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YUHSpace1. College of Medicine (의과대학)Dept. of Ophthalmology (안과학교실)1. Journal Papers

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Issue DateTitleJournal Title
2017Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus SyndromeJAMA OPHTHALMOLOGY
2020Copy Number Variations and Multiallelic Variants in Korean Patients With Leber Congenital Amaurosis MOLECULAR VISION
2017Diagnostic application of clinical exome sequencing in Leber congenital amaurosis MOLECULAR VISION
2021DYNC2H1 variants cause Leber congenital amaurosis without syndromic featuresCLINICAL GENETICS
2022Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy FRONTIERS IN NEUROLOGY
2021In Silico identification of a common mobile element insertion in exon 4 of RP1 SCIENTIFIC REPORTS
2019Missed Heterozygous Deletion in Study of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome JAMA OPHTHALMOLOGY
2023Next-Generation Sequencing of Vitreoretinal Lymphoma by Vitreous Liquid Biopsy: Diagnostic Potential and Genotype/Phenotype Correlation INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2022Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
2022Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort GENES
2021Serial Detection of MYD88 L265P Mutation in the Aqueous Humor of a Patient with Vitreoretinal Lymphoma for Disease MonitoringOCULAR IMMUNOLOGY AND INFLAMMATION
2020SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization HUMAN MOLECULAR GENETICS
2019Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndromeOphthalmic Genetics
2021TUBB3 M323V Syndrome Presents with Infantile Nystagmus GENES
2020Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma HAEMATOLOGICA
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