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Genetic isolates in ophthalmic diseases.
Sherwin JC, Hewitt AW, Ruddle JB, Mackey DA. Sherwin JC, et al. Among authors: ruddle jb. Ophthalmic Genet. 2008 Dec;29(4):149-61. doi: 10.1080/13816810802334341. Ophthalmic Genet. 2008. PMID: 19005985 Review.
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.
Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: ruddle jb. Am J Hum Genet. 2010 Feb 12;86(2):248-53. doi: 10.1016/j.ajhg.2010.01.012. Am J Hum Genet. 2010. PMID: 20159112 Free PMC article.
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
Macgregor S, Hewitt AW, Hysi PG, Ruddle JB, Medland SE, Henders AK, Gordon SD, Andrew T, McEvoy B, Sanfilippo PG, Carbonaro F, Tah V, Li YJ, Bennett SL, Craig JE, Montgomery GW, Tran-Viet KN, Brown NL, Spector TD, Martin NG, Young TL, Hammond CJ, Mackey DA. Macgregor S, et al. Among authors: ruddle jb. Hum Mol Genet. 2010 Jul 1;19(13):2716-24. doi: 10.1093/hmg/ddq144. Epub 2010 Apr 15. Hum Mol Genet. 2010. PMID: 20395239 Free PMC article.
92 results