2016

Fan Q, Guo X, Tideman JW, Williams KM, Yazar S, Hosseini SM, Howe LD, Pourcain BS, Evans DM, Timpson NJ, McMahon G, Hysi PG, Krapohl E, Wang YX, Jonas JB, Baird PN, Wang JJ, Cheng CY, Teo YY, Wong TY, Ding X, Wojciechowski R, Young TL, Pärssinen O, Oexle K, Pfeiffer N, Bailey-Wilson JE, Paterson AD, Klaver CC, Plomin R, Hammond CJ, Mackey DA, He M, Saw SM, Williams C, Guggenheim JA; CREAM Consortium. Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium. Sci Rep. 2016 May 13;6:25853. Pubmed Abstract

Sanfilippo PG, Chu BS, Bigault O, Kearns LS, Boon MY, Young TL, Hammond CJ, Hewitt AW, Mackey DA. Response: Cycloplegia in refraction: age and cycloplegics. Acta Ophthalmol. 2016 May 11. doi: 10.1111/aos.13082. Pubmed Abstract

Hung SS, Van Bergen NJ, Jackson S, Liang H, Mackey DA, Hern√°ndez D, Lim SY, Hewitt AW, Trounce I, Pébay A, Wong RC. Study of mitochondrial respiratory defects on reprogramming to human induced pluripotent stem cells. Aging. 2016 Apr 26. Pubmed Abstract

Yazar S, Franchina M, Craig JE, Burdon KP, Mackey DA. Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome. Ophthalmic Genet. 2016 Apr 20:1-4. Pubmed Abstract

Fan Q, Verhoeven VJ, Wojciechowski R, Barathi VA, Hysi PG, Guggenheim JA, Höhn R, Vitart V, Khawaja AP, Yamashiro K, Hosseini SM, Lehtimäki T, Lu Y, Haller T, Xie J, Delcourt C, Pirastu M, Wedenoja J, Gharahkhani P, Venturini C, Miyake M, Hewitt AW, Guo X, Mazur J, Huffman JE, Williams KM, Polasek O, Campbell H, Rudan I, Vatavuk Z, Wilson JF, Joshi PK, McMahon G, St Pourcain B, Evans DM, Simpson CL, Schwantes-An TH, Igo RP, Mirshahi A, Cougnard-Gregoire A, Bellenguez C, Blettner M, Raitakari O, Kähönen M, Seppala I, Zeller T, Meitinger T; Consortium for Refractive Error and Myopia (CREAM), Ried JS, Gieger C, Portas L, van Leeuwen EM, Amin N, Uitterlinden AG, Rivadeneira F, Hofman A, Vingerling JR, Wang YX, Wang X, Tai-Hui Boh E, Ikram MK, Sabanayagam C, Gupta P, Tan V, Zhou L, Ho CE, Lim W, Beuerman RW, Siantar R, Tai ES, Vithana E, Mihailov E, Khor CC, Hayward C, Luben RN, Foster PJ, Klein BE, Klein R, Wong HS, Mitchell P, Metspalu A, Aung T, Young TL, He M, Pärssinen O, van Duijn CM, Jin Wang J, Williams C, Jonas JB, Teo YY, Mackey DA, Oexle K, Yoshimura N, Paterson AD, Pfeiffer N, Wong TY, Baird PN, Stambolian D, Wilson JE, Cheng CY, Hammond CJ, Klaver CC, Saw SM, Rahi JS, Korobelnik JF, Kemp JP, Timpson NJ, Smith GD, Craig JE, Burdon KP, Fogarty RD, Iyengar SK, Chew E, Janmahasatian S, Martin NG, MacGregor S, Xu L, Schache M, Nangia V, Panda-Jonas S, Wright AF, Fondran JR, Lass JH, Feng S, Zhao JH, Khaw KT, Wareham NJ, Rantanen T, Kaprio J, Pang CP, Chen LJ, Tam PO, Jhanji V, Young AL, Döring A, Raffel LJ, Cotch MF, Li X, Yip SP, Yap MK, Biino G, Vaccargiu S, Fossarello M, Fleck B, Yazar S, Tideman JW, Tedja M, Deangelis MM, Morrison M, Farrer L, Zhou X, Chen W, Mizuki N, Meguro A, Mäkelä KM. Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. Nat Commun. 2016;7:11008. Pubmed Abstract

Sanfilippo PG, Huynh E, Yazar S, Hewitt AW, Mackey DA.SD-OCT derived characteristics of Bruch's Membrane Opening in a young adult Australian population. Am J Ophthalmol. 2016;165:154-63. Pubmed Abstract

Souzeau E, Burdon KP, Mackey DA, Hewitt AW, Savarirayan R, Otlowski M, Craig JE. Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research. Transl Vis Sci Technol. 2016;5(1):3. eCollection 2016 Feb. Pubmed Abstract

Oliver VF, van Bysterveldt KA, Cadzow M, Steger B, Romano V, Markie D, Hewitt AW, Mackey DA, Willoughby CE, Sherwin T, Crosier PS, McGhee CN, Vincent AL. A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions. Ophthalmology. 2016;123(4):709-22. Pubmed Abstract

