020
Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndromeAnnals of Pediatric Endocrinology & Metabolism, 2020
Rapidly progressing early puberty in a boy with bilateral basal ganglia germinoma and TREX1 variantIranian Journal of Pediatrics, 2020
Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndromeBrain 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 reportAnnals of Pediatric Endocrinology & Metabolism, 2020
First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B MutationAnnals of Clinical & Laboratory Science, 2020
Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14Journal of Human genetics, 2019