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Molecular and clinical studies of X-linked deafness among Pakistani families.
Waryah AM, Ahmed ZM, Bhinder MA, Choo DI, Sisk RA, Shahzad M, Khan SN, Friedman TB, Riazuddin S, Riazuddin S. Waryah AM, et al. Among authors: sisk ra. J Hum Genet. 2011 Jul;56(7):534-40. doi: 10.1038/jhg.2011.55. Epub 2011 Jun 2. J Hum Genet. 2011. PMID: 21633365 Free PMC article.
Gene therapy for Leber congenital amaurosis: advances and future directions.
Hufnagel RB, Ahmed ZM, Corrêa ZM, Sisk RA. Hufnagel RB, et al. Among authors: sisk ra. Graefes Arch Clin Exp Ophthalmol. 2012 Aug;250(8):1117-28. doi: 10.1007/s00417-012-2028-2. Epub 2012 May 29. Graefes Arch Clin Exp Ophthalmol. 2012. PMID: 22644094 Free PMC article. Review.
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.
Cideciyan AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed ZM, Kohl S, Wissinger B, Jacobson SG. Cideciyan AV, et al. Among authors: sisk ra. Hum Gene Ther. 2013 Dec;24(12):993-1006. doi: 10.1089/hum.2013.153. Epub 2013 Oct 30. Hum Gene Ther. 2013. PMID: 24067079 Free PMC article.
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM. Hufnagel RB, et al. Among authors: sisk ra. J Med Genet. 2015 Feb;52(2):85-94. doi: 10.1136/jmedgenet-2014-102856. Epub 2014 Dec 5. J Med Genet. 2015. PMID: 25480986 Free PMC article.
Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.
Patterson EJ, Wilk M, Langlo CS, Kasilian M, Ring M, Hufnagel RB, Dubis AM, Tee JJ, Kalitzeos A, Gardner JC, Ahmed ZM, Sisk RA, Larsen M, Sjoberg S, Connor TB, Dubra A, Neitz J, Hardcastle AJ, Neitz M, Michaelides M, Carroll J. Patterson EJ, et al. Among authors: sisk ra. Invest Ophthalmol Vis Sci. 2016 Jul 1;57(8):3853-63. doi: 10.1167/iovs.16-19608. Invest Ophthalmol Vis Sci. 2016. PMID: 27447086 Free PMC article.
Benign Yellow Dot Maculopathy: A New Macular Phenotype.
Dev Borman A, Rachitskaya A, Suzani M, Sisk RA, Ahmed ZM, Holder GE, Cipriani V, Arno G, Webster AR, Hufnagel RB, Berrocal A, Moore AT. Dev Borman A, et al. Among authors: sisk ra. Ophthalmology. 2017 Jul;124(7):1004-1013. doi: 10.1016/j.ophtha.2017.02.026. Epub 2017 Mar 31. Ophthalmology. 2017. PMID: 28366503 Free PMC article.
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
Garnai SJ, Brinkmeier ML, Emery B, Aleman TS, Pyle LC, Veleva-Rotse B, Sisk RA, Rozsa FW, Ozel AB, Li JZ, Moroi SE, Archer SM, Lin CM, Sheskey S, Wiinikka-Buesser L, Eadie J, Urquhart JE, Black GCM, Othman MI, Boehnke M, Sullivan SA, Skuta GL, Pawar HS, Katz AE, Huryn LA, Hufnagel RB; Genomic Ascertainment Cohort; Camper SA, Richards JE, Prasov L. Garnai SJ, et al. Among authors: sisk ra. PLoS Genet. 2019 May 2;15(5):e1008130. doi: 10.1371/journal.pgen.1008130. eCollection 2019 May. PLoS Genet. 2019. PMID: 31048900 Free PMC article.
96 results