Bailey JN, Loomis SJ, Kang JH, Allingham RR, Gharahkhani P, Khor CC, Burdon KP, Aschard H, Chasman DI, Igo RP Jr, Hysi PG, Glastonbury CA, Ashley-Koch A, Brilliant M, Brown AA, Budenz DL, Buil A, Cheng CY, Choi H, Christen WG, Curhan G, De Vivo I, Fingert JH, Foster PJ, Fuchs C, Gaasterland D, Gaasterland T, Hewitt AW, Hu F, Hunter DJ, Khawaja AP, Lee RK, Li Z, Lichter PR, Mackey DA, McGuffin P, Mitchell P, Moroi SE, Perera SA, Pepper KW, Qi Q, Realini T, Richards JE, Ridker PM, Rimm E, Ritch R, Ritchie M, Schuman JS, Scott WK, Singh K, Sit AJ, Song YE, Tamimi RM, Topouzis F, Viswanathan AC, Verma SS, Vollrath D, Wang JJ, Weisschuh N, Wissinger B, Wollstein G, Wong TY, Yaspan BL, Zack DJ, Zhang K, Study EE; ANZRAG Consortium, Weinreb RN, Pericak-Vance MA, Small K, Hammond CJ, Aung T, Liu Y, Vithana EN, MacGregor S, Craig JE, Kraft P, Howell G, Hauser MA, Pasquale LR, Haines JL, Wiggs JL. Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nat Genet. 2016;48:189-94 Pubmed Abstract

2015

Fritsche LG, Igl W, Cooke Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HPN, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YTE, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GHS, Xiaowei Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Terrie E Kitchner, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel J-A, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze J-F, Igo RP Jr, Truitt B, Peachey NS, Meuer SM, Myers CW, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, Khan JC, Shahid H, Moore AT, McGrath JA, Laux R, Brantley MA Jr, Agarwal A, Ersoy L, Caramoy A, Langmann T, Saksens NTM, de Jong EK, Hoyng CB, Cain MS, Richardson AJ, Martin TM, Blangero J, Weeks DE, Dhillon B, van Duijn CM, Doheny KF, Romm J, Klaver CWC, Hayward C, Gorin MB, Klein ML, Baird PN, den Hollander AI, Fauser S, Yates JRW, Allikmets R, Wang JJ, Schaumberg DA, Klein BEK, Hagstrom SA, Chowers I, Lotery AL, Léveillard T, Zhang K, Brilliant MH, Hewitt AW, Swaroop A, Chew EY, Pericak-Vance MA, DeAngelis M, Stambolian D, Haines JL, Iyengar SK, Weber BHF, Abecasis GR, Heid IM.A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 2016;48:134-43. Pubmed Abstract

Cuellar-Partida G, Lu Y, Kho PF, Hewitt AW, Wichmann HE, Yazar S, Stambolian D, Bailey-Wilson JE, Wojciechowski R, Wang JJ, Mitchell P, Mackey DA, MacGregor S. Assessing the Genetic Predisposition of Education on Myopia: A Mendelian Randomization Study. Genet Epidemiol. 2016;40:66-72. Pubmed Abstract

Van Bergen NJ, Crowston JG, Craig JE, Burdon KP, Kearns LS, Sharma S, Hewitt AW, Mackey DA, Trounce IA. Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy. PLoS One. 2015;10:e0140919. Pubmed Abstract

Gharahkhani P, Burdon KP, Hewitt AW, Law MH, Souzeau E, Montgomery GW, Radford-Smith G, Mackey DA, Craig JE, MacGregor S. Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma. Invest Ophthalmol Vis Sci. 2015;56:5087-93. Pubmed Abstract

Cuellar-Partida G, Springelkamp H, Lucas SE, Yazar S, Hewitt AW, Iglesias AI, Montgomery GW, Martin NG, Pennell CE, van Leeuwen EM, Verhoeven VJ, Hofman A, Uitterlinden AG, Ramdas WD, Wolfs RC, Vingerling JR, Brown MA, Mills RA, Craig JE, Klaver CC, van Duijn CM, Burdon KP, MacGregor S, Mackey DA. WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness. Hum Mol Genet. 2015;24:5060-8. Pubmed Abstract

Souzeau E, Hayes M, Zhou T, Siggs OM, Ridge B, Awadalla MS, Smith JE, Ruddle JB, Elder JE, Mackey DA, Hewitt AW, Healey PR, Goldberg I, Morgan WH, Landers J, Dubowsky A, Burdon KP, Craig JE. Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss. JAMA Ophthalmol. 2015;133:826-33. Pubmed Abstract

Staffieri SE, Rose L, Chang A, De Roach JN, McLaren TL, Mackey DA, Hewitt AW, Lamey TM. Clinical and molecular characterisation of females affected by X-linked retinoschisis. Clin Experiment Ophthalmol. 2015;43:643-7. Pubmed Abstract

