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115 results

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Page 1
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Weisschuh N, Sturm M, Baumann B, Audo I, Ayuso C, Bocquet B, Branham K, Brooks BP, Catalá-Mora J, Giorda R, Heckenlively JR, Hufnagel RB, Jacobson SG, Kellner U, Kitsiou-Tzeli S, Matet A, Martorell Sampol L, Meunier I, Rudolph G, Sharon D, Stingl K, Streubel B, Varsányi B, Wissinger B, Kohl S. Weisschuh N, et al. Among authors: branham k. Hum Mutat. 2020 Jan;41(1):255-264. doi: 10.1002/humu.23920. Epub 2019 Sep 30. Hum Mutat. 2020. PMID: 31544997 Free PMC article.
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.
Friedman JS, Chang B, Kannabiran C, Chakarova C, Singh HP, Jalali S, Hawes NL, Branham K, Othman M, Filippova E, Thompson DA, Webster AR, Andréasson S, Jacobson SG, Bhattacharya SS, Heckenlively JR, Swaroop A. Friedman JS, et al. Among authors: branham k. Am J Hum Genet. 2006 Dec;79(6):1059-70. doi: 10.1086/510021. Epub 2006 Oct 23. Am J Hum Genet. 2006. PMID: 17186464 Free PMC article.
Molecular testing for hereditary retinal disease as part of clinical care.
Downs K, Zacks DN, Caruso R, Karoukis AJ, Branham K, Yashar BM, Haimann MH, Trzupek K, Meltzer M, Blain D, Richards JE, Weleber RG, Heckenlively JR, Sieving PA, Ayyagari R. Downs K, et al. Among authors: branham k. Arch Ophthalmol. 2007 Feb;125(2):252-8. doi: 10.1001/archopht.125.2.252. Arch Ophthalmol. 2007. PMID: 17296903
Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.
Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Roman AJ, Windsor EA, Steinberg JD, Branham K, Othman M, Swaroop A, Jacobson SG. Aleman TS, et al. Among authors: branham k. Invest Ophthalmol Vis Sci. 2007 Oct;48(10):4759-65. doi: 10.1167/iovs.07-0453. Invest Ophthalmol Vis Sci. 2007. PMID: 17898302 Free PMC article.
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.
Wu DM, Khanna H, Atmaca-Sonmez P, Sieving PA, Branham K, Othman M, Swaroop A, Daiger SP, Heckenlively JR. Wu DM, et al. Among authors: branham k. Eye (Lond). 2010 May;24(5):764-74. doi: 10.1038/eye.2009.270. Epub 2009 Nov 6. Eye (Lond). 2010. PMID: 19893586 Free PMC article.
E2-2 protein and Fuchs's corneal dystrophy.
Baratz KH, Tosakulwong N, Ryu E, Brown WL, Branham K, Chen W, Tran KD, Schmid-Kubista KE, Heckenlively JR, Swaroop A, Abecasis G, Bailey KR, Edwards AO. Baratz KH, et al. Among authors: branham k. N Engl J Med. 2010 Sep 9;363(11):1016-24. doi: 10.1056/NEJMoa1007064. Epub 2010 Aug 25. N Engl J Med. 2010. PMID: 20825314 Free article.
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A. Branham K, et al. Invest Ophthalmol Vis Sci. 2012 Dec 13;53(13):8232-7. doi: 10.1167/iovs.12-11025. Invest Ophthalmol Vis Sci. 2012. PMID: 23150612 Free PMC article.
115 results