Search Results - "Serpen, Jasmine Y."
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A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification
Published in Genes (01-05-2023)“…Progressive corneal opacification can result from multiple etiologies, including corneal dystrophies or systemic and genetic diseases. We describe a novel…”
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Immunogenetics of the Ocular Anterior Segment: Lessons from Inherited Disorders
Published in Journal of ophthalmology (2021)“…Autoimmune and autoinflammatory diseases cause morbidity in multiple organ systems including the ocular anterior segment. Genetic disorders of the innate and…”
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Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort
Published in Journal of ophthalmology (06-10-2020)“…Background/Aims. Optic disc drusen (ODD) are calcified deposits of proteinaceous material in the optic disc, and their burden in ocular conditions is unknown…”
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Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy
Published in Ophthalmology (Rochester, Minn.) (01-04-2023)“…We aimed to characterize the ocular phenotype of patients with ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome…”
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Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort
Published in Scientific reports (17-11-2020)“…Nanophthalmos is a rare condition defined by a small, structurally normal eye with resultant high hyperopia. While six genes have been implicated in this…”
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To the Editor: Holistic Assessment of Research Accolades in Medical Trainees
Published in Journal of graduate medical education (01-08-2021)Get full text
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