Li Z, Allingham RR, Nakano M, Jia L, Chen Y, Ikeda Y, Mani B, Chen LJ, Kee C, Garway-Heath DF, Sripriya S, Fuse N, Abu-Amero KK, Huang C, Namburi P, Burdon K, Perera SA, Gharahkhani P, Lin Y, Ueno M, Ozaki M, Mizoguchi T, Krishnadas SR, Osman EA, Lee MC, Chan AS, Tajudin LS, Do T, Goncalves A, Reynier P, Zhang H, Bourne R, Goh D, Broadway D, Husain R, Negi AK, Su DH, Ho CL, Blanco AA, Leung CK, Wong TT, Yakub A, Liu Y, Nongpiur ME, Han JC, Hon DN, Shantha B, Zhao B, Sang J, Zhang N, Sato R, Yoshii K, Panda-Jonas S, Ashley Koch AE, Herndon LW, Moroi SE, Challa P, Foo JN, Bei JX, Zeng YX, Simmons CP, Bich Chau TN, Sharmila PF, Chew M, Lim B, Tam PO, Chua E, Ng XY, Yong VH, Chong YF, Meah WY, Vijayan S, Seongsoo S, Xu W, Teo YY, Cooke Bailey JN, Kang JH, Haines JL, Cheng CY, Saw SM, Tai ES; ICAARE-Glaucoma Consortium; NEIGHBORHOOD Consortium, Richards JE, Ritch R, Gaasterland DE, Pasquale LR, Liu J, Jonas JB, Milea D, George R, Al-Obeidan SA, Mori K, Macgregor S, Hewitt AW, Girkin CA, Zhang M, Sundaresan P, Vijaya L, Mackey DA, Wong TY, Craig JE, Sun X, Kinoshita S, Wiggs JL, Khor CC, Yang Z, Pang CP, Wang N, Hauser MA, Tashiro K, Aung T, Vithana EN. A common variant near TGFBR3 is associated with primary open angle glaucoma. Hum Mol Genet. 2015;24:3880-92. Pubmed Abstract

Miyake M, Yamashiro K, Tabara Y, Suda K, Morooka S, Nakanishi H, Khor CC, Chen P, Qiao F, Nakata I, Akagi-Kurashige Y, Gotoh N, Tsujikawa A, Meguro A, Kusuhara S, Polasek O, Hayward C, Wright AF, Campbell H, Richardson AJ, Schache M, Takeuchi M, Mackey DA, Hewitt AW, Cuellar G, Shi Y, Huang L, Yang Z, Leung KH, Kao PY, Yap MK, Yip SP, Moriyama M, Ohno-Matsui K, Mizuki N, MacGregor S, Vitart V, Aung T, Saw SM, Tai ES, Wong TY, Cheng CY, Baird PN, Yamada R, Matsuda F; Nagahama Study Group, Yoshimura N. Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia. Nat Commun. 2015;6:6689. Pubmed Abstract

Souzeau E, Hayes M, Ruddle JB, Elder JE, Staffieri SE, Kearns LS, Mackey DA, Zhou T, Ridge B, Burdon KP, Dubowsky A, Craig JE. CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma. Mol Vis. 2015;21:160-4. eCollection 2015. Pubmed Abstract

Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, Uebe S, Harder JM, Chan AS, Lee MC, Burdon KP, Astakhov YS, Abu-Amero KK, Zenteno JC, Nilgün Y, Zarnowski T, Pakravan M, Safieh LA, Jia L, Wang YX, Williams S, Paoli D, Schlottmann PG, Huang L, Sim KS, Foo JN, Nakano M, Ikeda Y, Kumar RS, Ueno M, Manabe SI, Hayashi K, Kazama S, Ideta R, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Inoue K, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Aihara M, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Matsuda F, Yamashiro K, Gotoh N, Miyake M, Astakhov SY, Osman EA, Al-Obeidan SA, Owaidhah O, Al-Jasim L, Shahwan SA, Fogarty RA, Leo P, Yetkin Y, Oğuz Ç, Kanavi MR, Beni AN, Yazdani S, Akopov EL, Toh KY, Howell GR, Orr AC, Goh Y, Meah WY, Peh SQ, Kosior-Jarecka E, Lukasik U, Krumbiegel M, Vithana EN, Wong TY, Liu Y, Koch AE, Challa P, Rautenbach RM, Mackey DA, Hewitt AW, Mitchell P, Wang JJ, Ziskind A, Carmichael T, Ramakrishnan R, Narendran K, Venkatesh R, Vijayan S, Zhao P, Chen X, Guadarrama-Vallejo D, Cheng CY, Perera SA, Husain R, Ho SL, Welge-Luessen UC, Mardin C, Schloetzer-Schrehardt U, Hillmer AM, Herms S, Moebus S, Nöthen MM, Weisschuh N, Shetty R, Ghosh A, Teo YY, Brown MA, Lischinsky I; Blue Mountains Eye Study GWAS Team; Wellcome Trust Case Control Consortium 2, Crowston JG, Coote M, Zhao B, Sang J, Zhang N, You Q, Vysochinskaya V, Founti P, Chatzikyriakidou A, Lambropoulos A, Anastasopoulos E, Coleman AL, Wilson MR, Rhee DJ, Kang JH, May-Bolchakova I, Heegaard S, Mori K, Alward WL, Jonas JB, Xu L, Liebmann JM, Chowbay B, Schaeffeler E, Schwab M, Lerner F, Wang N, Yang Z, Frezzotti P, Kinoshita S, Fingert JH, Inatani M, Tashiro K, Reis A, Edward DP, Pasquale LR, Kubota T, Wiggs JL, Pasutto F, Topouzis F, Dubina M, Craig JE, Yoshimura N, Sundaresan P, John SW, Ritch R, Hauser MA, Khor CC. A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. Nat Genet. 2015;47:387-92 Corrigendum: 2015;47:689. Pubmed Abstract

