Number of items: 316

Journal Article
Mackey, DA and Ong, JS and MacGregor, S and Whiteman, DC and Craig, JE and Lopez Sanchez, MIG and Kearns, LS and Staffieri, SE and Clarke, L and McGuinness, MB and Meteoukki, W and Samuel, S and Ruddle, JB and Chen, C and Fraser, CL and Harrison, J and Howell, N and Hewitt, AW, Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?, American Journal of Human Genetics, 110, (1) pp. 170-176. ISSN 0002-9297 (2023) [Refereed Article]
Lee, SSY and Mackey, DA and Sanfilippo, PG and Hewitt, AW and Craig, JE, In Utero exposure to smoking and alcohol, and passive smoking during childhood: effect on the Retinal Nerve Fibre Layer in young adulthood, Ophthalmic Epidemiology, 29, (5) pp. 507-514. ISSN 1744-5086 (2022) [Refereed Article]
Hollitt, GL and Siggs, OM and Ridge, B and Keane, MC and Mackey, DA and Macgregor, S and Hewitt, AW and Craig, JE and Hewitt, A, Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals, Translational Vision Science and Technology, 11, (10) Article 38. ISSN 2164-2591 (2022) [Refereed Article]
Hollitt, GL and Siggs, OM and Ridge, B and Keane, MC and Mackey, DA and MacGregor, S and Hewitt, AW and Craig, JE and Hewitt, A, Attitudes towards Polygenic Risk Testing in individuals with Glaucoma, Ophthalmology Glaucoma, 5, (4) pp. 436-446. ISSN 2589-4196 (2022) [Refereed Article]
Liu, Q and Davis, J and Han, X and Mackey, DA and MacGregor, S and Craig, JE and Si, L and Hewitt, AW, Cost-effectiveness of polygenic risk profiling for primary open-angle glaucoma in the United Kingdom and Australia, Eye (London) pp. 1-9. ISSN 1476-5454 (2022) [Refereed Article]
Souzeau, E and Siggs, OM and Mullany, S and Schmidt, JM and Hassall, MM and Dubowsky, A and Chappell, A and Breen, J and Bea, H and Nicholl, J and Hadler, J and Kearns, LS and Staffieri, SE and Hewitt, AW and Mackey, DA and Gupta, A and Burdon, KP and Klebe, S and Craig, JE and Mills, RA, Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort, Molecular genetics and genomic medicine, 10, (10) Article 2023. ISSN 2324-9269 (2022) [Refereed Article]
Young, TL and Whisenhunt, KN and LaMartina, SM and Hewitt, AW and Mackey, DA and Hewitt, A, Sonic Hedgehog Intron Variant associated with an unusual Pediatric Cortical Cataract, Investigative Ophthalmology and Visual Science, 63, (6) Article 25. ISSN 1552-5783 (2022) [Refereed Article]
Burdon, KP and Graham, P and Hadler, J and Hulleman, JD and Pasutto, F and Boese, EA and Craig, JE and Fingert, JH and Hewitt, AW and Siggs, OM and Whisenhunt, K and Young, TL and Mackey, DA and Dubowsky, A and Souzeau, E, Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel, Human Mutation, 43, (12) pp. 2170-2186. ISSN 1059-7794 (2022) [Refereed Article]
Dyer, KIC and Sanfilippo, PG and Yazar, S and Craig, JE and Hewitt, AW and Newnham, JP and Mackey, DA and Hewitt, A, The relationship between fetal growth and retinal nerve fiber layer thickness in a cohort of young adults, Translational Vision Science and Technology, 11, (7) Article 8. ISSN 2164-2591 (2022) [Refereed Article]
Siggs, OM and Han, X and Qassim, A and Souzeau, E and Kuruvilla, S and Marshall, HN and Mullany, S and Mackey, DA and Hewitt, AW and Gharahkhani, P and MacGregor, S and Craig, JE, Association of monogenic and polygenic risk with the prevalence of open-angle glaucoma, JAMA Ophthalmology, 139, (9) pp. 1023-1028. ISSN 2168-6165 (2021) [Refereed Article]
Lee, SSY and Beales, DJ and Chen, FK and Yazar, S and Alonso-Caneiro, D and Mackey, DA, Associations between seven-year C-reactive protein trajectory or pack-years smoked with choroidal or retinal thicknesses in young adults, Scientific Reports, 11, (1) Article 6147. ISSN 2045-2322 (2021) [Refereed Article]
Knight, LSW and Ruddle, JB and Taranath, DA and Goldberg, I and Smith, JEH and Gole, G and Chiang, MY and Willett, F and D'Mellow, G and Breen, J and Qassim, A and Mullany, S and Elder, JE and Vincent, AL and Staffieri, SE and Kearns, LS and Mackey, DA and Luu, S and Siggs, OM and Souzeau, E and Craig, JE, Childhood and early onset glaucoma classification and genetic profile in a large Australasian disease registry, Ophthalmology pp. 1-12. ISSN 0161-6420 (2021) [Refereed Article]
Lopez Sanchez, MIG and Kearns, LS and Staffieri, SE and Clarke, L and McGuinness, MB and Meteoukki, W and Samuel, S and Ruddle, JB and Chen, C and Fraser, CL and Harrison, J and Hewitt, AW and Howell, N and Mackey, DA, Establishing risk of vision loss in Leber hereditary optic neuropathy, American Journal of Human Genetics, 108, (11) pp. 2159-2170. ISSN 0002-9297 (2021) [Refereed Article]
Jong, M and Jonas, JB and Wolffsohn, JS and Berntsen, DA and Cho, P and Clarkson-Townsend, D and Flitcroft, DI and Gifford, KL and Haarman, AEG and Pardue, MT and Richdale, K and Sankaridurg, P and Tedja, MS and Wildsoet, CF and Bailey-Wilson, JE and Guggenheim, JA and Hammond, CJ and Kaprio, J and MacGregor, S and Mackey, DA and Musolf, AM and Klaver, CCW and Verhoeven, VJM and Vitart, V and Smith, EL, IMI 2021 yearly digest, Investigative Ophthalmology and Visual Science, 62, (5) pp. 1-22. ISSN 0146-0404 (2021) [Refereed Article]
Lee, SSY and Lingham, G and Alonso-Caneiro, D and Charng, J and Chen, FK and Yazar, S and Mackey, DA, Macular thickness profile and its association with best-corrected visual acuity in healthy young adults, Translational Vision Science and Technology, 10, (3) pp. 1-11. ISSN 2164-2591 (2021) [Refereed Article]
Lee, S-SY and McVeigh, J and Straker, L and Howie, EK and Yazar, S and Haynes, A and Green, DJ and Hewitt, AW and Mackey, DA, Physical activity and cardiovascular fitness during childhood and adolescence: Association with retinal nerve fibre layer thickness in young adulthood, Journal of Glaucoma, 30, (9) pp. 813-819. ISSN 1057-0829 (2021) [Refereed Article]
Chan, E and Chong, EW and Lingham, G and Stevenson, LJ and Sanfilippo, PG and Hewitt, AW and Mackey, DA and Yazar, S, Prevalence of Keratoconus Based on Scheimpflug Imaging: The Raine Study, Ophthalmology, 128, (4) pp. 515-521. ISSN 0161-6420 (2021) [Refereed Article]
Siggs, OM and Souzeau, E and Taranath, DA and Dubowsky, A and Chappell, A and Zhou, T and Javadiyan, S and Nicholl, J and Kearns, LS and Staffieri, SE and Narita, A and Smith, JEH and Pater, J and Hewitt, AW and Ruddle, JB and Elder, JE and Mackey, DA and Burdon, KP and Craig, JE, Biallelic CPAMD8 variants are a frequent cause of childhood and juvenile open-angle glaucoma, Ophthalmology, 127, (6) pp. 758-766. ISSN 0161-6420 (2020) [Refereed Article]
Lee, SSY and Lingham, G and Alonso-Caneiro, D and Chen, FK and Yazar, S and Hewitt, AW and Mackey, DA, Choroidal thickness in young adults and its association with visual acuity, American Journal of Ophthalmology, 214 pp. 40-51. ISSN 0002-9394 (2020) [Refereed Article]
Lee, SSY and Sanfilippo, PG and Yazar, S and Pennell, CE and Hewitt, AW and Wang, CA and Martin, WN and Mackey, DA, Do levels of stress markers influence the retinal nerve fiber layer thickness in young adults?, Journal of Glaucoma, 29, (7) pp. 587-592. ISSN 1057-0829 (2020) [Refereed Article]
Fan, Q and Pozarickij, A and Tan, NYQ and Guo, X and Verhoeven, VJM and Vitart, V and Guggenheim, JA and Miyake, M and Tideman, JWL and Khawaja, AP and Zhang, L and MacGregor, S and Hohn, R and Chen, P and Biino, G and Wedenoja, J and Saffari, SE and Tedja, MS and Xie, J and Lanca, C and Wang, YX and Sahebjada, S and Mazur, J and Mirshahi, A and Martin, NG and Yazar, S and Pennell, CE and Yap, M and Haarman, AEG and Enthoven, CA and Polling, JR and Hewitt, AW and Jaddoe, VWV and van Duijn, CM and Hayward, C and Polasek, O and Tai, E-S and Yoshikatsu, H and Hysi, PG and Young, TL and Tsujikawa, A and Wang, JJ and Mitchell, P and Pfeiffer, N and Parssinen, O and Foster, PJ and Fossarello, M and Yip, SP and Williams, C and Hammond, CJ and Jonas, JB and He, M and Mackey, DA and Wong, T-Y and Klaver, CCW and Saw, S-M and Baird, PN and Cheng, C-Y, Consortium for Refractive Error and Myopia (CREAM), UK Biobank Eye and Vision Consortium, Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error, Communications Biology, 3, (1) Article 133. ISSN 2399-3642 (2020) [Refereed Article]
Lingham, G and Mackey, DA and Sanfilippo, PG and Mountain, JA and Hewitt, AW and Newnham, JP and Yazar, S, Influence of prenatal environment and birth parameters on amblyopia, strabismus, and anisometropia, Journal of AAPOS, 24, (2) pp. 74.e1-74.e7. ISSN 1091-8531 (2020) [Refereed Article]
Craig, JE and Han, X and Qassim, A and Hassall, M and Cooke Bailey, JN and Kinzy, TG and Khawaja, AP and An, J and Marshall, H and Gharahkhani, P and Igo, RP and Graham, SL and Healey, PR and Ong, JS and Zhou, T and Siggs, O and Law, MH and Souzeau, E and Ridge, B and Hysi, PG and Burdon, KP and Mills, RA and Landers, J and Ruddle, JB and Agar, A and Galanopoulos, A and White, AJR and Willoughby, CE and Andrew, NH and Best, S and Vincent, AL and Goldberg, I and Radford-Smith, G and Martin, NG and Montgomery, GW and Vitart, V and Hoehn, R and Wojciechowski, R and Jonas, JB and Aung, T and Pasquale, LR and Cree, AJ and Sivaprasad, S and Vallabh, NA and Viswanathan, AC and Pasutto, F and Haines, JL and Klaver, CCW and van Duijn, CM and Casson, RJ and Foster, PJ and Khaw, PT and Hammond, CJ and Mackey, DA and Mitchell, P and Lotery, AJ and Wiggs, JL and Hewitt, AW and MacGregor, S, NEIGHBORHOOD consortium and UK Biobank Eye and Vision Consortium, Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression, Nature Genetics, 52, (2) pp. 160-166. ISSN 1061-4036 (2020) [Refereed Article]
Lee, SS-Y and Sanfilippo, PG and Hunter, M and Yazar, S and James, A and Mackey, DA, Optic disc measures in obstructive sleep apnea: a community-based study of middle-aged and older adults, Journal of Glaucoma, 29, (5) pp. 337-343. ISSN 1057-0829 (2020) [Refereed Article]
Lopez Sanchez, MIG and Van Bergen, NJ and Kearns, LS and Ziemann, M and Liang, H and Hewitt, AW and Mackey, DA and Trounce, IA, OXPHOS bioenergetic compensation does not explain disease penetrance in Leber hereditary optic neuropathy, Mitochondrion, 54 pp. 113-121. ISSN 1567-7249 (2020) [Refereed Article]
Whitman, MC and Di Gioia, SA and Chan, W-M and Gelber, A and Pratt, BM and Bell, JL and Collins, TE and Knowles, JA and Armoskus, C and Pato, M and Pato, C and Shaaban, S and Staffieri, S and MacKinnon, S and Maconachie, GDE and Elder, JE and Traboulsi, EI and Gottlob, I and Mackey, DA and Hunter, DG and Engle, EC, for the Strabismus Genetics Research Consortium, Recurrent rare copy number variants increase risk for esotropia, Investigative Ophthalmology & Visual Science, 61, (10) Article 22. ISSN 1552-5783 (2020) [Refereed Article]
Lee, SSY and Mackey, DA and Lingham, G and Crewe, JM and Richards, MD and Chen, FK and Charng, J and Ng, F and Flitcroft, I and Loughman, JJ and Azuara-Blanco, A and Logan, NS and Hammond, CJ and Chia, A and Truong, TT and Clark, A, Western Australia Atropine for the Treatment of Myopia (WA-ATOM) study: Rationale, methodology and participant baseline characteristics, Clinical and Experimental Ophthalmology, 48 pp. 569-579. ISSN 1442-6404 (2020) [Refereed Article]
Dave, A and Craig, JE and Skrzypiec, K and Quinn, S and Barnes, M and Di Girolamo, N and Mackey, DA and Burdon, KP and de Iongh, RU and Sharma, S, Epha2 genotype influences ultraviolet radiation induced cataract in mice, Experimental Eye Research, 188 Article 107806. ISSN 0014-4835 (2019) [Refereed Article]
Lee, SSY and McArdle, N and Sanfilippo, PG and Yazar, S and Eastwood, PR and Hewitt, AW and Li, Q and Mackey, DA, Associations between optic disc measures and obstructive sleep apnea in young adults, Ophthalmology, 126, (10) pp. 1372-1384. ISSN 0161-6420 (2019) [Refereed Article]
Han, X and Qassim, A and An, J and Marshall, H and Zhou, T and Ong, J-S and Hassall, MM and Hysi, PG and Foster, PJ and Khaw, PT and Mackey, DA and Gharahkhani, P and Khawaja, AP and Hewitt, AW and Craig, JE and MacGregor, S, Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology, Human Molecular Genetics, 28, (21) pp. 3680-3690. ISSN 0964-6906 (2019) [Refereed Article]
Tedja, MS and Haarman, AEG and Meester-Smoor, MA and Kaprio, J and Mackey, DA and Guggenheim, JA and Hammond, CJ and Verhoeven, VJM and Klaver, CCW, CREAM Consortium, IMI- Myopia genetics report, Investigative Ophthalmology & Visual Science, 60, (3) pp. M89-M105. ISSN 1552-5783 (2019) [Refereed Article]
