Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomalyAJHG, 2022

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

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