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Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.
Stambolian D, Wojciechowski R, Oexle K, Pirastu M, Li X, Raffel LJ, Cotch MF, Chew EY, Klein B, Klein R, Wong TY, Simpson CL, Klaver CC, van Duijn CM, Verhoeven VJ, Baird PN, Vitart V, Paterson AD, Mitchell P, Saw SM, Fossarello M, Kazmierkiewicz K, Murgia F, Portas L, Schache M, Richardson A, Xie J, Wang JJ, Rochtchina E; DCCT/EDIC Research Group; Viswanathan AC, Hayward C, Wright AF, Polasek O, Campbell H, Rudan I, Oostra BA, Uitterlinden AG, Hofman A, Rivadeneira F, Amin N, Karssen LC, Vingerling JR, Hosseini SM, Döring A, Bettecken T, Vatavuk Z, Gieger C, Wichmann HE, Wilson JF, Fleck B, Foster PJ, Topouzis F, McGuffin P, Sim X, Inouye M, Holliday EG, Attia J, Scott RJ, Rotter JI, Meitinger T, Bailey-Wilson JE. Stambolian D, et al. Hum Mol Genet. 2013 Jul 1;22(13):2754-64. doi: 10.1093/hmg/ddt116. Epub 2013 Mar 7. Hum Mol Genet. 2013. PMID: 23474815 Free PMC article.
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.
Marazita ML, Murray JC, Lidral AC, Arcos-Burgos M, Cooper ME, Goldstein T, Maher BS, Daack-Hirsch S, Schultz R, Mansilla MA, Field LL, Liu YE, Prescott N, Malcolm S, Winter R, Ray A, Moreno L, Valencia C, Neiswanger K, Wyszynski DF, Bailey-Wilson JE, Albacha-Hejazi H, Beaty TH, McIntosh I, Hetmanski JB, Tunçbilek G, Edwards M, Harkin L, Scott R, Roddick LG. Marazita ML, et al. Am J Hum Genet. 2004 Aug;75(2):161-73. doi: 10.1086/422475. Epub 2004 Jun 4. Am J Hum Genet. 2004. PMID: 15185170 Free PMC article.
Support for polygenic influences on ocular refractive error.
Klein AP, Duggal P, Lee KE, Klein R, Bailey-Wilson JE, Klein BE. Klein AP, et al. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):442-6. doi: 10.1167/iovs.04-0794. Invest Ophthalmol Vis Sci. 2005. PMID: 15671267
A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region.
Baffoe-Bonnie AB, Smith JR, Stephan DA, Schleutker J, Carpten JD, Kainu T, Gillanders EM, Matikainen M, Teslovich TM, Tammela T, Sood R, Balshem AM, Scarborough SD, Xu J, Isaacs WB, Trent JM, Kallioniemi OP, Bailey-Wilson JE. Baffoe-Bonnie AB, et al. Hum Genet. 2005 Aug;117(4):307-16. doi: 10.1007/s00439-005-1306-z. Epub 2005 May 20. Hum Genet. 2005. PMID: 15906096
Genome-wide scan for myopia in the Old Order Amish.
Stambolian D, Ciner EB, Reider LC, Moy C, Dana D, Owens R, Schlifka M, Holmes T, Ibay G, Bailey-Wilson JE. Stambolian D, et al. Am J Ophthalmol. 2005 Sep;140(3):469-76. doi: 10.1016/j.ajo.2005.04.014. Am J Ophthalmol. 2005. PMID: 16084785
248 results