Siggs, OM and Souzeau, E and Pasutto, F and Dubowsky, A and Smith, JEH and Taranath, D and Pater, J and Rait, JL and Narita, A and Mauri, L and Del Longo, A and Reis, A and Chappell, A and Kearns, LS and Staffieri, SE and Elder, JE and Ruddle, JB and Hewitt, AW and Burdon, KP and Mackey, DA and Craig, JE, Prevalence of FOXC1 variants in individuals with a suspected diagnosis of primary congenital glaucoma, JAMA Ophthalmology, (January) pp. E1-E8. ISSN 2168-6165 (2019) [Refereed Article]
Gharahkhani, P and Burdon, KP and Cooke Bailey, JN and Hewitt, AW and Law, MH and Pasquale, LR and Kang, JH and Haines, JL and Souzeau, E and Zhou, T and Siggs, OM and Landers, J and Awadalla, M and Sharma, S and Mills, RA and Ridge, B and Lynn, D and Casson, R and Graham, SL and Goldberg, I and White, A and Healey, PR and Grigg, J and Lawlor, M and Mitchell, P and Ruddle, J and Coote, M and Walland, M and Best, S and Vincent, A and Gale, J and RadfordSmith, G and Whiteman, DC and Montgomery, GW and Martin, NG and MacKey, DA and Wiggs, JL and MacGregor, S and Craig, JE, & the NEIGHBORHOOD consortium, Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma, Scientific Reports, 8, (1) Article 3124. ISSN 2045-2322 (2018) [Refereed Article]
Staffieri, SE and Kearns, LS and Sanfilippo, PG and Craig, JE and Mackey, DA and Hewitt, AW, Crowd-sourced ontology for photoleukocoria: Identifying common internet search terms for a potentially important pediatric ophthalmic sign, Translational Vision Science and Technology, 7, (1) Article 18. ISSN 2164-2591 (2018) [Refereed Article]
Hogarty, DT and Mackey, DA and Hewitt, AW, Current state and future prospects of artificial intelligence in ophthalmology: a review, Clinical and Experimental Ophthalmology, 47, (1) pp. 128-139. ISSN 1442-6404 (2018) [Refereed Article]
Fang Kho, P and Lea, RA and Benton, MC and Eccles, D and Haupt, LM and Hewitt, AW and Sherwin, JC and Mackey, DA and Griffiths, LR, Expression QTL analysis of glaucoma endophenotypes in the Norfolk Island isolate provides evidence that immune-related genes are associated with optic disc size, Journal of Human Genetics, 63, (1) pp. 83-87. ISSN 1434-5161 (2018) [Refereed Article]
Tedja, MS and Wojciechowski, R and Hysi, PG and Eriksson, N and Furlotte, NA and Verhoeven, VJM and Iglesias, AI and Meester-Smoor, MA and Tompson, SW and Fan, Q and Khawaja, AP and Cheng, CY and Hohn, R and Yamashiro, K and Wenocur, A and Grazal, C and Haller, T and Metspalu, A and Wedenoja, J and Jonas, JB and Wang, YX and Xie, J and Mitchell, P and Foster, PJ and Klein, BEK and Klein, R and Paterson, AD and Hosseini, SM and Shah, RL and Williams, C and Teo, YY and Tham, YC and Gupta, P and Zhao, W and Shi, Y and Saw, WY and Tai, ES and Sim, XL and Huffman, JE and Polasek, O and Hayward, C and Bencic, G and Rudan, I and Wilson, JF and Joshi, PK and Tsujikawa, A and Matsuda, F and Whisenhunt, KN and van der Spek, P and Haak, R and Meijers-Heijboer, H and van Leeuwen, EM and Iyengar, SK and Lass, JH and Hoffman, A and Rivadeneira, F and Uitterlinden, AG and V, JR and Lehtimaki, T and Raitakari, OT and Biino, G and Concas, MP and Haarman, AEG and Schwantes-An, TH and Igo JR, RP and Cuellar-Partida, G and Jhanji, V and Martin, NG and Craig, JE and Gharahkhani, P and Williams, KM and Nag, A and Rahi, JS and Cumberland, PM and Delcourt, C and Bellenguez, C and Ried, JS and Bergen, AA and Meitinger, T and Gieger, C and Wong, TY and Hewitt, AW and Mackey, DA and Simpson, NP and Parssinen, O and Baird, PN and Vitart, Vi and Amin, N and van Duijn, CM and Bailey-Wilson, JE and Saw, SM and Stambolian, D and MacGregor, S and Guggenheim, JA and Tung, JY and Hammond, CJ and Klaver, CWC, CREAM Consortium, 23andMe Research Team, UK Biobank Eye and Vision Consortium, Genome wide association meta analysis highlights light induced signaling as a driver for refractive error, Nature Genetics, 50, (6) pp. 834-848. ISSN 1061-4036 (2018) [Refereed Article]
Hysi, PG and Valdes, AM and Liu, F and Furlotte, NA and Evans, DM and Bataille, V and Visconti, A and Hemani, G and McMahon, G and Ring, SM and Smith, GD and Duffy, DL and Zhu, G and Gordon, SD and Medland, SE and Lin, BD and Willemsen, G and Jan Hottenga, J and Vuckovic, D and Girotto, G and Gandin, I and Sala, C and Concas, MP and Brumat, M and Gasparini, P and Toniolo, D and Cocca, M and Robino, A and Yazar, S and Hewitt, AW and Chen, Y and Zeng, C and Uitterlinden, AG and Ikram, MA and Hamer, MA and van Duijn, CM and Nijsten, T and Mackey, DA and Falchi, M and Boomsma, DI and Martin, NG and Hinds, DA and Kayser, M and Spector, TD and The International Visible Trait Genetics Consortium, Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability, Nature Genetics, 50, (5) pp. 652-656. ISSN 1061-4036 (2018) [Refereed Article]
Shaaban, S and MacKinnon, S and Andrews, C and Staffieri, SE and Maconachie, GDE and Chan, W-M and Whitman, MC and Morton, SU and Yazar, S and MacGregor, S and Elder, JE and Traboulsi, EI and Gottlob, I and Hewitt, AW and Hunter, DG and Mackey, DA and Engle, EC, Strabismus Genetics Research Consortium, Genome-wide association study identifies a susceptibility locus for comitant esotropia and suggests a parent-of-origin effect, Investigative Ophthalmology & Visual Science, 59, (10) pp. 4054-4064. ISSN 1552-5783 (2018) [Refereed Article]
Shiga, Y and Akiyama, M and Nishiguchi, KM and Sato, K and Shimozawa, N and Takahashi, A and Momozawa, Y and Hirata, M and Matsuda, K and Yamaji, T and Iwasaki, M and Tsugane, S and Oze, I and Mikami, H and Naito, M and Wakai, K and Yoshikawa, M and Miyake, M and Yamashiro, K and Kashiwagi, K and Iwata, T and Mabuchi, F and Takamoto, M and Ozaki, M and Kawase, K and Aihara, M and Araie, M and Yamamoto, T and Kiuchi, Y and Nakamura, M and Ikeda, Y and Sonoda, K-H and Ishibashi, T and Nitta, K and Iwase, A and Shirato, S and Oka, Y and Satoh, M and Sasaki, M and Fuse, N and Suzuki, Y and Cheng, C-Y and Khor, CC and Baskaran, M and Perera, S and Aung, T and Vithana, EN and Cooke Bailey, JN and Kang, JH and Pasquale, LR and Haines, JL and Wiggs, JL and Burdon, KP and Gharahkhani, P and Hewitt, AW and Mackey, DA and MacGregor, S and Craig, JE and Allingham, RR and Hauser, M and Ashaye, A and Budenz, DL and Akafo, S and Williams, SEI and Kamatani, Y and Nakazawa, T and Kubo, M, Japan Glaucoma Society Omics Group (JGS-OG), NEIGHBORHOOD Consortium, Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma, Human Molecular Genetics, 27, (8) pp. 1486-1496. ISSN 0964-6906 (2018) [Refereed Article]
MacGregor, S and Ong, J-S and An, J and Han, X and Zhou, T and Siggs, OM and Law, MH and Souzeau, E and Sharma, S and Lynn, DJ and Beesley, J and Sheldrick, B and Mills, RA and Landers, J and Ruddle, JB and Graham, SL and Healey, PR and White, AJR and Casson, RJ and Best, S and Grigg, JR and Goldberg, I and Powell, JE and Whiteman, DC and Radford-Smith, GL and Martin, NG and Montgomery, GW and Burdon, KP and Mackey, DA and Gharahkhani, P and Craig, JE and Hewitt, AW, Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma, Nature Genetics, 50, (8) pp. 1067-1071. ISSN 1061-4036 (2018) [Refereed Article]
Han, X and Souzeau, E and Ong, J-S and An, J and Siggs, OM and Burdon, KP and Best, S and Goldberg, I and Healey, PR and Graham, SL and Ruddle, JB and Mills, RA and Landers, J and Galanopoulos, A and White, AJR and Casson, R and Mackey, DA and Hewitt, AW and Gharahkhani, P and Craig, JE and MacGregor, S, Myocilin gene Gln368Ter variant penetrance and association with glaucoma in population-based and registry-based studies, JAMA Ophthalmology pp. E1-E8. ISSN 2168-6165 (2018) [Refereed Article]
Sanfilippo, P and Hewitt, AW and Mackey, DA, Plurality in multi-disciplinary research: multiple institutional affiliations are associated with increased citations, PeerJ, 6, (9) Article e5664. ISSN 2167-8359 (2018) [Refereed Article]
Cooke Bailey, JN and Gharahkhani, P and Kang, JH and Butkiewicz, M and Sullivan, DA and Weinreb, RN and Aschard, H and Allingham, RR and Ashley-Koch, A and Lee, RK and Moroi, SE and Brilliant, MH and Wollstein, G and Schuman, JS and Fingert, JH and Budenz, DL and Realini, T and Gaasterland, T and Scott, WK and Singh, K and Sit, AJ and Igo Jr, RP and Song, YE and Hark, L and Ritch, R and Rhee, DJ and Vollrath, D and Zack, DJ and Medeiros, F and Vajaranant, TS and Chasman, DI and Christen, WG and Pericak-Vance, MA and Liu, Y and Kraft, P and Richards, JE and Rosner, BA and Hauser, MA and Craig, JE and Burdon, KP and Hewitt, AW and Mackey, DA and Haines, JL and MacGregor, S and Wiggs, JL and Pasquale, LR, for the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) Consortium, Testosterone pathway genetic polymorphisms in relation to primary open-angle glaucoma: an analysis in two large datasets, Investigative Ophthalmology and Visual Science, 59, (2) pp. 629-636. ISSN 0146-0404 (2018) [Refereed Article]
Lee, SSY and Yazar, S and Pasquale, LR and Sanfilippo, PG and Hewitt, AW and Hickey, M and Skinner, R and Mackey, DA, The relationship between optic disc parameters and female reproductive factors in young women, Asia-Pacific Journal of Ophthalmology pp. 1-5. ISSN 2162-0989 (2018) [Refereed Article]
Souzeau, E and Tram, KH and Witney, M and Ruddle, JB and Graham, SL and Healey, PR and Goldberg, I and Mackey, DA and Hewitt, AW and Burdon, KP and Craig, JE, Myocilin predictive genetic testing for primary open-angle glaucoma leads to early identification of at-risk individuals, Ophthalmology, 124, (3) pp. 303-309. ISSN 0161-6420 (2017) [Refereed Article]
Thomson, BR and Souma, T and Tompson, SW and Onay, T and Kizhatil, K and Siggs, OM and Feng, L and Whisenhunt, KN and Yanovitch, TL and Kalaydjieva, L and Azmanov, DN and Finzi, S and Tanna, CE and Hewitt, AW and Mackey, DA and Bradfield, YS and Souzeau, E and Javadiyan, S and Wiggs, JL and Pasutto, F and Liu, X and John, SWM and Craig, JE and Jin, J and Young, TL and Quaggin, SE, Angiopoietin-1 is required for Schlemm's canal development in mice and humans, Journal of Clinical Investigation, 127, (12) pp. 4421-4436. ISSN 0021-9738 (2017) [Refereed Article]
Zhou, T and Souzeau, E and Siggs, OM and Landers, J and Mills, R and Goldberg, I and Healey, PR and Graham, S and Hewitt, AW and Mackey, DA and Galanopoulos, A and Casson, RJ and Ruddle, JB and Ellis, J and Leo, P and Brown, MA and MacGregor, S and Sharma, S and Burdon, KP and Craig, JE, Contribution of mutations in known mendelian glaucoma genes to advanced early-onset primary open-angle glaucoma, Investigative Ophthalmology and Visual Science, 58, (3) pp. 1537-1544. ISSN 0146-0404 (2017) [Refereed Article]
Galloway, CA and Dalvi, S and Hung, SSC and MacDonald, LA and Latchney, LR and Wong, RCB and Guymer, RH and Mackey, DA and Williams, DS and Chung, MM and Gamm, DM and Pebay, A and Hewitt, AW and Singh, R, Drusen in patient-derived hiPSC-RPE models of macular dystrophies, Proceedings of the National Academy of Sciences, 114, (39) pp. E8214-E8223. ISSN 0027-8424 (2017) [Refereed Article]
Cuellar-Partida, G and Williams, KM and Yazar, S and Guggenheim, JA and Hewitt, AW and Williams, C and Wang, JJ and Kho, P-F and Saw, SM and Cheng, C-Y and Wong, TY and Aung, T and Young, TL and Tideman, JWL and Jonas, JB and Mitchell, P and Wojciechowski, R and Stambolian, D and Hysi, P and Hammond, CJ and Mackey, DA and Lucas, RM and MacGregor, S, Consortium for Refractive Error and Myopia (CREAM), Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study, International Journal of Epidemiology, 46, (6) pp. 1882-1890. ISSN 0300-5771 (2017) [Refereed Article]
Law, MH and Medland, SE and Zhu, G and Yazar, S and Vinuela, A and Wallace, L and Shekar, SN and Duffy, DL and Bataille, V and Glass, D and Spector, TD and Wood, D and Gordon, SD and Barbour, JM and Henders, AK and Hewitt, AW and Montgomery, GW and Sturm, RA and Mackey, DA and Green, AC and Martin, NG and MacGregor, S and the MuTHER Consortium, Genome-wide association shows that pigmentation genes play a role in skin aging, Journal of Investigative Dermatology, 137, (9) pp. 1887-1894. ISSN 0022-202X (2017) [Refereed Article]
Matovinovic, E and Kho, PF and Lea, RA and Benton, MC and Eccles, DA and Haupt, LM and Hewitt, AW and Sherwin, JC and Mackey, DA and Griffiths, LR, Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate, Molecular Vision, 23 pp. 660-665. ISSN 1090-0535 (2017) [Refereed Article]
Souzeau, E and Siggs, OM and Zhou, T and Galanopoulos, A and Hodson, T and Taranath, D and Mills, RA and Landers, J and Pater, J and Smith, JE and Elder, JE and Rait, JL and Giles, P and Phakey, V and Staffieri, SE and Kearns, LS and Dubowsky, A and Mackey, DA and Hewitt, AW and Ruddle, JB and Burdon, KP and Craig, JE, Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants, European Journal of Human Genetics, 25, (7) pp. 839-847. ISSN 1018-4813 (2017) [Refereed Article]
