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Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy.
Ahuja AS, Selvam P, Vadlamudi C, Chopra H, Richter JE Jr, Macklin SK, Samreen A, Helmi H, Mohammaad AN, Hines S, Davila MC, Atwal PS, Caulfield TR. Ahuja AS, et al. Ophthalmic Genet. 2020 Dec;41(6):563-569. doi: 10.1080/13816810.2020.1814344. Epub 2020 Sep 17. Ophthalmic Genet. 2020. PMID: 32940104
Teleophthalmology's Value in Screening for Blinding Eye Diseases.
Ahuja AS, Bommakanti S, Farford B, Byrnes ÉS, Ten Hulzen RD, Dorairaj S. Ahuja AS, et al. J Curr Ophthalmol. 2021 Jul 5;33(2):101-103. doi: 10.4103/joco.joco_140_21. eCollection 2021 Apr-Jun. J Curr Ophthalmol. 2021. PMID: 34409217 Free PMC article. No abstract available.
65 results