Sanfilippo PG, Kearns LS, Wright P, Mackey DA, Hewitt AW. Current landscape of direct-to-consumer genetic testing and its role in ophthalmology. Clin Experiment Ophthalmol. 2015;43:578-90. Pubmed Abstract

Springelkamp H, Iglesias AI, Cuellar-Partida G, Amin N, Burdon KP, van Leeuwen EM, Gharahkhani P, Mishra A, van der Lee S, Hewitt AW, Rivadeneira F, Viswanathan AC, Wolfs RC, Martin NG, Ramdas WD, van Koolwijk LM, Pennell CE, Vingerling JR, Mountain JE, Uitterlinden AG, Hofman A, Mitchell P, Lemij HG, Wang JJ, Klaver CC, Mackey DA, Craig JE, van Duijn CM, MacGregor S. ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure. Hum Mol Genet. 2015;24:2689-99. Pubmed Abstract

Springelkamp H, Mishra A, Hysi PG, Gharahkhani P, Höhn R, Khor CC, Cooke Bailey JN, Luo X, Ramdas WD, Vithana E, Koh V, Yazar S, Xu L, Forward H, Kearns LS, Amin N, Iglesias AI, Sim KS, van Leeuwen EM, Demirkan A, van der Lee S, Loon SC, Rivadeneira F, Nag A, Sanfilippo PG, Schillert A, de Jong PT, Oostra BA, Uitterlinden AG, Hofman A; NEIGHBORHOOD Consortium, Zhou T, Burdon KP, Spector TD, Lackner KJ, Saw SM, Vingerling JR, Teo YY, Pasquale LR, Wolfs RC, Lemij HG, Tai ES, Jonas JB, Cheng CY, Aung T, Jansonius NM, Klaver CC, Craig JE, Young TL, Haines JL, MacGregor S, Mackey DA, Pfeiffer N, Wong TY, Wiggs JL, Hewitt AW, van Duijn CM, Hammond CJ. Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. Genet Epidemiol. 2015;39(3):207-16. Pubmed Abstract

Sanfilippo PG, Yazar S, Kearns L, Sherwin JC, Hewitt AW, Mackey DA. Distribution of astigmatism as a function of age in an Australian population. Acta Ophthalmol. 2015;93:e377-85. Pubmed Abstract

2014

Li Q, Wojciechowski R, Simpson CL, Hysi PG, Verhoeven VJ, Ikram MK, Höhn R, Vitart V, Hewitt AW, Oexle K, Mäkelä KM, MacGregor S, Pirastu M, Fan Q, Cheng CY, St Pourcain B, McMahon G, Kemp JP, Northstone K, Rahi JS, Cumberland PM, Martin NG, Sanfilippo PG, Lu Y, Wang YX, Hayward C, Polašek O, Campbell H, Bencic G, Wright AF, Wedenoja J, Zeller T, Schillert A, Mirshahi A, Lackner K, Yip SP, Yap MK, Ried JS, Gieger C, Murgia F, Wilson JF, Fleck B, Yazar S, Vingerling JR, Hofman A, Uitterlinden A, Rivadeneira F, Amin N, Karssen L, Oostra BA, Zhou X, Teo YY, Tai ES, Vithana E, Barathi V, Zheng Y, Siantar RG, Neelam K, Shin Y, Lam J, Yonova-Doing E, Venturini C, Hosseini SM, Wong HS, Lehtimäki T, Kähönen M, Raitakari O, Timpson NJ, Evans DM, Khor CC, Aung T, Young TL, Mitchell P, Klein B, van Duijn CM, Meitinger T, Jonas JB, Baird PN, Mackey DA, Wong TY, Saw SM, Pärssinen O, Stambolian D, Hammond CJ, Klaver CC, Williams C, Paterson AD, Bailey-Wilson JE, Guggenheim JA; The CREAM Consortium. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. Hum Genet. 2015;134:131-46. Pubmed Abstract

Awadalla MS, Fingert JH, Roos BE, Chen S, Holmes R, Graham SL, Chehade M, Galanopolous A, Ridge B, Souzeau E, Zhou T, Siggs OM, Hewitt AW, Mackey DA, Burdon KP, Craig JE. Copy number variations of TBK1 in Australian patients with primary open angle glaucoma. Am J Ophthalmol. 2015;159:124-130.e1. Pubmed Abstract

Sanfilippo PG, Wilkinson CH, Ruddle JB, Zhu G, Martin NG, Hewitt AW, Mackey DA. Don't it make your brown eyes blue? A comparison of iris colour across latitude in Australian twins. Clin Exp Optom. 2015;98(2):172-6. Pubmed Abstract