Iglesias, AI and van der Lee, SJ and Bonnemaijer, PWM and Hohn, R and Nag, A and Gharahkhani, P and Khawaja, AP and Broer, L and Foster, PJ and Hammond, CJ and Hysi, PG and van Leeuwen, EM and MacGregor, S and Mackey, DA and Mazur, J and Nickels, S and Uitterlinden, AG and Klaver, CCW and Amin, N and van Duijn, CM, International Glaucoma Genetics Consortium (IGGC), Haplotype reference consortium panel: Practical implications of imputations with large reference panels, Human Mutation, 38, (8) pp. 1025-1032. ISSN 1059-7794 (2017) [Refereed Article]
Javadiyan, S and Craig, JE and Souzeau, E and Sharma, S and Lower, KM and Mackey, DA and Staffieri, SE and Elder, JE and Taranath, D and Straga, T and Black, J and Pater, J and Casey, T and Hewitt, AW and Burdon, KP, High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia, G3: Genes, Genomes, Genetics, 7, (10) pp. 3257-3268. ISSN 2160-1836 (2017) [Refereed Article]
Nicol, D and Eckstein, L and Morrison, M and Sherkow, JS and Otlowski, M and Whitton, T and Bubela, T and Burdon, KP and Chalmers, D and Chan, S and Charlesworth, J and Critchley, C and Crossley, M and de Lacey, S and Dickinson, JL and Hewitt, AW and Kamens, J and Kato, K and Kleiderman, E and Kodama, S and Liddicoat, J and Mackey, DA and Newson, AJ and Nielsen, J and Wagner, JK and McWhirter, RE, Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic, Genome Medicine, 9, (1) Article 85. ISSN 1756-994X (2017) [Contribution to Refereed Journal]
Bursle, C and Riney, K and Stringer, J and Moore, D and Gole, G and Kearns, LS and Mackey, DA and Coman, D, Leber Hereditary Optic Neuropathy and longitudinally extensive transverse myelitis, JIMD reports, 42 pp. 53-60. ISSN 2192-8312 (2017) [Refereed Article]
Wong, RCB and Lim, SY and Hung, SSC and Jackson, S and Khan, S and Van Bergen, NJ and De Smit, E and Liang, HH and Kearns, LS and Clarke, L and Mackey, DA and Hewitt, AW and Trounce, IA and Pebay, A, Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy, Aging, 9, (4) pp. 1341-1350. ISSN 1945-4589 (2017) [Refereed Article]
Springelkamp, H and Iglesias, AI and Mishra, A and Hohn, R and Wojciechowski, R and Khawaja, AP and Nag, A and Wang, YX and Wang, JJ and Cuellar-Partida, G and Gibson, J and Cooke Bailey, JN and Vithana, EN and Gharahkhani, P and Boutin, T and Ramdas, WD and Zeller, T and Luben, RN and Yonova-Doing, E and Viswanathan, AC and Yazar, S and Cree, AJ and Haines, JL and Koh, JY and Souzeau, E and Wilson, JF and Amin, N and Muller, C and Venturini, C and Kearns, LS and Kang, JH and Tham, YC and Zhou, T and van Leeuwen, EM and Nickels, S and Sanfilippo, P and Liao, J and van der Linde, H and Zhao, W and van Koolwijk, LME and Zheng, L and Rivadeneira, F and Baskaran, M and van der Lee, SJ and Perera, S and de Jong, PTVM and Oostra, BA and Uitterlinden, AG and Fan, Q and Hofman, A and Tai, E-S and Vingerling, JR and Sim, X and Wolfs, RCW and Teo, YY and Lemij, HG and Khor, CC and Willemsen, R and Lackner, KJ and Aung, T and Jansonius, NM and Montgomery, G and Wild, PS and Young, TL and Burdon, KP and Hysi, PG and Pasquale, LR and Wong, TY and Klaver, CCW and Hewitt, AW and Jonas, JB and Mitchell, P and Lotery, AJ and Foster, PJ and Vitart, V and Pfeiffer, N and Craig, JE and Mackey, DA and Hammond, CJ and Wiggs, JL and Cheng, C-Y and van Duijn, CM and MacGregor, S, NEIGHBORHOOD Consortium, New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics, Human Molecular Genetics, 26, (2) pp. 438-453. ISSN 0964-6906 (2017) [Refereed Article]
Sanfilippo, PG and Hewitt, AW and Mackey, DA, The importance of conditional probability in diagnostic reasoning and clinical decision making: A primer for the eye care practitioner, Ophthalmic Epidemiology, 24, (2) pp. 81-89. ISSN 0928-6586 (2017) [Refereed Article]
Zhou, T and Souzeau, E and Sharma, S and Landers, J and Mills, R and Goldberg, I and Healey, PR and Graham, S and Hewitt, AW and Mackey, DA and Galanopoulos, A and Casson, RJ and Ruddle, JB and Ellis, J and Leo, P and Brown, MA and MacGregor, S and Lynn, DJ and Burdon, KP and Craig, JE, Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma, PLoS ONE, 12, (3) Article e0172427. ISSN 1932-6203 (2017) [Refereed Article]
Oliver, VF and Van Bysterveldt, KA and Cadzow, M and Steger, B and Romano, V and Markie, D and Hewitt, AW and Mackey, DA and Willoughby, CE and Sherwin, T and Crosier, PS and McGhee, CN and Vincent, AL, A COL17A1 splice-altering mutation is prevalent in inherited recurrent corneal erosions, Ophthalmology, 123, (4) pp. 709-722. ISSN 0161-6420 (2016) [Refereed Article]
Souma, T and Tompson, SW and Thomson, BR and Siggs, OM and Kizhatil, K and Yamaguchi, S and Feng, L and Limviphuvadh, V and Whisenhunt, KN and Maurer-Stroh, S and Yanovitch, TL and Kalaydjieva, L and Azmanov, DN and Finzi, S and Mauri, L and Javadiyan, S and Souzeau, E and Zhou, T and Hewitt, AW and Kloss, B and Burdon, KP and Mackey, DA and Allen, KF and Ruddle, JB and Lim, S-H and Rozen, S and Tran-Viet, K-N and Liu, X and John, S and Wiggs, JL and Pasutto, F and Craig, JE and Jin, J and Quaggin, SE and Young, TL, Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity, Journal of Clinical Investigation, 126, (7) pp. 2575-2587. ISSN 0021-9738 (2016) [Refereed Article]
Cuellar-Partida, G and Craig, JE and Burdon, KP and Wang, JJ and Vote, BJ and Souzeau, E and McAllister, IL and Isaacs, T and Lake, S and Mackey, DA and Constable, IJ and Mitchell, P and Hewitt, AW and MacGregor, S, Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration, Scientific Reports, 6 Article 26885. ISSN 2045-2322 (2016) [Refereed Article]
Yazar, S and Hewitt, AW and Forward, H and Jacques, A and Ing, C and von Ungern-Sternberg, BS and Mackey, DA, Early anesthesia exposure and the effect on visual acuity, refractive error, and retinal nerve fiber layer thickness of young adults, The Journal of Pediatrics, 169 pp. 256-259.e1. ISSN 0022-3476 (2016) [Refereed Article]
Souzeau, E and Burdon, KP and Mackey, DA and Hewitt, AW and Savarirayan, R and Otlowski, M and Craig, JE, Ethical considerations for the return of incidental findings in ophthalmic genomic research, Translational Vision Science and Technology, 5, (1) pp. 1-11. ISSN 2164-2591 (2016) [Refereed Article]
Mackey, DA and Kearns, LS and Hewitt, AW, Gene-Based Therapies for Leber Hereditary Optic Neuropathy. Hype or Hope?, Asia-Pacific Journal of Ophthalmology, 5, (4) pp. 253-255. ISSN 0129-1653 (2016) [Refereed Article]
Bailey, JN and Loomis, SJ and Kang, JH and Allingham, RR and Gharahkhani, P and Khor, CC and Burdon, KP and Aschard, H and Chasman, DI and Igo, RP and Hysi, PG and Glastonbury, CA and Ashley-Koch, A and Brilliant, M and Brown, AA and Budenz, DL and Buil, A and Cheng, CY and Choi, H and Christen, WG and Curhan, G and De Vivo, I and Fingert, JH and Foster, PJ and Fuchs, C and Gaasterland, D and Gaasterland, T and Hewitt, AW and Hu, F and Hunter, DJ and Khawaja, AP and Lee, RK and Li, Z and Lichter, PR and Mackey, DA and McGuffin, P and Mitchell, P and Moroi, SE and Perera, SA and Pepper, KW and Qi, Q and Realini, T and Richards, JE and Ridker, PM and Rimm, E and Ritch, R and Ritchie, M and Schuman, JS and Scott, WK and Singh, K and Sit, AJ and Song, YE and Tamimi, RM and Topouzis, F and Viswanathan, AC and Verma, SS and Vollrath, D and Wang, JJ and Weisschuh, N and Wissinger, B and Wollstein, G and Wong, TY and Yaspan, BL and Zack, DJ and Zhang, K and Weinreb, RN and Pericak-Vance, MA and Small, K and Hammond, CJ and Aung, T and Liu, Y and Vithana, EN and MacGregor, S and Craig, JE and Kraft, P and Howell, G and Hauser, MA and Pasquale, LR and Haines, JL and Wiggs, JL, EPIC-Norfolk Eye Study, ANZRAG Consortium, Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma, Nature Genetics, 48, (2) pp. 189-194. ISSN 1061-4036 (2016) [Refereed Article]
Fan, Q and Verhoeven, VJM and Wojciechowski, R and Barathi, VA and Hysi, PG and Guggenheim, JA and Hohn, R and Vitart, V and Khawaja, AP and Yamashiro, K and Hosseini, SM and Lehtimaki, T and Lu, Y and Haller, T and Xie, J and Delcourt, C and Pirastu, M and Wedenoja, J and Gharahkhani, P and Venturini, C and Miyake, M and Hewitt, AW and Guo, X and Mazur, J and Huffman, JE and Williams, KM and Polasek, O and Campbell, H and Rudan, I and Vatavuk, Z and Wilson, JF and Joshi, PK and McMahon, G and St Pourcain, B and Evans, DM and Simpson, CL and Schwantes-An, T-H and Igo, RP and Mirshahi, A and Cougnard-Gregoire, A and Bellenguez, C and Blettner, M and Raitakari, O and Kahonen, M and Seppala, I and Zeller, T and Meitinger, T and Ried, JS and Gieger, C and Portas, L and Van Leeuwen, EM and Amin, N and Uitterlinden, AG and Rivadeneira, F and Hofman, A and Vingerling, JR and Wang, YX and Wang, X and Tai-Hui Boh, E and Ikram, MK and Sabanayagam, C and Gupta, P and Tan, V and Zhou, L and Ho, CEH and Lim, W and Beuerman, RW and Siantar, R and Tai, E-S and Vithana, E and Mihailov, E and Khor, C-C and Hayward, C and Luben, RN and Foster, PJ and Klein, BEK and Klein, R and Wong, H-S and Mitchell, P and Metspalu, A and Aung, T and Young, TL and He, M and Parssinen, O and van Duijn, CM and Wang, JJ and Williams, C and Jonas, JB and Teo, Y-Y and Mackey, DA and Oexle, K and Yoshimura, N and Paterson, AD and Pfeiffer, N and Wong, T-Y and Baird, PN and Stambolian, D and Bailey-Wilson, JE and Cheng, C-Y and Hammond, CJ and Klaver, CCW and Saw, S-M, Consortium for Refractive Error and Myopia (CREAM), Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error, Nature Communications, 7 Article 11008. ISSN 2041-1723 (2016) [Refereed Article]
McCaughey, T and Chen, CY and De Smit, E and Rees, G and Fenwick, E and Kearns, LS and Mackey, DA and MacGregor, C and Munsie, M and Cook, AL and Pebay, A and Hewitt, AW, Participant understanding and recall of informed consent for induced pluripotent stem cell biobanking, Cell and Tissue Banking, 17, (3) pp. 449-456. ISSN 1389-9333 (2016) [Refereed Article]
Sanfilippo, PG and Chu, BS and Bigault, O and Kearns, LS and Boon, MY and Young, TL and Hammond, CJ and Hewitt, AW and Mackey, DA, Response: Cycloplegia in refraction: age and cycloplegics, Acta Ophthalmologica, 94, (5) pp. e373. ISSN 1755-375X (2016) [Letter or Note in Journal]
Sanfilippo, PG and Huynh, E and Yazar, S and Hewitt, AW and Mackey, DA, Spectral-Domain Optical Coherence Tomography-Derived Characteristics of Bruch Membrane Opening in a Young Adult Australian Population, American Journal of Ophthalmology, 165 pp. 154-163. ISSN 0002-9394 (2016) [Refereed Article]
Springelkamp, H and Iglesias, AI and Cuellar-Partida, G and Amin, N and Burdon, KP and van Leeuwen, EM and Gharahkhani, P and Mishra, A and van der Lee, SJ and Hewitt, AW and Rivadeneira, F and Viswanathan, AC and Wolfs, RC and Martin, NG and Ramdas, WD and van Koolwijk, LM and Pennell, CE and Vingerling, JR and Mountain, JE and Uitterlinden, AG and Hofman, A and Mitchell, P and Lemij, HG and Wang, JJ and Klaver, CC and Mackey, DA and Craig, JE and van Duijn, CM and MacGregor, S, ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure, Human Molecular Genetics, 24, (9) pp. 2689-2699. ISSN 1460-2083 (2015) [Refereed Article]
Souzeau, E and Hayes, M and Ruddle, JB and Elder, JE and Staffieri, SE and Kearns, LS and Mackey, DA and Zhou, T and Ridge, B and Burdon, KP and Dubowsky, A and Craig, JE, CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma, Molecular Vision, 21 pp. 160-164. ISSN 1090-0535 (2015) [Refereed Article]
Li, Z and Allingham, RR and Nakano, M and Jia, L and Chen, Y and Ikeda, Y and Mani, B and Chen, LJ and Kee, C and Garway-Heath, DF and Sripriya, S and Fuse, N and Abu-Amero, KK and Huang, C and Namburi, P and Burdon, K and Perera, SA and Gharahkhani, P and Lin, Y and Ueno, M and Ozaki, M and Mizoguchi, T and Krishnadas, SR and Osman, EA and Lee, MC and Chan, AS and Tajudin, LS and Do, T and Goncalves, A and Reynier, P and Zhang, H and Bourne, R and Goh, D and Broadway, D and Husain, R and Negi, AK and Su, DH and Ho, CL and Blanco, AA and Leung, CK and Wong, TT and Yakub, A and Liu, Y and Nongpiur, ME and Han, JC and Hon, DN and Shantha, B and Zhao, B and Sang, J and Zhang, N and Sato, R and Yoshii, K and Panda-Jonas, S and Ashley Koch, AE and Herndon, LW and Moroi, SE and Challa, P and Foo, JN and Bei, JX and Zeng, YX and Simmons, CP and Bich Chau, TN and Sharmila, PF and Chew, M and Lim, B and Tam, PO and Chua, E and Ng, XY and Yong, VH and Chong, YF and Meah, WY and Vijayan, S and Seongsoo, S and Xu, W and Teo, YY and Cooke Bailey, JN and Kang, JH and Haines, JL and Cheng, CY and Saw, SM and Tai, ES and Richards, JE and Ritch, R and Gaasterland, DE and Pasquale, LR and Liu, J and Jonas, JB and Milea, D and George, R and Al-Obeidan, SA and Mori, K and MacGregor, S and Hewitt, AW and Girkin, CA and Zhang, M and Sundaresan, P and Vijaya, L and Mackey, DA and Wong, TY and Craig, JE and Sun, X and Kinoshita, S and Wiggs, JL and Khor, CC and Yang, Z and Pang, CP and Wang, N and Hauser, MA and Tashiro, K and Aung, T and Vithana, EN, ICAARE-Glaucoma consortium, NEIGHBORHOOD consortium, A common variant near TGFBR3 is associated with primary open angle glaucoma, Human Molecular Genetics, 24, (13) pp. 3880-3892. ISSN 1460-2083 (2015) [Refereed Article]
