A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopeniaEur J Med Genet, 2021

Hypomagnesemia and seizures in a patient with an SOS1 mutationSeizure, 2021

Compound heterozygote between point mutation and chromosomal microdeletion involving OTUD6B coinciding with ZMIZ1 variant in syndromic intellectual disabilityGenes, 2021

Phenotypic and Molecular Spectrum of Patients With Switch/sucrose Nonfermenting Complex-related Intellectual Disabilities in KoreaBMC medical genomics, 2021

Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneityScientific reports, 2021

Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center studyPlos One, 2021

3Cnet: Pathogenicity prediction of human variants using knowledge transfer with deep recurrent neural networksBioinformatics, 2021

Ultra-rare renal diseases diagnosed with whole exome sequencing: Utility in diagnosis and managementBMC medical genomics, 2021

Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean CohortGenes, 2021

High Prevalence of Genetic Alterations in Infantile-Onset Cardiomyopathycongenital heart disease, 2021

Empty Sella Syndrome Associated with Growth Hormone Deficiency: The First Case Report of Weiss-Kruszka Syndrome.JKMS, 2021

Quality threshold evaluation of Sanger confirmation for results of whole exome sequencing in clinically diagnostic settingBioRxiv, 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