Research
Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseasesMedicine (Baltimore), 2022
Improving genetic diagnosis by disease‑specifc, ACMG/AMP variant interpretation guidelines for hearing lossScientific reports, 2022
A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case ReportAnnals of clinical &laboratory science, 2022
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weightAm J Med Genet A, 2022
Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: A case report and reviewAnn Pediatr Endocrinol Metab, 2022
Pediatric Movement disorders in Neurogenetic disease identified by Exome sequencingFrontiers in genetics , 2022
Undiagnosed disease program in South Africa: Results from first 100 exomesAm J Med Genet A, 2022
Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in LebanonFrontiel genetics, 2022
PTPN23 Neurodevelopmental Disorder Presenting With Optic Atrophy and Spasmus Nutans–Like NystagmusJournal of neurophthalomology, 2022
Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve DisordersiOVS, 2022
Diagnostic performance of automated streamlined, daily updated, exome analysis in patients with delayed developmentMolecular medicine, 2022
The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in PNPLA6Journal of Clinical neurology, 2022
Major Contribution of GREB1L Alterations to Severe Inner Ear Malformation Largely in a Non-Mendelian FashionClinical & Experimental Otorhinolaryngology, 2022
The first case of novel variants of FSHR mutation causing primary amenorrhea in two siblings in KoreaAnn Pediatr Endocrinol Metab, 2022
Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria and severe intellectual disability in a Pakhtun familyAm J Med Genet A, 2021
Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14The journal of genetic medicine, 2021
A sibling study of infantile cerebellar-retinal degeneration with novel compound heterozygous variants in ACO2Frontiers in genetics, 2021
Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 MutationChildhood kidney diseases, 2021
A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short statureOphthalmic genetics, 2021
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
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
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