Fritsche, LG and Igl, W and Bailey, JN and Grassmann, F and Sengupta, S and Bragg-Gresham, JL and Burdon, KP and Hebbring, SJ and Wen, C and Gorski, M and Kim, IK and Cho, D and Zack, D and Souied, E and Scholl, HPN and Bala, E and Lee, KE and Hunter, DJ and Sardell, RJ and Mitchell, P and Merriam, JE and Cipriani, V and Hoffman, JD and Schick, T and Lechanteur, YTE and Guymer, RH and Johnson, MP and Jiang, Y and Stanton, CM and Buitendijk, GH and Zhan, X and Kwong, AM and Boleda, A and Brooks, M and Gieser, L and Ratnapriya, R and Branham, KE and Foerster, JR and Heckenlively, JR and Othman, MI and Vote, BJ and Liang, HH and Souzeau, E and McAllister, IL and Isaacs, T and Hall, J and Lake, S and Mackey, DA and Constable, IJ and Craig, JE and Kitchner, TE and Yang, Z and Su, Z and Luo, H and Chen, D and Ouyang, H and Flagg, K and Lin, D and Mao, G and Ferreyra, H and Stark, K and von Strachwitz, CN and Wolf, A and Brandl, C and Rudolph, G and Olden, M and Morrison, MA and Morgan, DJ and Schu, M and Ahn, J and Silvestri, G and Tsironi, EE and Park, KH and Farrer, LA and Orlin, A and Brucker, A and Li, M and Curcio, CA and Mohand-Said, S and Sahel, J-A and Audo, I and Benchaboune, M and Cree, AJ and Rennie, CA and Goverdhan, SV and Grunin, M and Hagbi-Levi, S and Campochiaro, P and Katsanis, N and Holz, FG and Blond, F and Blanche, H and Deleuze, J-F and Igo Jr, RP and Truitt, B and Peachey, NS and Meuer, SM and Myers, CE and Moore, EL and Klein, R and Hauser, MA and Postel, EA and Courtenay, MD and Schwartz, SG and Kovach, JL and Scott, WK and Liew, G and Tan, AG and Gopinath, B and Merriam, JC and Smith, RT and Khan, JC and Shahid, H and Moore, AT and McGrath, JA and Laux, R and Brantley Jr, MA and Agarwal, A and Ersoy, L and Caramoy, A and Langmann, T and Saksens, NTM and de Jong, EK and Hoyng, CB and Cain, MS and Richardson, AJ and Martin, TM and Blangero, J and Weeks, DE and Dhillon, B and van Duijn, CM and Doheny, KF and Romm, J and Klaver, CC and Hayward, C and Gorin, MB and Klein, ML and Baird, PN and den Hollander, AI and Fauser, S and Yates, JRW and Allikmets, R and Wang, JJ and Schaumberg, DA and Klein, BEK and Hagstrom, SA and Chowers, I and Lotery, AJ and Leveillard, T and Zhang, K and Brilliant, MH and Hewitt, AW and Swaroop, A and Chew, EY and Pericak-Vance, MA and DeAngelis, M and Stambolian, D and Haines, JL and Iyengar, SK and Weber, BH and Abecasis, GR and Heid, IM, A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants, Nature Genetics, 48, (2) pp. 134-143. ISSN 1546-1718 (2015) [Refereed Article]
Gharahkhani, P and Burdon, KP and Hewitt, AW and Law, MH and Souzeau, E and Montgomery, GW and Radford-Smith, G and Mackey, DA and Craig, JE and MacGregor, S, Accurate imputation-based screening of Gln368Ter myocilin variant in primary open-angle glaucoma, Investigative Ophthalmology and Visual Science, 56, (9) pp. 5087-5093. ISSN 0146-0404 (2015) [Refereed Article]
Cuellar-Partida, G and Lu, Y and Kho, PF and Hewitt, AW and Wichmann, HE and Yazar, S and Stambolian, D and Bailey-Wilson, JE and Wojciechowski, R and Wang, JJ and Mitchell, P and Mackey, DA and MacGregor, S, Assessing the genetic predisposition of education on myopia: a Mendelian randomization study, Genetic Epidemiology, 40, (1) pp. 66-72. ISSN 0741-0395 (2015) [Refereed Article]
Staffieri, SE and Rose, L and Chang, A and De Roach, JN and Mclaren, TL and Mackey, DA and Hewitt, AW and Lamey, TM, Clinical and molecular characterization of females affected by X-linked retinoschisis, Clinical and Experimental Ophthalmology, 43, (7) pp. 643-647. ISSN 1442-6404 (2015) [Refereed Article]
Sanfilippo, PG and Kearns, LS and Wright, P and Mackey, DA and Hewitt, AW, Current landscape of direct-to-consumer genetic testing and its role in ophthalmology: A review, Clinical and Experimental Ophthalmology, 43, (6) pp. 578-590. ISSN 1442-6404 (2015) [Refereed Article]
Sanfilippo, PG and Yazar, S and Kearns, L and Sherwin, JC and Hewitt, AW and Mackey, DA, Distribution of astigmatism as a function of age in an Australian population, Acta Ophthalmologica, 93, (5) pp. e377-e385. ISSN 1755-375X (2015) [Refereed Article]
Sanfilippo, PG and Wilkinson, CH and Ruddle, JB and Zhu, G and Martin, NG and Hewitt, AW and Mackey, DA, Don't it make your brown eyes blue? A comparison of iris colour across latitude in Australian twins, Clinical and Experimental Optometry, 98, (2) pp. 172-176. ISSN 0816-4622 (2015) [Refereed Article]
Yazar, S and Cuellar-Partida, G and McKnight, CM and Quach-Thanissorn, P and Mountain, JA and Coroneo, MT and Pennell, CE and Hewitt, AW and MacGregor, S and Mackey, DA, Genetic and environmental factors in conjunctival UV autofluorescence, JAMA Ophthalmology, 133, (4) pp. 406-412. ISSN 2168-6165 (2015) [Refereed Article]
Qing, L and Wojciechowski, R and Simpson, CL and Hysi, PG and Verhoeven, VJM and Ikram, MK and Hohn, R and Vitart, V and Hewitt, AW and Oexle, K and Makela, K-M and MacGregor, S and Pirastu, M and Fan, Q and Cheng, C-Y and St Pourcain, B and McMahon, G and Kemp, JP and Northstone, K and Rahi, JS and Cumberland, PM and Martin, NG and Sanfilippo, PG and Lu, Y and Wang, YX and Hayward, C and Polasek, O and Campbell, H and Bencic, G and Wright, AF and Wedenoja, J and Zeller, T and Schillert, A and Mirshahi, A and Lackner, K and Yip, SP and Yap, MKH and Ried, JS and Gieger, C and Murgia, F and Wilson, JF and Fleck, B and Yazar, S and Vingerling, JR and Hofman, A and Uitterlinden, A and Rivadeneira, F and Amin, N and Karssen, L and Oostra, BA and Zhou, X and Teo, Y-Y and Tai, ES and Vithana, E and Barathi, V and Zheng, Y and Siantar, RG and Neelam, K and Shin, Y and Lam, J and Yonova-Doing, E and Venturini, C and Hosseini, SM and Wong, H-S and Lehtimaki, T and Kahonen, M and Raitakari, O and Timpson, NJ and Evans, DM and Khor, C-C and Aung, T and Young, TL and Mitchell, P and Klein, B and van Duijn, CM and Meitinger, T and Jonas, JB and Baird, PN and Mackey, DA and Wong, TY and Saw, S-S and Parssinen, O and Stambolian, D and Hammond, CJ and Klaver, CCW and Williams, C and Paterson, AD and Bailey-Wilson, JE and Guggenheim, JA and The CREAM Consortium, Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium, Human Genetics, 134, (2) pp. 131-146. ISSN 0340-6717 (2015) [Refereed Article]
Miyake, M and Yamashiro, K and Tabara, Y and Suda, K and Morooka, S and Nakanishi, H and Khor, CC and Chen, P and Qiao, F and Nakata, I and Akagi-Kurashige, Y and Gotoh, N and Tsujikawa, A and Meguro, A and Kusuhara, S and Polasek, O and Hayward, C and Wright, AF and Campbell, H and Richardson, AJ and Schache, M and Takeuchi, M and Mackey, DA and Hewitt, AW and Cuellar, G and Shi, Y and Huang, L and Yang, Z and Leung, KH and Kao, PY and Yap, MK and Yip, SP and Moriyama, M and Ohno-Matsui, K and Mizuki, N and MacGregor, S and Vitart, V and Aung, T and Saw, SM and Tai, ES and Wong, TY and Cheng, CY and Baird, PN and Yamada, R and Matsuda, F and Yoshimura, N, Nagahama Study Group, Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia, Nature Communications, 6 Article 6689. ISSN 2041-1723 (2015) [Refereed Article]
Springelkamp, H and Mishra, A and Hysi, PG and Gharahkhani, P and Hohn, R and Khor, CC and Cooke Bailey, JN and Luo, X and Ramdas, WD and Vithana, E and Koh, V and Yazar, S and Xu, L and Forward, H and Kearns, LS and Amin, N and Iglesias, AI and Sim, K and van Leeuwen, EM and Demirkan, A and van der Lee, S and Loon, SC and Rivadeneira, F and Nag, A and Sanfilippo, PG and Schillert, A and de Jong, PTVM and Oostra, BA and Uitterlinden, AG and Hofman, A and Zhou, T and Burdon, KP and Spector, TD and Lackner, KJ and Saw, S and Vingerling, JR and Teo, YY and Pasquale, LR and Wolfs, RCW and Lemij, HG and Tai, ES and Jonas, JB and Cheng, CY and Aung, T and Jansonius, NM and Klaver, CCW and Craig, JE and Young, TL and Haines, JL and MacGregor, S and Mackey, DA and Pfeiffer, N and Wong, TY and Wiggs, JL and Hewitt, AW and van Duijn, CM and Hammond, CJ, NEIGHBORHOOD Consortium, Meta-analysis of genome-wide association studies identifies novel loci associated with optic disc morphology, Genetic Epidemiology, 39, (3) pp. 207-216. ISSN 0741-0395 (2015) [Refereed Article]
Souzeau, E and Hayes, M and Zhou, T and Siggs, OM and Ridge, B and Awadalla, MS and Smith, JEH and Ruddle, JB and Elder, JE and Mackey, DA and Hewitt, AW and Healey, PR and Goldberg, I and Morgan, WH and Landers, J and Dubowsky, A and Burdon, KP and Craig, JE, Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss, JAMA Ophthalmology, 133, (7) pp. 826-833. ISSN 2168-6165 (2015) [Refereed Article]
McKnight, CM and Sherwin, JC and Yazar, S and Forward, H and Tan, AX and Hewitt, AW and Smith, E and Turton, D and Byrd, P and Pennell, CE and Coroneo, MT and Mackey, DA, Pterygium and conjunctival ultraviolet autofluorescence in young Australian adults: the Raine study, Clinical and Experimental Ophthalmology, 43, (4) pp. 300-307. ISSN 1442-6404 (2015) [Refereed Article]
Meier, MH and Gillespie, NA and Hansell, NK and Hewitt, AW and Hickie, IB and Lu, Y and McGrath, J and MacGregor, S and Medland, SE and Sun, C and Wong, TY and Wright, MJ and Zhu, G and Martin, NG and Mackey, DA, Retinal microvessels reflect familial vulnerability to psychotic symptoms: A comparison of twins discordant for psychotic symptoms and controls, Schizophrenia Research, 164, (1-3) pp. 47-52. ISSN 0920-9964 (2015) [Refereed Article]
Sanfilippo, PG and Casson, RJ and Yazar, S and Mackey, DA and Hewitt, AW, Review of null hypothesis significance testing in the ophthalmic literature: are most 'significant' P values false positives?, Clinical and Experimental Ophthalmology, 44, (1) pp. 52-61. ISSN 1442-6404 (2015) [Refereed Article]
Meier, MH and Gillespie, NA and Hansell, NK and Hewitt, AW and Hickie, IB and Lu, Y and MacGregor, S and Medland, SE and Sun, C and Wong, TY and Wright, M and Zhu, G and Martin, NG and Mackey, DA, Associations between depression and anxiety symptoms and retinal vessel caliber in adolescents and young adults, Psychosomatic Medicine, 76, (9) pp. 732-738. ISSN 0033-3174 (2014) [Refereed Article]
Yazar, S and Gooden, GEC and Mackey, DA and Hewitt, AW, Benchmarking undedicated cloud computing providers for analysis of genomic datasets, PLoS ONE, 9, (9) Article e108490. ISSN 1932-6203 (2014) [Refereed Article]
Gharahkhani, P and Burdon, KP and Fogarty, R and Sharma, S and Hewitt, AW and Martin, S and Law, MH and Cremin, K and Cooke Bailey, JN and Loomis, SJ and Pasquale, LR and Haines, JL and Hauser, MA and Viswanathan, AC and McGuffin, P and Topouzis, F and Foster, PJ and Graham, SL and Casson, RJ and Chehade, M and White, AJ and Zhou, T and Souzeau, E and Landers, J and Fitzgerald, JT and Klebe, S and Ruddle, JB and Goldberg, I and Healey, PR and Mills, RA and Wang, JJ and Montgomery, GW and Martin, NG and Radford-Smith, G and Whiteman, DC and Brown, MA and Wiggs, JL and Mackey, DA and Mitchell, P and MacGregor, S and Craig, JE, Wellcome Trust Case Control Consortium, NEIGHBORHOOD Consortium, Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma, Nature Genetics, 46, (10) pp. 1120-1125. ISSN 1546-1718 (2014) [Refereed Article]
Yazar, S and Hewitt, AW and Forward, H and McKnight, CM and Tan, A and Mountain, JA and Mackey, DA, Comparison of monochromatic aberrations in young adults with different visual acuity and refractive errors, Journal of Cataract and Refractive Surgery, 40, (3) pp. 441-449. ISSN 0886-3350 (2014) [Refereed Article]