Yazar S, Gooden GE, Mackey DA, Hewitt AW. Benchmarking undedicated cloud computing providers for analysis of genomic datasets. PLoS One. 2014;9:e108490. Pubmed Abstract

Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor CC, Loomis SJ, Bailey JN, Gibson J, Thorleifsson G, Janssen SF, Luo X, Ramdas WD, Vithana E, Nongpiur ME, Montgomery GW, Xu L, Mountain JE, Gharahkhani P, Lu Y, Amin N, Karssen LC, Sim KS, van Leeuwen EM, Iglesias AI, Verhoeven VJ, Hauser MA, Loon SC, Despriet DD, Nag A, Venturini C, Sanfilippo PG, Schillert A, Kang JH, Landers J, Jonasson F, Cree AJ, van Koolwijk LM, Rivadeneira F, Souzeau E, Jonsson V, Menon G; Blue Mountains Eye Study-GWAS group, Weinreb RN, de Jong PT, Oostra BA, Uitterlinden AG, Hofman A, Ennis S, Thorsteinsdottir U, Burdon KP; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2 (WTCCC2), Spector TD, Mirshahi A, Saw SM, Vingerling JR, Teo YY, Haines JL, Wolfs RC, Lemij HG, Tai ES, Jansonius NM, Jonas JB, Cheng CY, Aung T, Viswanathan AC, Klaver CC, Craig JE, Macgregor S, Mackey DA, Lotery AJ, Stefansson K, Bergen AA, Young TL, Wiggs JL, Pfeiffer N, Wong TY, Pasquale LR, Hewitt AW, van Duijn CM, Hammond CJ; Blue Mountains Eye Study-GWAS group; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2 WTCCC2. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun. 2014;5:4883. Pubmed Abstract

Hysi PG, Cheng CY, Springelkamp H, Macgregor S, Bailey JN, Wojciechowski R, Vitart V, Nag A, Hewitt AW, Höhn R, Venturini C, Mirshahi A, Ramdas WD, Thorleifsson G, Vithana E, Khor CC, Stefansson AB, Liao J, Haines JL, Amin N, Wang YX, Wild PS, Ozel AB, Li JZ, Fleck BW, Zeller T, Staffieri SE, Teo YY, Cuellar-Partida G, Luo X, Allingham RR, Richards JE, Senft A, Karssen LC, Zheng Y, Bellenguez C, Xu L, Iglesias AI, Wilson JF, Kang JH, van Leeuwen EM, Jonsson V, Thorsteinsdottir U, Despriet DD, Ennis S, Moroi SE, Martin NG, Jansonius NM, Yazar S, Tai ES, Amouyel P, Kirwan J, van Koolwijk LM, Hauser MA, Jonasson F, Leo P, Loomis SJ, Fogarty R, Rivadeneira F, Kearns L, Lackner KJ, de Jong PT, Simpson CL, Pennell CE, Oostra BA, Uitterlinden AG, Saw SM, Lotery AJ, Bailey-Wilson JE, Hofman A, Vingerling JR, Maubaret C, Pfeiffer N, Wolfs RC, Lemij HG, Young TL, Pasquale LR, Delcourt C, Spector TD, Klaver CC, Small KS, Burdon KP, Stefansson K, Wong TY; BMES GWAS Group; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2, Viswanathan A, Mackey DA, Craig JE, Wiggs JL, van Duijn CM, Hammond CJ, Aung T. Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. Nat Genet. 2014;46:1126-30. Pubmed Abstract

Gharahkhani P, Burdon KP, Fogarty R, Sharma S, Hewitt AW, Martin S, Law MH, Cremin K, Bailey JN, Loomis SJ, Pasquale LR, Haines JL, Hauser MA, Viswanathan AC, McGuffin P, Topouzis F, Foster PJ, Graham SL, Casson RJ, Chehade M, White AJ, Zhou T, Souzeau E, Landers J, Fitzgerald JT, Klebe S, Ruddle JB, Goldberg I, Healey PR; Wellcome Trust Case Control Consortium 2; NEIGHBORHOOD Consortium, Mills RA, Wang JJ, Montgomery GW, Martin NG, Radford-Smith G, Whiteman DC, Brown MA, Wiggs JL, Mackey DA, Mitchell P, MacGregor S, Craig JE. Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. Nat Genet. 2014;46:1120-5. Pubmed Abstract

Yazar S, Mackey DA. Counting on caveolin for clues in glaucoma. Clin Experiment Ophthalmol. 2014;42:511-2. Pubmed Abstract

Mackey DA, Hewitt AW. Genome-wide association study success in ophthalmology. Curr Opin Ophthalmol. 2014;25:386-93. Pubmed Abstract

Sanfilippo PG, Chu BS, Bigault O, Kearns LS, Boon MY, Young TL, Hammond CJ, Hewitt AW, Mackey DA. What is the appropriate age cut-off for cycloplegia in refraction? Acta Ophthalmol. 2014;92:e458-62. Pubmed Abstract

Nag A, Venturini C, Small KS, Young TL, Viswanathan AC, Mackey DA, Hysi PG, Hammond CJ. A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort. Hum Mol Genet 2014;23:3343-8. Pubmed Abstract

