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Showing results 1 to 8 of 8

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Issue Date	Title	Journal Title
2020	Copy Number Variations and Multiallelic Variants in Korean Patients With Leber Congenital Amaurosis	MOLECULAR VISION
2021	DYNC2H1 variants cause Leber congenital amaurosis without syndromic features	CLINICAL GENETICS
2021	In Silico identification of a common mobile element insertion in exon 4 of RP1	SCIENTIFIC REPORTS
2023	Next-Generation Sequencing of Vitreoretinal Lymphoma by Vitreous Liquid Biopsy: Diagnostic Potential and Genotype/Phenotype Correlation	INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2022	Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus	TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
2015	PSA-NCAM-negative neural crest cells emerging during neural induction of pluripotent stem cells cause mesodermal tumors and unwanted grafts	STEM CELL REPORTS
2021	Serial Detection of MYD88 L265P Mutation in the Aqueous Humor of a Patient with Vitreoretinal Lymphoma for Disease Monitoring	OCULAR IMMUNOLOGY AND INFLAMMATION
2020	Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma	HAEMATOLOGICA