Hysi, PG and Cheng, CY and Springelkamp, H and Macgregor, S and Bailey, JN and Wojciechowski, R and Vitart, V and Nag, A and Hewitt, AW and Hohn, R and Venturini, C and Mirshahi, A and Ramdas, WD and Thorleifsson, G and Vithana, E and Khor, CC and Stefansson, AB and Liao, J and Haines, JL and Amin, N and Wang, YX and Wild, PS and Ozel, AB and Li, JZ and Fleck, BW and Zeller, T and Staffieri, SE and Teo, YY and Cuellar-Partida, G and Luo, X and Allingham, RR and Richards, JE and Senft, A and Karssen, LC and Zheng, Y and Bellenguez, C and Xu, L and Iglesias, AI and Wilson, JF and Kang, JH and van Leeuwen, EM and Jonsson, V and Thorsteinsdottir, U and Despriet, DD and Ennis, S and Moroi, SE and Martin, NG and Jansonius, NM and Yazar, S and Tai, ES and Amouyel, P and Kirwan, J and van Koolwijk, LM and Hauser, MA and Jonasson, F and Leo, P and Loomis, SJ and Fogarty, R and Rivadeneira, F and Kearns, L and Lackner, KJ and de Jong, PT and Simpson, CL and Pennell, CE and Oostra, BA and Uitterlinden, AG and Saw, SM and Lotery, AJ and Bailey-Wilson, JE and Hofman, A and Vingerling, JR and Maubaret, C and Pfeiffer, N and Wolfs, RC and Lemij, HG and Young, TL and Pasquale, LR and Delcourt, C and Spector, TD and Klaver, CC and Small, KS and Burdon, KP and Stefansson, K and Wong, TY and Viswanathan, A and Mackey, DA and Craig, JE and Wiggs, JL and van Duijn, CM and Hammond, CJ and Aung, T, BMES GWAS Group; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2, Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma, Nature Genetics, 46 pp. 1126-1130. ISSN 1546-1718 (2014) [Refereed Article]
Mackey, DA and Hewitt, AW, Genome-wide association study success in ophthalmology, Current Opinion in Ophthalmology, 25, (5) pp. 386-393. ISSN 1040-8738 (2014) [Refereed Article]
Springelkamp, H and Hohn, R and Mishra, A and Hysi, PG and Khor, C-C and Loomis, SJ and Bailey, JNC and Gibson, J and Thorleifsson, G and Janssen, SF and Luo, X and Ramdas, WD and Vithana, E and Nongpiur, ME and Montogmery, GW and Xu, L and Mountain, JE and Gharahkhani, P and Lu, Y and Amin, N and Karssen, LC and Sim, K-S and Van Leeuwen, EM and Iglesias, AI and Verhoeven, VJM and Hauser, MA and Loon, S-C and Despriet, DDG and Nag, A and Venturini, C and Sanfilippo, PG and Schillert, A and Kang, JH and Landers, J and Jonasson, F and Cree, AJ and van Koolwijk, LM and Rivadeneira, F and Souzeau, E and Jonsson, V and Menon, G and Weinreb, RN and de Jong, PT and Oostra, BA and Uitterlinden, AG and Hofman, A and Ennis, S and Thorsteinsdottir, U and Burdon, KP and Spector, TD and Mirshahi, A and Saw, SM and Vingerling, JR and Teo, YY and Haines, JL and Klaver, CC and Wolfs, RC and Lemij, HG and Tai, ES and Jansonius, NM and Jonas, JB and Cheng, CY and Aung, T and Viswanathan, AC and Craig, JE and Macgregor, S and Mackey, DA and Lotery, AJ and Stefansson, K and Bergen, AAB and Young, TL and Wiggs, JL and Pfeiffer, N and Wong, T-Y and Pasquale, LR and Hewitt, A and van Dujin, CM and 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, Nature Communications, 5 Article 4883. ISSN 2041-1723 (2014) [Refereed Article]
McCarthy, NS and Melton, PE and Cadby, G and Yazar, S and Franchina, M and Moses, EK and Mackey, DA and Hewitt, A, Meta-analysis of human methylation data for evidence of sex-specific autosomal patterns, BMC Genomics, 15 Article 981. ISSN 1471-2164 (2014) [Refereed Article]
Forward, H and Yazar, S and Hewitt, AW and Khan, J and Mountain, JA and Pesudovs, K and McKnight, CM and Tan, AX and Pennell, CE and Mackey, DA and Newnham, JP, Multiple prenatal ultrasound scans and ocular development: 20-year follow-up of a randomized controlled trial, Ultrasound in Obstetrics and Gynecology, 44, (2) pp. 166-170. ISSN 0960-7692 (2014) [Refereed Article]
Franchina, M and Yazar, S and Hunter, M and Gajdatsy, A and deSousa, JL and Hewitt, AW and Mackey, DA, Myopia and skin cancer are inversely correlated: results of the Busselton Healthy Ageing Study, Medical Journal of Australia, 200, (9) pp. 521-522. ISSN 0025-729X (2014) [Letter or Note in Journal]
McKnight, CM and Sherwin, JC and Yazar, S and Forward, H and Tan, AX and Hewitt, AW and Pennell, CE and McAllister, IL and Young, TL and Coroneo, MT and Mackey, DA, Myopia in Young Adults Is Inversely Related to an Objective Marker of Ocular Sun Exposure: The Western Australian Raine Cohort Study, American Journal of Ophthalmology, 158, (5) pp. 1079-1085.e2. ISSN 0002-9394 (2014) [Refereed Article]
Yazar, S and Hewitt, AW and Black, LJ and McKnight, CM and Mountain, JA and Sherwin, JC and Oddy, WH and Coroneo, MT and Lucas, RM and Mackey, DA, Myopia is associated with lower vitamin D status in young adults, Investigative Ophthalmology and Visual Science (Iovs), 55, (7) pp. 4552-4559. ISSN 0146-0404 (2014) [Refereed Article]
Hewitt, AW and Mackey, DA, Research: Keep PubMed running at all costs, Nature: International Weekly Journal of Science, 502, (7471) pp. 303. ISSN 0028-0836 (2014) [Letter or Note in Journal]
Franchina, M and Yazar, S and Booth, L and Wan, SL and Cox, K and Kang, MH and Hewitt, AW and Mackey, DA, Swimming goggle wear is not associated with an increased prevalence of glaucoma, BJO Online, 99, (2) pp. 255-257. ISSN 1468-2079 (2014) [Refereed Article]
Sanfilippo, PG and Chu, B-S and Bigault, O and Kearns, LS and Boon, M-Y and Young, TL and Hammond, CJ and Hewitt, AW and Mackey, DA, What is the appropriate age cut-off for cycloplegia in refraction?, Acta Ophthalmologica, 92, (6) pp. e458-e462. ISSN 1755-375X (2014) [Refereed Article]
Sanfilippo, PG and Hewitt, AW and Mountain, JA and Mackey, DA, A geometric morphometric assessment of hand shape and comparison to the 2D:4D digit ratio as a marker of sexual dimorphism, Twin Research and Human Genetics, 16, (2) pp. 590-600. ISSN 1832-4274 (2013) [Refereed Article]
Nag, A and Venturini, C and Hysi, PG and Arno, M and Aldecoa-Otalora Astarloa, E and MacGregor, S and Hewitt, AW and Young, TL and Mitchell, P and Viswanathan, AC and Mackey, DA and Hammond, CJ, Copy number variation at chromosome 5q21.2 is associated with intraocular pressure, Investigative Ophthalmology and Visual Science (Iovs), 54, (5) pp. 3607-3612. ISSN 0146-0404 (2013) [Refereed Article]
De Roach, JN and Mclaren, TL and Paterson, RL and O'Brien, EC and Hoffmann, L and Mackey, DA and Hewitt, AW and Lamey, TM, Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank, Clinical and Experimental Ophthalmology, 41, (5) pp. 476-483. ISSN 1442-6404 (2013) [Refereed Article]
Sim, X and Jensen, RA and Ikram, MK and Cotch, MF and Li, X and MacGregor, S and Xie, J and Smith, AV and Boerwinkle, E and Mitchell, P and Klein, R and Klein, BEK and Glazer, NL and Lumley, T and McKnight, B and Psaty, BM and de Jong, PTVM and Hofman, A and Rivadeneira, F and Uitterlinden, AG and van Duijn, CM and Aspelund, T and Eiriksdottir, G and Harris, TB and Jonasson, F and Launer, LJ and Attia, J and Baird, PN and Harrap, S and Holliday, EG and Inouye, M and Rochtchina, E and Scott, RJ and Viswanathan, A and Li, G and Smith, NL and Wiggins, KL and Kuo, JZ and Taylor, KD and Hewitt, AW and Martin, NG and Montgomery, GW and Sun, C and Young, TL and Mackey, DA and van Zuydam, NR and Doney, ASF and Palmer, CNA and Morris, AD and Rotter, JI and Tai, ES and Gudnason, V and Vingerling, JR and Siscovick, DS and Wang, JJ and Wong, TY and The Wellcome Trust Case Control Consortium; Global BPGen Consortium, Genetic loci for retinal arteriolar microcirculation, PLoS One, 8, (6) Article e65804. ISSN 1932-6203 (2013) [Refereed Article]
Lu, Y and Vitart, V and Burdon, KP and Khor, CC and Bykhovskaya, Y and Mirshahi, A and Hewitt, AW and Koehn, D and Hysi, PG and Ramdas, WD and Zeller, T and Vithana, EN and Cornes, BK and Tay, WT and Tai, ES and Cheng, CY and Liu, J and Foo, JN and Saw, SM and Thorleifsson, G and Stefansson, K and Dimasi, DP and Mills, RA and Mountain, J and Ang, W and Hoehn, R and Verhoeven, VJ and Grus, F and Wolfs, R and Castagne, R and Lackner, KJ and Springelkamp, H and Yang, J and Jonasson, F and Leung, DY and Chen, LJ and Tham, CC and Rudan, I and Vatavuk, Z and Hayward, C and Gibson, J and Cree, AJ and MacLeod, A and Ennis, S and Polasek, O and Campbell, H and Wilson, JF and Viswanathan, AC and Fleck, B and Li, X and Siscovick, D and Taylor, KD and Rotter, JI and Yazar, S and Ulmer, M and Li, J and Yaspan, BL and Ozel, AB and Richards, JE and Moroi, SE and Haines, JL and Kang, JH and Pasquale, LR and Allingham, RR and Ashley-Koch, A and Mitchell, P and Wang, JJ and Wright, AF and Pennell, C and Spector, TD and Young, TL and Klaver, CC and Martin, NG and Montgomery, GW and Anderson, MG and Aung, T and Willoughby, CE and Wiggs, JL and Pang, CP and Thorsteinsdottir, U and Lotery, AJ and Hammond, CJ and van Duijn, CM and Hauser, MA and Rabinowitz, YS and Pfeiffer, N and Mackey, DA and Craig, JE and Macgregor, S and Wong, TY, NEIGHBOR Consortium, Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus, Nature Genetics, 45, (2) pp. 155-163. ISSN 1061-4036 (2013) [Refereed Article]
Verhoeven, VJM and Hysi, PG and Wojciechowski, R and Fan, Q and Guggenheim, JA and Hohn, R and Macgregor, S and Hewitt, AW and Nag, A and Cheng, CY and Yonova-Doing, E and Zhou, X and Ikram, MK and Buitendijk, GHS and Mcmahon, G and Kemp, JP and Pourcain, BS and Simpson, CL and Makela, KM and Lehtimaki, T and Kahonen, M and Paterson, AD and Hosseini, SM and Wong, HS and Xu, L and Jonas, JB and Parssinen, O and Wedenoja, J and Yip, SP and Ho, DWH and Pang, CP and Chen, LJ and Burdon, KP and Craig, JE and Klein, BEK and Klein, R and Haller, T and Metspalu, A and Khor, CC and Tai, ES and Aung, T and Vithana, E and Tay, WT and Barathi, VAI and Chen, P and Li, R and Liao, J and Zheng, Y and Ong, RT and Doring, A and Evans, DM and Timpson, NJ and Verkerk, AJMH and Meitinger, T and Raitakari, O and Hawthorne, F and Spector, TD and Karssen, LC and Pirastu, M and Murgia, F and Ang, W and Mishra, A and Montgomery, GW and Pennell, CE and Cumberland, PM and Cotlarciuc, I and Mitchell, P and Wang, JJ and Schache, M and Janmahasathian, S and Igo Jr, RP and Lass, JH and Chew, E and Iyengar, SK and Gorgels, TGMF and Rudan, I and Hayward, C and Wright, AF and Polasek, O and Vatavuk, Z and Wilson, JF and Fleck, B and Zeller, T and Mirshahi, A and Muller, C and Uitterlinden, AG and Rivadeneira, F and Vingerling, JR and Hofman, A and Oostra, BA and Amin, N and Bergen, AAB and Teo, YY and Rahi, JS and Vitart, V and Williams, C and Baird, PN and Wong, TY and Oexle, K and Pfeiffer, N and Mackey, DA and Young, TL and Van Duijn, CM and Saw, S-M and Bailey-Wilson, JE and Stambolian, D and Klaver, CC and Hammond, CJ, Genome-wide meta-analyses of multi-ethnic cohorts identify multiple new susceptibility loci for refractive error and myopia, Nature Genetics, 45, (3) pp. 314-318. ISSN 1061-4036 (2013) [Refereed Article]
Souzeau, E and Burdon, KP and Dubowsky, A and Grist, S and Usher, B and Fitzgerald, JT and Crawford, A and Hewitt, AW and Goldberg, I and Mills, RA and Ruddle, JB and Landers, J and Mackey, DA and Craig, JE, Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an australasian disease registry, Ophthalmology, 120, (6) pp. 1135-1143. ISSN 0161-6420 (2013) [Refereed Article]
Oliver, VF and Franchina, M and Jaffe, AE and Branham, KE and Othman, M and Heckenlively, JR and Swaroop, A and Campochiaro, B and Vote, BJ and Craig, JE and Saffery, R and Mackey, DA and Qian, J and Zack, DJ and Hewitt, AW and Merbs, SL, Hypomethylation of the IL17RC Promoter in Peripheral Blood Leukocytes Is Not A Hallmark of Age-Related Macular Degeneration, Cell Reports, 5, (6) pp. 1527-1535. ISSN 2211-1247 (2013) [Refereed Article]
Lopes, MC and Hysi, PG and Verhoeven, VJM and Macgregor, S and Hewitt, AW and Montgomery, GW and Cumberland, P and Vingerling, JR and Young, TL and van Duijn, CM and Oostra, B and Uitterlinden, AG and Rahi, JS and Mackey, DA and Klaver, CCW and Andrew, T and Hammond, CJ, Identification of a candidate gene for astigmatism, Investigative Ophthalmology and Visual Science (Iovs), 54, (2) pp. 1260-1267. ISSN 0146-0404 (2013) [Refereed Article]
Yazar, S and Mishra, A and Ang, W and Kearns, LS and Mountain, JA and Pennell, C and Montgomery, GW and Young, TL and Hammond, CJ and Macgregor, S and Mackey, DA and 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, Molecular Vision, 19 pp. 1238-1246. ISSN 1090-0535 (2013) [Refereed Article]
Dave, A and Laurie, K and Staffieri, SE and Taranath, D and Mackey, DA and Mitchell, P and Wang, JJ and Craig, JE and Burdon, KP and Sharma, S, Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia, PLoS One, 8, (8) Article e72518. ISSN 1932-6203 (2013) [Refereed Article]