2013

Oliver VF, Franchina M, Jaffe AE, Branham KE, Othman M, Heckenlively JR, Swaroop A, Campochiaro B, Vote BJ, Craig JE, Saffery R, Mackey DA, Qian J, Zack DJ, Hewitt AW, Merbs SL. Hypomethylation of the IL17RC promoter in peripheral blood leukocytes is not a hallmark of age-related macular degeneration. Cell Rep. 2013;5:1527-35. Pubmed Abstract

Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet. 2013;93:1143-50. Pubmed Abstract

Hysi PG, Mahroo OA, Cumberland P, Wojciechowski R, Williams KM, Young TL, Mackey DA, Rahi JS, Hammond CJ. Common mechanisms underlying refractive error identified in functional analysis of gene lists from genome-wide association study results in 2 European British cohorts. JAMA Ophthalmol. 2014;132:50-6. Pubmed Abstract

Dave A, Laurie K, Staffieri SE, Taranath D, Mackey DA, Mitchell P, Wang JJ, Craig JE, Burdon KP, Sharma S. Mutations in the EPHA2 Gene are a major contributor to inherited cataracts in South-Eastern Australia. PLoS One. 2013;8(8):e72518. Pubmed Abstract

Cheng C-Y, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V, MacGregor S, Verhoeven VJM, Barathi VA, Liao J, Hysi PG, Bailey-Wilson JE, Pourcain BS, Kemp JP, McMahon G, Timpson NJ, Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E, Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilso JF, Pennell CE, van Duijn CM, de Jong PTVM, Vingerling JR, Zhou X, Chen P, Li R, Tay W-T, Zheng Y, Chew M, Consortium for Refractive Error and Myopia, Burdon KP, Craig JE, Iyengar SK, Igo RP Jr., Lass, JH Jr., The Fuchs' Genetics Multi-Center Study Group, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J, Simpson CL, Wojciechowski R, Höhn R, Mirshahi A, Zeller T, Pfeiffer N, Lackner KJ, Wellcome Trust Case Control Consortium 2, Bettecken T, Meitinger T, Oexle K, Pirastu M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini SM, Paterson AD, The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions, and Complications Research Group, Makela K-M, Lehtimaki T, Kahonen M, Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap MKH, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai E-S, Fan Q, Xu L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A, Uitterlinden AG, Bencic G, Khor C-C, Forward H, Pärssinen O, Mitchell P, Rivadeneira F, Hewitt AW, Williams C, Oostra BA, Teo Y-Y, Hammond CJ, Stambolian D, Mackey DA, Klaver CCW, Wong T-Y, Saw S-M, Baird PN. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. Am J Hum Genet. 2013;93:264-277. Pubmed Abstract

Lim SH, Germain ES, Tran-Viet KN, Staffieri S, Marino M, Dollfus PH, Nading EB, Crowe S, Gole G, Perdomo-Trujillo Y, Haybittel M, Elder J, Pelletier V, Traboulsi E, Mackey D, Young TL. Sequencing Analysis of the ATOH7 Gene in Individuals with Optic Nerve Hypoplasia. Ophthalmic Genet. 2014;35:1-6. Pubmed Abstract

The Blue Mountains Eye Study (BMES) and The Wellcome Trust Case Control Consortium 2 (WTCCC2). Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus. Hum Mol Genet. 2013;22:4653-60. Pubmed Abstract

Sim X, Jensen RA, Ikram MK, Cotch MF, Li X, Macgregor S, Xie J, Smith AV, Boerwinkle E, Mitchell P, Klein R, Klein BE, Glazer NL, Lumley T, McKnight B, Psaty BM, de Jong PT, Hofman A, Rivadeneira F, Uitterlinden AG, van Duijn CM, Aspelund T, Eiriksdottir G, Harris TB, Jonasson F, Launer LJ; Wellcome Trust Case Control Consortium 2, Attia J, Baird PN, Harrap S, Holliday EG, Inouye M, Rochtchina E, Scott RJ, Viswanathan A; Global BPGen Consortium, Li G, Smith NL, Wiggins KL, Kuo JZ, Taylor KD, Hewitt AW, Martin NG, Montgomery GW, Sun C, Young TL, Mackey DA, van Zuydam NR, Doney AS, Palmer CN, Morris AD, Rotter JI, Tai ES, Gudnason V, Vingerling JR, Siscovick DS, Wang JJ, Wong TY. Genetic Loci for retinal arteriolar microcirculation. PLoS One. 2013;8:e65804. [IF: 4.411] Pubmed Abstract

Yazar S, Mishra A, Ang W, Kearns LS, Mountain JA, Pennell C, Montgomery GW, Young TL, Hammond CJ, Macgregor S, Mackey DA, Hewitt AW. Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: Results of a genome-wide association study. Mol Vis. 2013;19:1238-46. Pubmed Abstract

Nag A, Venturini C, Hysi PG, Arno M, Aldecoa-Otalora Astarloa E, Macgregor S, Hewitt AW, Young TL, Mitchell P, Viswanathan AC, Mackey DA, Hammond CJ. Copy number variation at chromosome 5q21.2 is associated with intra-ocular pressure. Invest Ophthalmol Vis Sci. 2013:54;3607-3612. Pubmed Abstract

Sherwin JC, Mackey DA. Update on the epidemiology and genetics of myopic refractive error. Expert Rev Ophthalmol. 2013;8:63-87.

