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Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC. Yardley J, et al. Among authors: reddy ma. Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. doi: 10.1167/iovs.04-0550. Invest Ophthalmol Vis Sci. 2004. PMID: 15452077
Childhood-onset Leber hereditary optic neuropathy.
Majander A, Bowman R, Poulton J, Antcliff RJ, Reddy MA, Michaelides M, Webster AR, Chinnery PF, Votruba M, Moore AT, Yu-Wai-Man P. Majander A, et al. Among authors: reddy ma. Br J Ophthalmol. 2017 Nov;101(11):1505-1509. doi: 10.1136/bjophthalmol-2016-310072. Epub 2017 Mar 17. Br J Ophthalmol. 2017. PMID: 28314831 Free article.
Differences in Childhood Growth Parameters Between Patients With Somatic and Heritable Retinoblastoma.
Hicks RM, Ji X, Zou Y, Sultana S, Rashid R, Sherief ST, Cassoux N, Garcia Leon JL, Diaz Coronado RY, López AMZ, Ushakova TL, Polyakov VG, Roy SR, Ahmad A, Reddy MA, Sagoo MS, Al Harby L, Berry JL, Polski A, Astbury NJ, Bascaran C, Blum S, Bowman R, Burton MJ, Gomel N, Keren-Froim N, Madgar S, Zondervan M, Kaliki S, Fabian ID, Stacey AW. Hicks RM, et al. Among authors: reddy ma. Invest Ophthalmol Vis Sci. 2024 Apr 1;65(4):39. doi: 10.1167/iovs.65.4.39. Invest Ophthalmol Vis Sci. 2024. PMID: 38662390 Free PMC article.
Spectrum of RB1 mutations identified in 403 retinoblastoma patients.
Price EA, Price K, Kolkiewicz K, Hack S, Reddy MA, Hungerford JL, Kingston JE, Onadim Z. Price EA, et al. Among authors: reddy ma. J Med Genet. 2014 Mar;51(3):208-14. doi: 10.1136/jmedgenet-2013-101821. Epub 2013 Nov 13. J Med Genet. 2014. PMID: 24225018
207 results