Cheng, C-Y and Schache, M and Ikram, MK and Young, TL and Guggenheim, JA and Vitart, V and MacGregor, S and Verhoeven, VJM and Barathi, VA and Liao, J and Hysi, PG and Bailey-Wilson, JE and St Pourcain, B and Kemp, JP and McMahon, G and Timpson, NJ and Evans, DM and Montgomery, GW and Mishra, A and Wang, YX and Wang, JJ and Rochtchina, E and Polasek, O and Wright, AF and Amin, N and Van Leeuwen, EM and Wilson, JF and Pennell, CE and Van Duijn, CM and De Jong, PTVM and Vingerling, JR and Zhou, X and Chen, P and Li, R and Tay, WT and Zheng, Y and Chew, M and Burdon, KP and Craig, JE and Iyengar, SK and Igo Jr, RP and Lass Jr, JH and Chew, EY and Haller, T and Mihailov, E and Metspalu, A and Wedenoja, J and Simpson, CL and Wojciechowski, R and Hohn, R and Mirshahi, A and Zeller, T and Pfeiffer, N and Lackner, KJ and Bettecken, T and Meitinger, T and Oexle, K and Pirastu, M and Portas, L and Nag, A and Williams, KM and Yonova-Doing, E and Klein, R and Klein, BE and Hosseini, SM and Paterson, AD and Makela, KM and Lehtimaki, T and Kahonen, M and Raitakari, O and Yoshimura, N and Matsuda, F and Chen, LJ and Pang, CP and Yip, SP and Yap, MKH and Meguro, A and Mizuki, N and Inoko, H and Foster, PJ and Zhao, JH and Vithana, E and Tai, ES and Fan, Q and Xu, L and Campbell, H and Fleck, B and Rudan, I and Aung, T and Hofman, A and Uitterlinden, AGI and Bencic, G and Khor, CC and Forward, H and Parssinen, O and Mitchell, P and Rivadeneira, F and Hewitt, AW and Williams, C and Oostra, BA and Teo, YY and Hammond, CJ and Stambolian, D and Mackey, DA and Klaver, CCW and Wong, TY and Saw, SM and Baird, PN, Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error, American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man, 93, (2) pp. 264-277. ISSN 0002-9297 (2013) [Refereed Article]
Yazar, S and Forward, H and Mcknight, CM and Tan, A and Soloshenko, A and Oates, SK and Ang, W and Sherwin, JC and Wood, D and Mountain, JA and Pennell, CE and Hewitt, AW and Mackey, DA, Raine eye health study: Design, methodology and baseline prevalence of ophthalmic disease in a birth-cohort study of young adults, Ophthalmic Genetics, 34, (4) pp. 199-208. ISSN 1381-6810 (2013) [Refereed Article]
Poulter, JA and Al-Araimi, M and Conte, I and Van Genderen, MM and Sheridan, E and Carr, IM and Parry, DA and Shires, M and Carrella, S and Bradbury, J and Khan, K and Lakeman, P and Sergouniotis, PI and Webster, AR and Moore, AT and Pal, B and Mohamed, MD and Venkataramana, A and Ramprasad, V and Shetty, R and Saktivel, M and Kumaramanickavel, G and Tan, A and Mackey, DA and Hewitt, AW and Banfi, S and Ali, M and Inglehearn, CF and Toomes, C, Recessive mutations in SLC38a8 cause foveal hypoplasia and optic nerve misrouting without albinism, American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man, 93, (6) pp. 1143-1150. ISSN 0002-9297 (2013) [Refereed Article]
Sherwin, JC and Hewitt, AE and McKnight, CM and Griffiths, LR and Coroneo, MT and Mackey, DA, Approach to evaluation the reliability and validity of conjunctival ultraviolet autofluorescence measurement, British Journal of Ophthalmology, 96, (9) pp. 1271. ISSN 0007-1161 (2012) [Letter or Note in Journal]
Sharma, S and Burdon, KP and Chidlow, G and Klebe, S and Crawford, A and Dimasi, DP and Dave, A and Martin, S and Javadiyan, S and Wood, JPM and Casson, R and Danoy, P and Griggs, K and Hewitt, AW and Landers, J and Mitchell, P and Mackey, DA and Craig, JE, Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye, Investigative Ophthalmology & Visual Science, 53, (8) pp. 4917-4925. ISSN 0146-0404 (2012) [Refereed Article]
Souzeau, E and Goldberg, I and Healey, PR and Mills, RAD and Landers, J and Graham, SL and Grigg, JRB and Usher, B and Straga, T and Crawford, A and Casson, RJ and Morgan, WH and Ruddle, JB and Coote, MA and White, A and Stewart, J and Hewitt, AW and Mackey, DA and Burdon, KP and Craig, JE, Australian and New Zealand Registry of Advanced Glaucoma: Methodology and recruitment, Clinical and Experimental Ophthalmology, 40, (6) pp. 569-575. ISSN 1442-6404 (2012) [Refereed Article]
Van Koolwijk, LME and Ramdas, WD and Ikram, MK and Jansonius, NM and Pasutto, F and Hysi, PG and MacGregor, S and Janssen, SF and Hewitt, A and Viswanathan, AC and Ten Brink, JB and Hosseini, SM and Amin, N and Despriet, DDG and Willemse-Assink, JJM and Kramer, R and Rivadeneira, FF and Struchalin, MV and Aulchenko, YS and Weisschuh, N and Zenkel, M and Mardin, CY and Gramer, E and Welge-Lussen, UC and Montgomery, GW and Carbonaro, F and Young, T and Bellenguez, C and McGuffin, PW and Foster, PJF and Topouzis, F and Mitchell, PG and Wang, J and Wong, T and Czudowska, MA and Hoffman, AF and Uitterlinden, AG and Wolfs, RCW and De Jong, PTVM and Oostra, BA and Paterson, AD and Mackey, DA and Bergen, AAB and Reis, AF and Hammond, CJ and Klaver, CCW and Vingerling, JR and Van Duijn, CM, Common genetic determinants of intraocular pressure and primary open-angle Glaucoma, PL o S Genetics (Print), 8, (5) Article e1002611. ISSN 1553-7390 (2012) [Refereed Article]
Dimasi, DP and Burdon, KP and Hewitt, AW and Fitzgerald, J and Wang, JJ and Healey, PR and Mitchell, P and Mackey, DA and Craig, JE, Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma, American Journal of Ophthalmology, 154, (5) pp. 833-842.e2. ISSN 1879-1891 (2012) [Refereed Article]
Mishra, A and Yazar, S and Hewitt, AW and Mountain, JA and Ang, W and Pennell, CE and Martin, NG and Montgomery, GW and Hammond, CJ and Young, TL and Macgregor, S and Mackey, DA, Genetic variants near PDGFRA are associated with corneal curvature in Australians, Investigative Ophthalmology and Visual Science (Iovs), 53, (11) pp. 7131-7136. ISSN 0146-0404 (2012) [Refereed Article]
Burdon, KP and Crawford, A and Casson, RJ and Hewitt, AW and Landers, J and Danoy, P and Mackey, DA and Mitchell, P and Healey, PR and Craig, JE, Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma, Ophthalmology, 119, (8) pp. 1539-1545. ISSN 0161-6420 (2012) [Refereed Article]
Franchina, M and Toniolo, J and Mackey, DA and Hewitt, AW, Google-based search of common blinding diseases: a reflection of public concerns, British Journal of Ophthalmology, 96, (11) pp. 1444-1445. ISSN 0007-1161 (2012) [Letter or Note in Journal]
Sanfilippo, PG and Hammond, CJ and Staffieri, SE and Kearns, LS and Melissa Liew, SH and Barbour, JM and Hewitt, AW and Ge, D and Snieder, H and Mackinnon, JR and Brown, SA and Lorenz, B and Spector, TD and Martin, NG and Wilmer, JB and Mackey, DA, Heritability of strabismus: Genetic influence is specific to eso-deviation and independent of refractive error, Twin Research and Human Genetics, 15, (5) pp. 624-630. ISSN 1832-4274 (2012) [Refereed Article]
Verhoeven, VJM and Hysi, PG and Saw, S and Vitart, V and Mirshahi, A and Guggenheim, JA and Cotch, MF and Yamashiro, K and Baird, PN and Mackey, DA and Wojciechowski, R and Ikram, MK and Hewitt, A and Duggal, P and Janmahasatian, S and Khor, CC and Fan, Q and Zhou, X and Young, T and Tai, ES and Goh, L and Li, Y and Aung, T and Vithana, EN and Teo, Y and Tay, W and Sim, X and Rudan, I and Hayward, C and Wright, AF and Polasek, O and Campbell, H and Wilson, JFF and Fleck, BW and Nakata, I and Yoshimura, N and Yamada, R and Matsuda, F and Ohno-Matsui, K and Nag, A and McMahon, G and St Pourcain, B and Lu, Y and Rahi, JS and Cumberland, PM and Bhattacharya, SS and Simpson, CL and Atwood, LD and Li, X and Raffel, LJ and Hammond, CJ and Klaver, CCW and Murgia, F and Portas, L and Despriet, DDG and Van Koolwijk, LME and Wolfram, C and Lackner, KJ and Tonjes, A and Magi, R and Lehtimaki, TJ and Kahonen, M and Esko, T and Metspalu, AK and Rantanen, T and Parssinen, O and Klein, BE and Meitinger, TA and Spector, TD and Oostra, BA and Smith, AV and De Jong, PTVM and Hofman, AF and Amin, N and Karssen, LC and Rivadneira, FF and Vingerling, JR and Eiriksdottir, G and Gudnason, VG and Doring, A and Bettecken, T and Uitterlinden, AG and Williams, CJ and Zeller, T and Castagne, R and Oexle, K and Van Duijn, CM and Iyengar, SK and Mitchell, PG and Wang, J and Hohn, R and Pfeiffer, N and Bailey-Wilson, JE and Stambolian, DE and Wong, T, Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium, Human Genetics, 131, (9) pp. 1467-1480. ISSN 1432-1203 (2012) [Refereed Article]
Forward, H and Hewitt, AW and Mackey, DA, Missing X and Y: A review of participant ages in population-based eye studies, Clinical and Experimental Ophthalmology, 40, (3) pp. 305-319. ISSN 1442-6404 (2012) [Refereed Article]
Sherwin, JC and McKnight, CM and Hewitt, AW and Griffiths, LR and Coroneo, MT and Mackey, DA, Reliability and validity of conjunctival ultraviolet autofluorescence measurement, British Journal of Ophthalmology, 96, (6) pp. 801-805. ISSN 0007-1161 (2012) [Refereed Article]
Mackey, DA and Warrington, NM and Hewitt, A and Oates, SK and Yazar, S and Soloshenko, A and Crawford, GJ and Mountain, JA and Pennell, CE, Role of the TCF4 gene intronic variant in normal variation of corneal endothelium, Cornea, 31, (2) pp. 162-166. ISSN 0277-3740 (2012) [Refereed Article]
Sherwin, JC and Reacher, MH and Keogh, RH and Khawaja, AP and Mackey, DA and Foster, PJ, The association between time spent outdoors and myopia in children and adolescents: A systematic review and meta-analysis, Ophthalmology, 119, (10) pp. 2141-2151. ISSN 0161-6420 (2012) [Refereed Article]
Sherwin, JC and Hewitt, AW and Coroneo, MT and Kearns, LS and Griffiths, LR and Mackey, DA, The association between time spent outdoors and myopia using a novel biomarker of outdoor light exposure, Investigative Ophthalmology and Visual Science, 53, (8) pp. 4363-4370. ISSN 0146-0404 (2012) [Refereed Article]
Wiggs, JL and Hewitt, AW and Fan, BJ and Wang, DY and Figueiredo Sena, DR and O'Brien, C and Realini, A and Craig, JE and Dimasi, DP and Mackey, DA and Haines, JL and 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, 7, (9) Article e45613. ISSN 1932-6203 (2012) [Refereed Article]
Mackey, DA and Wilkinson, CH and Kearns, LS and Hewitt, AW, Classification of iris colour: review and refinement of a classification schema, Clinical and Experimental Ophthalmology, 39, (5) pp. 462-471. ISSN 1442-6404 (2011) [Refereed Article]
Sherwin, JC and Hewitt, AW and Kearns, LS and Coroneo, MT and Griffiths, LR and Mackey, DA, Distribution of conjunctival ultraviolet autofluorescence in a population-based study: the Norfolk Island Eye Study, Eye, 25, (7) pp. 893-900. ISSN 0950-222X (2011) [Refereed Article]
Mackey, DA, Genetic eye research in Tasmania: a historical overview, Clinical and Experimental Ophthalmology, 40, (2) pp. 205-210. ISSN 1442-9071 (2011) [Refereed Article]
Burdon, KP and Macgregor, S and Hewitt, AW and Sharma, S and Chidlow, G and Mills, RA and Danoy, P and Casson, R and Viswanathan, AC and Liu, JZ and Landers, J and Henders, AK and Wood, J and Souzeau, E and Crawford, A and Leo, P and Wang, JJ and Rochtchina, E and Nyholt, DR and Martin, NG and Montgomery, GW and Mitchell, P and Brown, MA and Mackey, DA and Craig, JE, Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1, Nature Genetics, 43, (6) pp. 574-578. ISSN 1061-4036 (2011) [Refereed Article]
Van Bergen, NJ and Crowston, JG and Kearns, LS and Staffieri, SE and Hewitt, A and Cohn, AC and Mackey, DA and Trounce, IA, Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy, PL o S One, 6, (6) Article e21347. ISSN 1932-6203 (2011) [Refereed Article]
Sanfilippo, PG and Medland, SE and Hewitt, AW and Kearns, LS and Ruddle, JB and Sun, C and Hammond, CJ and Young, TL and Martin, NG and Mackey, DA, Ophthalmic Phenotypes and Representativeness of Twin Data for the General Population, Investigative Ophthalmology and Visual Science (Iovs), 52, (8) pp. 5565-5572. ISSN 0146-0404 (2011) [Refereed Article]
Mackey, DA and Hewitt, AW and Ruddle, JB and Vote, B and Buttery, RG and Toomes, C and Metlapally, R and Li, YJ and Tran-Viet, KN and Malecaze, F and Calvas, P and Rosenberg, T and Guggenheim, JA and Young, TL, Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family, Molecular Vision, 17 pp. 2118-2128. ISSN 1090-0535 (2011) [Refereed Article]
Sherwin, JC and Kelly, J and Hewitt, AW and Kearns, LS and Griffiths, LR and Mackey, DA, Prevalence and predictors of refractive error in a genetically isolated population: the Norfolk Island Eye Study, Clinical and Experimental Ophthalmology, 39, (8) pp. 734-742. ISSN 1442-6404 (2011) [Refereed Article]
Sherwin, JC and Kearns, LS and Hewitt, AW and Ma, Y and Kelly, J and Griffiths, LR and Mackey, DA, Prevalence of chronic ocular diseases in a genetic isolate: The Norfolk Island Eye Study (NIES), Ophthalmic Epidemiology, 18, (2) pp. 61-71. ISSN 0928-6586 (2011) [Refereed Article]
Staffieri, SE and Ruddle, JB and Kearns, LS and Barbour, JM and Edwards, TL and Paul, P and Mackey, DA, Telemedicine model to prevent blindness from familial glaucoma, Clinical and Experimental Ophthalmology, 39, (8) pp. 760-765. ISSN 1442-6404 (2011) [Refereed Article]