Souzeau E, Burdon KP, Dubowsky A, Grist S, Usher B, Fitzgerald JT, Crawford A, Hewitt AW, Goldberg I, Mills RA, Ruddle JB, Landers J, Mackey DA, Craig JE. Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry. Ophthalmology. 2013;120:1135-43. Pubmed Abstract

Hawthorne F, Feng S, Metlapally R, Li YJ, Tran-Viet KN, Guggenheim JA, Malecaze F, Calvas P, Rosenberg T, Mackey DA, Venturini C, Hysi PG, Hammond CJ, Young TL. Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR and PPFIA2. Invest Ophthalmol Vis Sci. 2013;54:2076-86. Pubmed Abstract

Verhoeven VJ, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Höhn R, Macgregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GH, McMahon G, Kemp JP, Pourcain BS, Simpson CL, Mäkelä KM, Lehtimäki T, Kähönen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Pärssinen O, Wedenoja J, Yip SP, Ho DW, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BE, Klein R, Haller T, Metspalu A, Khor CC, Tai ES, Aung T, Vithana E, Tay WT, Barathi VA; Consortium for Refractive Error and Myopia (CREAM), Chen P, Li R, Liao J, Zheng Y, Ong RT, Döring A; The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group, Evans DM, Timpson NJ, Verkerk AJ, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W; Wellcome Trust Case Control Consortium 2 (WTCCC2), Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasathian S, Jr RP, Lass JH, Chew E, Iyengar SK; The Fuchs' Genetics Multi-Center Study Group, Gorgels TG, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Müller C, Uitterlinden AG, Rivadeneira F, Vingerling JR, Hofman A, Oostra BA, Amin N, Bergen AA, Teo YY, Rahi JS, Vitart V, Williams C, Baird PN, Wong TY, Oexle K, Pfeiffer N, Mackey DA, Young TL, van Duijn CM, Saw SM, Bailey-Wilson JE, Stambolian D, Klaver CC, Hammond CJ. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet. 2013;45:314-8. Corrigendum: Nat Genet.¬†2013;45:712. Pubmed Abstract

Ruddle JB, Staffieri SE, Crowston JG, Sherwin JC, Mackey DA. Incidence and predictors of glaucoma following surgery for congenital cataract in the first year of life in Victoria, Australia. Clin Experiment Ophthalmol. 2013;41:653-61. Pubmed Abstract

Lopes MC, Hysi PG, Verhoeven VJ, Macgregor S, Hewitt AW, Montgomery G, Cumberland P, Vingerling JR, Young T, van Duijn CM, Oostra B, Uitterlinden AG, Rahi JS, Mackey DA, Klaver CC, Andrew T, Hammond CJ. Identification of a candidate gene for astigmatism. Invest Ophthalmol Vis Sci. 2013;54:1260-7. Pubmed Abstract

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. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet. 2013;45:155-63. Pubmed Abstract

2012

De Roach JN, McLaren TL, Paterson RL, O'Brien EC, Hoffmann L, Mackey DA, Hewitt AW, Lamey IM. Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank. Clin Experiment Ophthalmol. 2013;41:476-483. Pubmed Abstract

Wiggs JL, Hewitt AW, Fan BJ, Wang DY, Figueiredo Sena DR, O'Brien C, Realini A, Craig JE, Dimasi DP, Mackey DA, Haines JL, Pasquale LR. The p53 Codon 72 PRO/PRO genotype may be associated with initial central visual field defects in Caucasians with Primary Open Angle Glaucoma. PLoS One. 2012;7(9):e45613. Pubmed Abstract

Mishra A, Yazar S, Hewitt AW, Mountain JA, Ang W, Pennell CE, Martin NG, Montgomery GW, Hammond CJ, Young TL, Macgregor S, Mackey DA. Genetic variants near PDGFRA are associated with corneal curvature in Australians. Invest Ophthalmol Vis Sci. 2012;53:7131-6. Pubmed Abstract

Sanfilippo PG, Hammond CJ, Staffieri SE, Kearns LS, Melissa Liew SH, Barbour JM, Hewitt AW, Ge D, Snieder H, Mackinnon JR, Brown SA, Lorenz B, Spector TD, Martin NG, Wilmer JB, Mackey DA. Heritability of Strabismus: Genetic influence is specific to eso-deviation and independent of refractive error. Twin Res Hum Genet. 2012 Oct;15:624-30. Pubmed Abstract

Franchina M, Toniolo J, Mackey DA, Hewitt AW. Google-based search of common blinding diseases: a reflection of public concerns. Letter. Br J Ophthalmol. 2012;96:1444-5. Pubmed Abstract

Dimasi DP, Burdon KP, Hewitt AW, Fitzgerald J, Wang JJ, Healey PR, Mitchell P, Mackey DA, Craig JE. Genetic Investigation into the Endophenotypic Status of Central Corneal Thickness and Optic Disc Parameters in Relation to Open-Angle Glaucoma. Am J Ophthalmol. 2012;154:833-842.e2. Pubmed Abstract

