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Raine eye health study: design, methodology and baseline prevalence of ophthalmic disease in a birth-cohort study of young adults.
Yazar S, Forward H, McKnight CM, Tan A, Soloshenko A, Oates SK, Ang W, Sherwin JC, Wood D, Mountain JA, Pennell CE, Hewitt AW, Mackey DA. Yazar S, et al. Among authors: pennell ce. Ophthalmic Genet. 2013 Dec;34(4):199-208. doi: 10.3109/13816810.2012.755632. Epub 2013 Jan 10. Ophthalmic Genet. 2013. PMID: 23301674 Free article. Clinical Trial.
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Aung T, Yogarajah M, Robson AG, Holder GE, Cheetham ME, Traboulsi EI, Moore AT, Sowden JC, Sisodiya SM, Mackey DA, Tuft SJ, Hardcastle AJ. Webb TR, et al. Among authors: pennell ce. Am J Hum Genet. 2012 Feb 10;90(2):247-59. doi: 10.1016/j.ajhg.2011.12.019. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284829 Free PMC article.
Common variants at 12q15 and 12q24 are associated with infant head circumference.
Taal HR, Pourcain BS, Thiering E, Das S, Mook-Kanamori DO, Warrington NM, Kaakinen M, Kreiner-Møller E, Bradfield JP, Freathy RM, Geller F, Guxens M, Cousminer DL, Kerkhof M, Timpson NJ, Ikram MA, Beilin LJ, Bønnelykke K, Buxton JL, Charoen P, Chawes BLK, Eriksson J, Evans DM, Hofman A, Kemp JP, Kim CE, Klopp N, Lahti J, Lye SJ, McMahon G, Mentch FD, Müller M, O'Reilly PF, Prokopenko I, Rivadeneira F, Steegers EAP, Sunyer J, Tiesler C, Yaghootkar H; Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium; Breteler MMB, Debette S, Fornage M, Gudnason V, Launer LJ, van der Lugt A, Mosley TH, Seshadri S, Smith AV, Vernooij MW; Early Genetics & Lifecourse Epidemiology (EAGLE) consortium; Blakemore AI, Chiavacci RM, Feenstra B, Fernandez-Benet J, Grant SFA, Hartikainen AL, van der Heijden AJ, Iñiguez C, Lathrop M, McArdle WL, Mølgaard A, Newnham JP, Palmer LJ, Palotie A, Pouta A, Ring SM, Sovio U, Standl M, Uitterlinden AG, Wichmann HE, Vissing NH, DeCarli C, van Duijn CM, McCarthy MI, Koppelman GH, Estivill X, Hattersley AT, Melbye M, Bisgaard H, Pennell CE, Widen E, Hakonarson H, Smith GD, Heinrich J, Jarvelin MR; Early Growth Genetics (EGG) Consor… See abstract for full author list ➔ Taal HR, et al. Among authors: pennell ce. Nat Genet. 2012 Apr 15;44(5):532-538. doi: 10.1038/ng.2238. Nat Genet. 2012. PMID: 22504419 Free PMC article.
Genetic variants near PDGFRA are associated with corneal curvature in Australians.
Mishra A, Yazar S, Hewitt AW, Mountain JA, Ang W, Pennell CE, Martin NG, Montgomery GW, Hammond CJ, Young TL, Macgregor S, Mackey DA. Mishra A, et al. Among authors: pennell ce. Invest Ophthalmol Vis Sci. 2012 Oct 11;53(11):7131-6. doi: 10.1167/iovs.12-10489. Invest Ophthalmol Vis Sci. 2012. PMID: 22969067 Free PMC article.
Birth of a cohort--the first 20 years of the Raine study.
McKnight CM, Newnham JP, Stanley FJ, Mountain JA, Landau LI, Beilin LJ, Puddey IB, Pennell CE, Mackey DA. McKnight CM, et al. Among authors: pennell ce. Med J Aust. 2012 Dec 10;197(11):608-10. doi: 10.5694/mja12.10698. Med J Aust. 2012. PMID: 23230915 No abstract available.
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A, Hewitt AW, Koehn D, Hysi PG, Ramdas WD, Zeller T, Vithana EN, Cornes BK, Tay WT, Tai ES, Cheng CY, Liu J, Foo JN, Saw SM, Thorleifsson G, Stefansson K, Dimasi DP, Mills RA, Mountain J, Ang W, Hoehn R, Verhoeven VJ, Grus F, Wolfs R, Castagne R, Lackner KJ, Springelkamp H, Yang J, Jonasson F, Leung DY, Chen LJ, Tham CC, Rudan I, Vatavuk Z, Hayward C, Gibson J, Cree AJ, MacLeod A, Ennis S, Polasek O, Campbell H, Wilson JF, Viswanathan AC, Fleck B, Li X, Siscovick D, Taylor KD, Rotter JI, Yazar S, Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Haines JL, Kang JH, Pasquale LR, Allingham RR, Ashley-Koch A; NEIGHBOR Consortium; Mitchell P, Wang JJ, Wright AF, Pennell C, Spector TD, Young TL, Klaver CC, Martin NG, Montgomery GW, Anderson MG, Aung T, Willoughby CE, Wiggs JL, Pang CP, Thorsteinsdottir U, Lotery AJ, Hammond CJ, van Duijn CM, Hauser MA, Rabinowitz YS, Pfeiffer N, Mackey DA, Craig JE, Macgregor S, Wong TY. Lu Y, et al. Among authors: pennell c. Nat Genet. 2013 Feb;45(2):155-63. doi: 10.1038/ng.2506. Epub 2013 Jan 6. Nat Genet. 2013. PMID: 23291589 Free PMC article.
293 results