Sherwin, JC and Hewitt, AW and Kearns, LS and Griffiths, LR and Mackey, DA and Coroneo, MT, The association between pterygium and conjunctival ultraviolet autofluorescence: The Norfolk Island Eye Study, Acta Ophthalmologica, 91, (4) pp. 363-370. ISSN 1755-3768 (2011) [Refereed Article]
Mackey, DA and Sherwin, JC and Kearns, LS and Ma, Y and Kelly, J and Chu, B and MacMillan, R and Barbour, JM and Wilkinson, CH and Matovinovic, E and Cox, HC and Bellis, C and Lea, RA and Quinlan, S and Griffiths, LR and Hewitt, AW, The Norfolk Island Eye Study (NIES): rationale, methodology and distribution of ocular biometry (Biometry of the Bounty), Twin Research and Human Genetics, 14, (1) pp. 42-52. ISSN 1832-4274 (2011) [Refereed Article]
Pratap, DS and Lim, LL and Wang, JJ and Mackey, DA and Kearns, LS and Stawell, RJ and Burdon, KP and Mitchell, P and Craig, JE and Hall, AJ and Hewitt, AW, Wellcome Trust Case Control Consortium 2, The role of toll-like receptor variants in acute anterior uveitis, Molecular Vision, 17 pp. 2970-2977. ISSN 1090-0535 (2011) [Refereed Article]
Hysi, PG and Young, TL and Mackey, DA and Andrew, T and Fernandez-Medarde, A and Solouki, AM and Hewitt, AW and MacGregor, S and Vingerling, JR and Li, Y-J and Ikram, MK and Fai, LY and Sham, PC and Manyes, L and Porteros, A and Lopes, MC and Carbonaro, F and Fahy, SJ and Martin, NG and Van Dujin, CM and Spector, TD and Rahi, JS and Santos, E and Klaver, CCW and Hammond, CJ, A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25, Nature Genetics, 42, (10) pp. 902-905. ISSN 1061-4036 (2010) [Refereed Article]
Sanfilippo, PG and Cardini, A and Sigal, IA and Ruddle, JB and Chua, BE and Hewitt, AW and Mackey, DA, A geometric morphometric assessment of the optic cup in glaucoma, Experimental Eye Research, 91, (3) pp. 405-414. ISSN 0014-4835 (2010) [Refereed Article]
Sun, C and Ponsonby, AL and Brown, Shayne and Kearns, LS and MacKinnon, JR and Barbour, JM and Ruddle, JB and Hewitt, A and Wright, MJ and Martin, NG and Dwyer, T and Mackey, DA, Associations of birth weight with ocular biometry, refraction, and glaucomatous endophenotypes: The australian twins eye study, American Journal of Ophthalmology, 150, (6) pp. 909-916. ISSN 0002-9394 (2010) [Refereed Article]
Tang, L and Scheetz, TE and Mackey, DA and Hewitt, A and Fingert, JH and Kwon, YH and Quellec, G and Reinhardt, JM and Abramoff, MD, Automated quantification of inherited phenotypes from color images: A twin study of the variability of optic nerve head shape, Investigative Ophthalmology and Visual Science (Iovs), 51, (11) pp. 5870-5877. ISSN 0146-0404 (2010) [Refereed Article]
Xu, J and Ishikawa, H and Wollstein, G and Bilonick, RA and Kagemann, L and Craig, JE and Mackey, DA and Hewitt, AW and Schuman, JS, Automated volumetric evaluation of stereoscopic disc photography, Optics Express, 18, (11) pp. 11347-11359. ISSN 1094-4087 (2010) [Refereed Article]
Dimasi, DP and Burdon, KP and Hewitt, AW and Savarirayan, R and Healey, PR and Mitchell, P and Mackey, DA and Craig, JE, Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness, Molecular Vision, 16, (63-65) pp. 562-569. ISSN 1090-0535 (2010) [Refereed Article]
Lu, Y and Dimasi, DP and Hysi, PG and Hewitt, AW and Burdon, KP and Toh, T and Ruddle, JB and Li, YJ and Mitchell, P and Healey, PR and Montgomery, GW and Hansell, N and Spector, TD and Martin, NG and Young, TL and Hammond, CJ and Macgregor, S and Craig, JE and Mackey, DA, Common genetic variants near the brittle cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness, PL o S Genetics (Print), 6, (5) Article e1000947. ISSN 1553-7390 (2010) [Refereed Article]
Thorleifsson, G and Walters, GB and Hewitt, AW and Masson, G and Helgason, A and DeWan, A and Sigurdsson, A and Jonasdottir, A and Gudjonsson, SA and Magnusson, KP and Stefansson, H and Lam, DSC and Tam, POS and Gudmundsdottir, GJ and Southgate, L and Burdon, KP and Gottfredsdottir, MS and Aldred, MA and Mitchell, P and St Clair, D and Collier, DA and Tang, N and Sveinsson, O and Macgregor, S and Martin, NG and Cree, AJ and Gibson, J and MacLeod, A and Jacob, A and Ennis, S and Young, TL and Chan, JCN and Karwatowski, WSS and Hammond, CJ and Thordarson, K and Zhang, M and Wadelius, C and Lotery, AJ and Trembath, RC and Pang, CP and Hoh, J and Craig, JE and Kong, A and Mackey, DA and Jonasson, F and Thorsteinsdottir, U and Stefansson, K, Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma, Nature Genetics, 42, (10) pp. 906-910. ISSN 1061-4036 (2010) [Refereed Article]
Macgregor, S and Hewitt, AW and Hysi, PG and Ruddle, JB and Medland, SE and Henders, AK and Gordon, SD and Andrew, T and McEvoy, B and Sanfilippo, PG and Carbonaro, F and Tah, V and Li, YJ and Bennett, SL and Craig, JE and Montgomery, GW and Tran-Viet, KN and Brown, NL and Spector, TD and Martin, NG and Young, TL and Hammond, CJ and Mackey, DA, Genome-wide association identifies ATOH7 as a major gene determining human optic disc size, Human Molecular Genetics, 19, (13) pp. 2716-2724. ISSN 0964-6906 (2010) [Refereed Article]
Tischfield, MA and Baris, HN and Wu, C and Rudolph, G and Van Maldergem, L and He, W and Chan, WM and Andrews, C and Demer, JL and Robertson, RL and Mackey, DA and Ruddle, JB and Bird, TD and Gottlob, I and Pieh, C and Traboulsi, EI and Pomeroy, SL and Hunter, DG and Soul, JS and Newlin, A and Sabol, LJ and Doherty, EJ and de Uzcategui, CE and de Uzcategui, N and Collins, MLZ and Sener, EC and Wabbels, B and Hellebrand, H and Meitinger, T and de Berardinis, T and Magli, A and Schiavi, C and Pastore-Trossello, M and Koc, F and Wong, AM and Levin, AV and Geraghty, MT and Descartes, M and Flaherty, M and Jamieson, RV and Moller, HU and Meuthen, I and Callen, DF and Kerwin, J and Lindsay, S and Meindl, A and Gupta, ML and Pellman, D and Engle, EC, Human TUBB3 mutations perturb microtubule dynamics, kinesin interations, and axon guidance, Cell, 140, (1) pp. 74-87. ISSN 0092-8674 (2010) [Refereed Article]
Hewitt, AW and Sanfilippo, P and Ring, M and Mackey, DA and Craig, JE, Mortality in primary open-angle glaucoma: two cupped discs and a funeral', Eye, 24, (1) pp. 59-63. ISSN 0950-222X (2010) [Refereed Article]
Dimasi, DP and Chen, JY and Hewitt, AW and Klebe, S and Davey, R and Stirling, J and Thompson, E and Forbes, R and Tan, TY and Savarirayan, R and Mackey, DA and Healey, PR and Mitchell, P and Burdon, KP and Craig, JE, Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes, Human Genetics, 127, (1) pp. 33-44. ISSN 0340-6717 (2010) [Refereed Article]
Kistos, G and Petrou, Z and Grigoriadou, M and Samples, JR and Hewitt, AW and Kokotas, H and Giannoulia-Karantana, A and Mackey, DA and Wirtz, MK and Moschou, M and Ioannidis, JPA and Petersen, MB, Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece, Clinical Ophthalmology, 4, (1) pp. 171-178. ISSN 1177-5467 (2010) [Refereed Article]
Hewitt, AW and Wu, J and Green, CM and Lai, T and Kearns, LS and Craig, JE and Mackey, DA, Systemic disease associations of familial and sporadic glaucoma: the Glaucoma Inheritance Study in Tasmania, Acta Ophthalmologica, 88, (1) pp. 70-74. ISSN 1755-375X (2010) [Refereed Article]
Burdon, KP and Hewitt, AW and Mackey, DA and Mitchell, P and Craig, JE, Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma, Molecular Vision, 16 pp. 2286-2293. ISSN 1090-0535 (2010) [Refereed Article]
Sanfilippo, PG and Hewitt, AW and Hammond, CJ and Mackey, DA, The heritability of ocular traits, Survey of Ophthalmology, 55, (6) pp. 561-583. ISSN 0039-6257 (2010) [Refereed Article]
Charlesworth, J and Kramer, PL and Dyer, T and Diego, V and Samples, JR and Craig, JE and Mackey, DA and Hewitt, AW and Blangero, J and Wirtz, MK, The path to open-angle glaucoma gene discovery: Endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness, Investigative Ophthalmology and Visual Science, 51, (7) pp. 3509-3514. ISSN 0146-0404 (2010) [Refereed Article]
Sun, C and Ponsonby, AL and Wong, TY and Brown, Shayne and Kearns, LS and Cochrane, JA and MacKinnon, JR and Ruddle, JB and Hewitt, AW and Liew, G and Dwyer, T and Scurrah, K and Mackey, DA, Effect of birth parameters on retinal vascular caliber: the twins eye study in Tasmania, Hypertension, 53, (3) pp. 487-493. ISSN 0194-911X (2009) [Refereed Article]
Medland, SE and Duffy, DL and Wright, MJ and Geffen, GM and Hay, DA and Levy, F and van-Beijsterveldt, CEM and Willemsen, G and White, V and Hewitt, A and Mackey, DA and Bailey, JM and Slutske, WS and Nyholt, DR and Treloar, SA and Martin, NG and Boomsman, DI, Genetic influences on handedness: Data from 25,732 Australian and Dutch twin families, Neuropsychologia: An International Journal in Behavioural Neuroscience, 47, (2) pp. 330-337. ISSN 0028-3932 (2009) [Refereed Article]
Landers, JA and Hewitt, AW and Dimasi, DP and Charlesworth, JC and Straga, T and Mills, RAD and Savarirayan, R and Mackey, DA and Burdon, KP and Craig, JE, Heritability of Central Corneal Thickness in Nuclear Families , Investigative Ophthalmology and Visual Science (Iovs), 50, (9) pp. 4087-4090 . ISSN 0146-0404 (2009) [Refereed Article]
Fitzgerald, LM and Patterson, B and Thomson, RJ and Polanowski, AM and Quinn, SJ and Brohede, J and Thornton, T and Challis, D and Mackey, DA and Dwyer, T and Foote, SJ and Hannan, GN and Stankovich, J and McKay, JD and Dickinson, JL, Identification of a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease, European Journal of Human Genetics, 17 pp. 368-377. ISSN 1018-4813 (2009) [Refereed Article]
Sanfilippo, PG and Cardini, A and Hewitt, A and Crowston, JG and Mackey, DA, Optic disc morphology - Rethinking shape, Progress in Retinal and Eye Research, 28, (4) pp. 227-248. ISSN 1350-9462 (2009) [Refereed Article]
Sherwin, JC and Hewitt, A and Bennett, SL and Baird, PN and Craig, JE and Mackey, DA, Primary open angle glaucoma in subjects harbouring the predicted GLC1L haplotype reveals a normotensive phenotype, Clinical and Experimental Ophthalmology, 37, (2) pp. 201-207. ISSN 1442-6404 (2009) [Refereed Article]
Sun, C and Zhu, G and Wong, TY and Hewitt, A and Ruddle, JB and Hodgson, L and Montgomery, GW and Young, TL and Hammond, CJ and Craig, JE and Martin, NG and He, M and Mackey, DA, Quantitative genetic analysis of the retinal vascular caliber: The australian twins eye study, Hypertension, 54, (4) pp. 788-795. ISSN 0194-911X (2009) [Refereed Article]
Sun, C and Wang, JJ and Mackey, DA and Wong, TY, Retinal vascular caliber: systemic, environmental, and genetic associations, Survey of Ophthalmology, 54, (1) pp. 74-95. ISSN 0039-6257 (2009) [Refereed Article]
O'Neill, E and Mackey, DA and Connell, PP and Hewitt, A and Danesh-Meyer, HV and Crowston, JG, The optic nerve head in hereditary optic neuropathies, Nature Reviews Neurology, 5, (5) pp. 277-278. ISSN 1759-4758 (2009) [Refereed Article]
Mackey, DA and Mackinnon, JR and Brown, SA and Kearns, LS and Ruddle, JB and Sanfilippo, PG and Sun, C and Hammond, CJ and Young, TL and Martin, NG and Hewitt, A, Twins Eye Study in Tasmania (TEST): Rationale and methodology to recruit and examine twins, Twin Research and Human Genetics, 12, (5) pp. 441-454. ISSN 1832-4274 (2009) [Refereed Article]
Craig, JE and Friend, KL and Gecz, J and Rattray, KM and Troski, M and Mackey, DA and Burdon, KP, A novel locus for X-linked congenital cataract on Xq24, Molecular Vision, 14 pp. 721-726. ISSN 1090-0535 (2008) [Refereed Article]
Hewitt, AW and Sharma, S and Burdon, KP and Wang, JJ and Baird, PN and Dimasi, DP and Mackey, DA and Mitchell, P and Craig, JE, Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people, Human Molecular Genetics, 17, (5) pp. 710-716. ISSN 0964-6906 (2008) [Refereed Article]
Burdon, KP and Sharma, S and Hewitt, AW and McMellon, AE and Wang, JJ and Mackey, DA and Mitchell, P and Craig, JE, Genetic analysis of the clusterin gene in pseudoexfoliation syndrome, Molecular Vision, 14, (205-06) pp. 1727-1736. ISSN 1090-0535 (2008) [Refereed Article]
Zhu, G and Hewitt, AW and Ruddle, JB and Kearns, LS and Brown, SA and Mackinnon, JR and Chen, CY and Hammond, CJ and Craig, JE and Montgomery, GW and Martin, NG and Mackey, DA, Genetic dissection of myopia: evidence for linkage of ocular axial length to chromosome 5q, Ophthalmology, 115, (6) pp. 1053-1057. ISSN 0161-6420 (2008) [Refereed Article]
Sherwin, JA and Hewitt, A and Ruddle, JB and Mackey, DA, Genetic isolates in ophthalmic diseases, Ophthalmic Genetics, 29, (4) pp. 149-161. ISSN 1381-6810 (2008) [Contribution to Refereed Journal]
