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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.
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.
Lu Y, Dimasi DP, Hysi PG, Hewitt AW, Burdon KP, Toh T, Ruddle JB, Li YJ, Mitchell P, Healey PR, Montgomery GW, Hansell N, Spector TD, Martin NG, Young TL, Hammond CJ, Macgregor S, Craig JE, Mackey DA. Lu Y, et al. Among authors: ruddle jb. PLoS Genet. 2010 May 13;6(5):e1000947. doi: 10.1371/journal.pgen.1000947. PLoS Genet. 2010. PMID: 20485516 Free PMC article.
92 results