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Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
Bax NM, Sangermano R, Roosing S, Thiadens AA, Hoefsloot LH, van den Born LI, Phan M, Klevering BJ, Westeneng-van Haaften C, Braun TA, Zonneveld-Vrieling MN, de Wijs I, Mutlu M, Stone EM, den Hollander AI, Klaver CC, Hoyng CB, Cremers FP. Bax NM, et al. Among authors: braun ta. Hum Mutat. 2015 Jan;36(1):43-7. doi: 10.1002/humu.22717. Hum Mutat. 2015. PMID: 25363634
Regulation of gene expression in the mammalian eye and its relevance to eye disease.
Scheetz TE, Kim KY, Swiderski RE, Philp AR, Braun TA, Knudtson KL, Dorrance AM, DiBona GF, Huang J, Casavant TL, Sheffield VC, Stone EM. Scheetz TE, et al. Among authors: braun ta. Proc Natl Acad Sci U S A. 2006 Sep 26;103(39):14429-34. doi: 10.1073/pnas.0602562103. Epub 2006 Sep 18. Proc Natl Acad Sci U S A. 2006. PMID: 16983098 Free PMC article.
Genome-wide analysis of copy number variants in age-related macular degeneration.
Meyer KJ, Davis LK, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Stone EM, Sheffield VC. Meyer KJ, et al. Among authors: braun ta. Hum Genet. 2011 Jan;129(1):91-100. doi: 10.1007/s00439-010-0904-6. Epub 2010 Oct 28. Hum Genet. 2011. PMID: 20981449 Free PMC article.
Prioritization of retinal disease genes: an integrative approach.
Wagner AH, Taylor KR, DeLuca AP, Casavant TL, Mullins RF, Stone EM, Scheetz TE, Braun TA. Wagner AH, et al. Among authors: braun ta. Hum Mutat. 2013 Jun;34(6):853-9. doi: 10.1002/humu.22317. Epub 2013 Apr 12. Hum Mutat. 2013. PMID: 23508994 Free PMC article.
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
Braun TA, Mullins RF, Wagner AH, Andorf JL, Johnston RM, Bakall BB, Deluca AP, Fishman GA, Lam BL, Weleber RG, Cideciyan AV, Jacobson SG, Sheffield VC, Tucker BA, Stone EM. Braun TA, et al. Hum Mol Genet. 2013 Dec 20;22(25):5136-45. doi: 10.1093/hmg/ddt367. Epub 2013 Aug 4. Hum Mol Genet. 2013. PMID: 23918662 Free PMC article.
56 results