Sharma S, Burdon KP, Chidlow G, Klebe S, Crawford A, Dimasi DP, Dave A, Martin S, Javadiyan S, Wood JPM, Casson R, Danoy P, Griggs K, Hewitt AW, Landers J, Mitchell P, Mackey DA, Craig JE. Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterisation of the protein in the eye. Invest Ophthalmol Vis Sci. 2012;53:4917-25. [IF 3.597] Pubmed Abstract

Mackey DA. Your time starts now - translation time lines for major ophthalmic discoveries. Med J Australia. 2012;196:672-674. [IF:2.813] Pubmed Abstract

Verhoeven VJ, Hysi PG, Saw SM, Vitart V, Mirshahi A, Guggenheim JA, Cotch MF, Yamashiro K, Baird PN, Mackey DA, Wojciechowski R, Ikram MK, Hewitt AW, Duggal P, Janmahasatian S, Khor CC, Fan Q, Zhou X, Young TL, Tai ES, Goh LK, Li YJ, Aung T, Vithana E, Teo YY, Tay W, Sim X, Rudan I, Hayward C, Wright AF, Polasek O, Campbell H, Wilson JF, Fleck BW, Nakata I, Yoshimura N, Yamada R, Matsuda F, Ohno-Matsui K, Nag A, McMahon G, Pourcain BS, Lu Y, Rahi JS, Cumberland PM, Bhattacharya S, Simpson CL, Atwood LD, Li X, Raffel LJ, Murgia F, Portas L, Despriet DD, van Koolwijk LM, Wolfram C, Lackner KJ, Tönjes A, Mägi R, Lehtimäki T, Kähönen M, Esko T, Metspalu A, Rantanen T, Pärssinen O, Klein BE, Meitinger T, Spector TD, Oostra BA, Smith AV, de Jong PT, Hofman A, Amin N, Karssen LC, Rivadeneira F, Vingerling JR, Eiríksdóttir G, Gudnason V, Döring A, Bettecken T, Uitterlinden AG, Williams C, Zeller T, Castagné R, Oexle K, van Duijn CM, Iyengar SK, Mitchell P, Wang JJ, Höhn R, Pfeiffer N, Bailey-Wilson JE, Stambolian D, Wong TY, Hammond CJ, Klaver CC. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. Hum Genet. 2012;131:1467-80. Pubmed Abstract

Ma Y, Kawasaki R, Dobson LP, Ruddle JB, Kearns LS, Wong TY, Mackey DA. Quantitative Analysis of Retinal Vessel Attenuation in Eyes with Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2012;53:4306-14. Pubmed Abstract

Edwards TL, Burt BO, Black GC, Perveen R, Kearns LS, Staffieri SE, Toomes C, Buttery R, Mackey DA. Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations. Clin Experiment Ophthalmol. 2012;40:476-483. Pubmed Abstract

van Koolwijk LM, Ramdas WD, Ikram MK, Jansonius NM, Pasutto F, Hysi PG, Macgregor S, Janssen SF, Hewitt AW, Viswanathan AC, Ten Brink JB, Hosseini SM, Amin N, Despriet DD, Willemse-Assink JJ, Kramer R, Rivadeneira F, Struchalin M, Aulchenko YS, Weisschuh N, Zenkel M, Mardin CY, Gramer E, Welge-Lüssen U, Montgomery GW, Carbonaro F, Young TL; The DCCT/EDIC Research Group, Bellenguez C, McGuffin P, Foster PJ, Topouzis F, Mitchell P, Wang JJ, Wong TY, Czudowska MA, Hofman A, Uitterlinden AG, Wolfs RC, de Jong PT, Oostra BA, Paterson AD; Wellcome Trust Case Control Consortium 2, Mackey DA, Bergen AA, Reis A, Hammond CJ, Vingerling JR, Lemij HG, Klaver CC, van Duijn CM. Common genetic determinants of intraocular pressure and Primary Open-Angle Glaucoma. PLoS Genet. 2012;8:e1002611. Pubmed Abstract

Abbott D, Li YJ, Guggenheim JA, Metlapally R, Malecaze F, Calvas P, Rosenberg T, Paget S, Zayats T, Mackey DA, Feng S, Young TL. An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error. Mol Vis. 2012;18:720-9. Pubmed Abstract

Burdon KP, Crawford A, Casson RJ, Hewitt AW, Landers J, Danoy P, Mackey DA, Mitchell P, Healey PR, Craig JE. Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma. Ophthalmology. 2012;119:1539-45. Pubmed Abstract

Ng W, Pasutto F, Bardakjian T, Wilson M, Watson G, Schneider A, Mackey D, Grigg J, Zenker M, Jamieson R. A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family. Clin Genet. 2013;83:162-168. Pubmed Abstract

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, Hardcastle1 AJ. X-Linked Megalocornea caused by mutations in CHRDL1 identifies an essential role for Ventroptin in anterior segment development. Am J Hum Genet. 2012;90:1-13. Pubmed Abstract