He, M and Wang, D and Zheng, Y and Zhang, J and Yin, Q and Huang, W and Mackey, DA and Foster, PJ, Heritability of anterior chamber depth as an intermediate phenotype of angle-closure in Chinese: the Guangzhou Twin Eye Study, Investigative Ophthalmology & Visual Science, 49, (1) pp. 81-86. ISSN 0146-0404 (2008) [Refereed Article]
Carbonaro, F and Andrew, T and Mackey, DA and Spector, TD and Hammond, CJ, Heritability of intraocular pressure: a classical twin study, British Journal Of Ophthalmology, 92, (8) pp. 1125-8. ISSN 0007-1161 (2008) [Refereed Article]
He, M and Ge, J and Wang, D and Zhang, J and Hewitt, AW and Hur, Y and Mackey, DA and Foster, PJ, Heritability of the iridotrabecular angle width measured by optical coherence tomography in Chinese children: the Guangzhou twin eye study, Investigative Ophthalmology & Visual Science, 49, (4) pp. 1356-1361. ISSN 0146-0404 (2008) [Refereed Article]
Hewitt, AW and Mackey, DA and Craig, JE, Myocilin allele-specific glaucoma phenotype database, Human Mutation, 29, (2) pp. 207-211. ISSN 1059-7794 (2008) [Refereed Article]
Carbonaro, F and Andrew, T and Mackey, DA and Spector, TD and Hammond, CJ, The Heritability of Corneal Hysteresis and Ocular Pulse Amplitude, Ophthalmology, 115, (9) pp. 1545-1549. ISSN 0161-6420 (2008) [Refereed Article]
Cohn, AC and Toomes, C and Hewitt, AW and Kearns, LS and Inglehearn, CF and Craig, JE and Mackey, DA, The natural history of OPA1-related autosomal dominant optic atrophy, British Journal of Ophthalmology, 92, (10) pp. 1333-1336. ISSN 0007-1161 (2008) [Refereed Article]
Mackey, DA and Green, CM and Craig, JE and Hewitt, A, The pathogenesis of the glaucoma: nature versus nurture, Clinical and Experimental Ophthalmology pp. 297. ISSN 1442-6404 (2008) [Letter or Note in Journal]
Burdon, KP and Sharma, S and Chen, CS and Dimasi, DP and Mackey, DA and Craig, JE, A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site, Human Mutation, 28, (7) pp. 742. ISSN 1098-1004 (2007) [Refereed Article]
Balaratnasingam, C and Morgan, WH and Nelson, J and Mackey, DA and Dimasi, DP and Lam, G, Abnormal iris processes may be a marker of glaucoma gene carrier status in some cases of primary infantile glaucoma, Ophthalmic Genetics, 28, (3) pp. 157-162. ISSN 1381-6810 (2007) [Refereed Article]
Cohn, AC and Toomes, C and Potter, C and Towns, KV and Hewitt, AW and Inglehearn, CF and Craig, JE and Mackey, DA, Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations, American Journal of Ophthalmology, 143, (4) pp. 656-662. ISSN 0002-9394 (2007) [Refereed Article]
Mackey, DA, Central corneal thickness and glaucoma in the Australian Aboriginal population, Clinical and Experimental Ophthalmology, 35 pp. 691-692. ISSN 1442-6404 (2007) [Letter or Note in Journal]
Hewitt, AW and Poulsen, JP and Alward, WLM and Bennett, SL and Budde, WM and Cooper, RL and Craig, JE and Fingert, JH and Foster, PJ and Garway-Heath, DF and Green, CM and Hammond, CJ and Hayreb, SS and Jonas, JB and Kaufman, PL and Miller, NR and Morgan, WH and Newman, NJ and Quigley, HA and Samples, JR and Spaeth, GL and Pesudovs, K and Mackey, DA, Heritable features of the optic disc: a novel twin method for determining genetic significance, Investigative Ophthalmology & Visual Science, 48, (6) pp. 2469-2475. ISSN 0146-0404 (2007) [Refereed Article]
Green, CM and Kearns, LS and Wu, J and Barbour, JM and Wilkinson, RM and Ring, M and Craig, JE and Wong, TL and Hewitt, AW and Mackey, DA, How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania, Clinical and Experimental Ophthalmology, 35, (9) pp. 793-799. ISSN 1442-6404 (2007) [Refereed Article]
Hewitt, AW and Samples, JR and Allingham, RR and Jarvela, I and Kitsos, G and Krishnadas, SR and Richards, JE and Lichter, PR and Petersen, MB and Sundaresan, P and Wiggs, JL and Mackey, DA and Wirtz, MK, Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds, Molecular Vision, 13, (50-51) pp. 487-492. ISSN 1090-0535 (2007) [Refereed Article]
Hewitt, AW and Bennett, SL and Richard, JE and Dimasi, DP and Booth, AP and Inglehearn, C and Anwar, R and Yamamoto, T and Fingert, JH and Heon, E and Craig, JE and Mackey, DA, Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals, Archives of Ophthalmology, 125, (1) pp. 98-104. ISSN 0003-9950 (2007) [Refereed Article]
Fingert, JH and Alward, WLM and Kwon, YH and Shankar, SP and Andorf, JL and Mackey, DA and Sheffield, VC and Stone, EM, No association between variations in the WDR36 gene and primary open-angle glaucoma, Archives of Ophthalmology, 28, (3) pp. 434-436. ISSN 0003-9950 (2007) [Contribution to Refereed Journal]
Hewitt, AW and Kearns, LS and Jamieson, RV and Williamson, KA and Heyningen, VV and Mackey, DA, PAX6 mutations may be associated with high myopia, Ophthalmic Genetics, 28, (3) pp. 179-182. ISSN 1381-6810 (2007) [Contribution to Refereed Journal]
Dimasi, DP and Hewitt, AW and Straga, T and Pater, J and MacKinnon, JR and Elder, JE and Casey, T and Mackey, DA and Craig, JE, Prevalence of CYP1B1 mutations in Australian patients with primary congenial glaucoma, Clinical Genetics, 72, (3) pp. 255-260. ISSN 0009-9163 (2007) [Refereed Article]
Bennett, SL and Hewitt, A and Poulsen, JL and Kearns, LS and Morgan, JE and Craig, JE and Mackey, DA, Screening for glaucomatous disc changes prior to diagnosis of glaucoma in myocilin pedigrees, Archives of Ophthalmology, 125, (1) pp. 112-116. ISSN 0003-9950 (2007) [Refereed Article]
Ponsonby, AL and Brown, SA and Kearns, LS and MacKinnon, JR and Scotter, LW and Cochrane, JA and Mackey, DA, The Association Between Maternal Smoking in Pregnancy, Other Early Life Characteristics and Childhood Vision: The Twins Eye Study in Tasmania, Ophthalmic Epidemiology, 14, (6) pp. 351-359. ISSN 0928-6586 (2007) [Refereed Article]
Hewitt, AW and Bennett, SL and Fingert, JH and Cooper, RL and Stone, EM and Craig, JE and Mackey, DA, The optic nerve head in myocilin glaucoma, Investigative Ophthalmology & Visual Science, 48, (1) pp. 238-243. ISSN 0146-0404 (2007) [Refereed Article]
Mackey, DA, 2005 Gregg Lecture: Congenital cataract - from rubella to genetics, Clinical and Experimental Ophthalmology, 34, (3) pp. 199-207. ISSN 1442-6404 (2006) [Refereed Article]
Hewitt, AW and Dimasi, DP and Mackey, DA and Craig, JE, A Glaucoma case-control study of the WDR36 gene D658G sequence variant, American Journal of Ophthalmology, 142, (2) pp. 324-325. ISSN 0002-9394 (2006) [Refereed Article]
Petersen, MB and Kitos, G and Samples, JR and Gaudette, ND and Economou-Petersen, E and Sykes, R and Rust, K and Grigoriadou, M and Aperis, G and Cboi, D and Psilas, K and Craig, JE and Kramer, PL and Mackey, DA and Wirtz, MK, A Large GLC1C Greek Family with a Myocilin T377M Mutation: Inheritance and Phenotypic Variability, Investigative Ophthalmology & Visual Science, 47, (2) pp. 620-625. ISSN 0146-0404 (2006) [Refereed Article]
Hewitt, AW and Bennett, SL and Dimasi, DP and Craig, JE and Mackey, DA, A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases, American Journal of Ophthalmology, 141, (2) pp. 402-403. ISSN 0002-9394 (2006) [Refereed Article]
Hewitt, AW and Craig, JE and Mackey, DA, Complex genetics of complex traits: the case of primary open-angle glaucoma, Clinical and Experimental Ophthalmology, 34, (5) pp. 472-484. ISSN 1442-6404 (2006) [Refereed Article]
Charlesworth, JC and Stankovich, J and Mackey, DA and Craig, JE and Haybittel, M and Westmore, RN and Sale, MM, Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian Family, Ophthalmologica, 220, (1) pp. 23-30. ISSN 0030-3755 (2006) [Refereed Article]
Wu, J and Hewitt, A and Green, CM and Ring, M and McCartney, PJ and Craig, JE and Mackey, DA, Disease Severity of Familial Glaucoma Compared With Sporadic Glaucoma, Archives of Ophthalmology, 124, (7) pp. 950-954 . ISSN 0003-9950 (2006) [Refereed Article]
Hewitt, AW and MacKinnon, JR and Giubilato, A and Elder, JE and Craig, JE and Mackey, DA, Familial transmission risk of infantile glaucoma in Australia, Ophthalmic Genetics, 27, (3) pp. 93-97. ISSN 1381-6810 (2006) [Refereed Article]
Self, JE and Ennis, S and Collins, A and Shawkat, F and Harris, CM and Mackey, DA and Hodgkins, PR and Temple, IK and Chen, XL and Lotery, AJ, Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3, Molecular Vision, 12, (136-38) pp. 1211-1216. ISSN 1090-0535 (2006) [Refereed Article]
Dickinson, JL and Sale, MM and Passmore, A and Fitzgerald, LM and Wheatley, CM and Burdon, KP and Craig, JE and Tengtrisorn, S and Carden, SM and Franzco, HM and Mackey, DA, Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity, Clinical and Experimental Ophthalmology, 34, (7) pp. 682-688. ISSN 1442-6404 (2006) [Refereed Article]
Mimiwati, Z and Mackey, DA and Craig, JE and MacKinnon, JR and Rait, JL and Liebelt, JE and Ayala-Lugo, R and Vollrath, D and Richards, JE, Nail-patella syndrome and its association with glaucoma: a review of eight families, British Journal of Ophthalmology, 90, (12) pp. 1505-1511. ISSN 0007-1161 (2006) [Refereed Article]
Sharma, S and Ang, SL and Shaw, M and Mackey, DA and Gecz, J and McAvoy, JW and Craig, JE, Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions, Human Molecular Genetics, 15, (12) pp. 1972-1983. ISSN 0964-6906 (2006) [Refereed Article]
Burdon, KP and McKay, JD and Wirth, MG and Russell-Eggit, IM and Bhatti, S and Ruddle, JB and Dimasi, D and Mackey, DA and Craig, JE, The PITX3 gene in posterior polar congenital cataract in Australia, Molecular Vision, 12, (42-45) pp. 367-371. ISSN 1090-0535 (2006) [Refereed Article]
Craig, JE and Hewitt, AW and Dimasi, DP and Howell, N and Toomes, C and Cohn, AC and Mackey, DA, The role of the Met98Lys optineurin variant in inherited optic nerve diseases, British Journal of Ophthalmology, 90, (11) pp. 1420-1424. ISSN 0007-1161 (2006) [Refereed Article]
Hewitt, AW and Traill, A and Cooper, RL and Morgan, JE and Mackey, DA, Tools for cup:disc ratio measurement. Letters to the Editor, Clinical and Experimental Ophthalmology, 34 pp. 288-289. ISSN 1442-6404 (2006) [Letter or Note in Journal]
Baird, PN and Richardson, AJ and Mackey, DA and Craig, JE and Faucher, M and Raymond, V, A Common Disease Haplotype for the Q368STOP Mutation of the Myocilin Gene in Australian and Canadian Glaucoma Families, American Journal of Ophthalmology , 140, (4) pp. 760-762. ISSN 0002-9394 (2005) [Refereed Article]
Toh, TY and Liew, SHM and MacKinnon, JR and Hewitt, AW and Poulsen, JL and Spector, TD and Gilbert, CE and Craig, JE and Hammond, CJ and Mackey, DA, Central Corneal Thickness Is Highly Heritable: The Twin Eye Studies, Investigative Ophthalmology & Visual Science, 46, (10) pp. 3718-3722. ISSN 0146-0404 (2005) [Refereed Article]
Cohn, AC and Kearns, LS and Savarirayan, R and Ryan, J and Craig, JE and Mackey, DA, Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter, Ophthalmic Genetics, 26, (1) pp. 45-53. ISSN 1381-6810 (2005) [Professional, Non Refereed Article]
Baird, PN and Foote, SJ and Mackey, DA and Craig, JE and Speed, TP and Bureau, A, Evidence for a novel glaucoma locus at chromosome 3p21-22, Human Genetics, 117, (2-3) pp. 249-257. ISSN 0340-6717 (2005) [Refereed Article]
Hewitt, AW and Fitzgerald, LM and Scotter, LW and Mulhall, LE and McKay, JD and Mackey, DA, Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia, Clinical and Experimental Ophthalmology, 33, (3) pp. 233-239. ISSN 1442-6404 (2005) [Refereed Article]
Dimasi, DP and Hewitt, AW and Green, CM and Mackey, DA and Craig, JE, Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma, Journal of Medical Genetics, 42, (9) pp. e55-e58. ISSN 0022-2593 (2005) [Refereed Article]
Charlesworth, JC and Dyer, TD and Stankovich, J and Blangero, J and Mackey, DA and Craig, JE and Green, CM and Foote, SJ and Baird, PN and Sale, MM, Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree, Investigative Ophthalmology & Visual Science, 46, (10) pp. 3723-3729. ISSN 0146-0404 (2005) [Refereed Article]
Krafchak, CM and Pawar, H and Moroi, SE and Sugar, A and Lichter, PR and Mackey, DA and Main, S and Nairus, T and Elner, V and Schteingart, MT and Downs, CA and Kijek, TG and Johnson, JM and Trager, EH and Rozsa, FW and Mandal, MN and Epstein, MP and Vollrath, D and Ayyagari, R and Boehnke, M and Richards, JE, Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells, American Journal of Human Genetics, 77, (5) pp. 694-708. ISSN 0002-9297 (2005) [Refereed Article]
Toh, TY and Kearns, LS and Scotter, LW and Mackey, DA, Post-Cycloplegia Myopic Shift in an Older Population, Ophthalmic Epidemiology, 12, (3) pp. 215-219. ISSN 0928-6586 (2005) [Refereed Article]
Baird, PN and Richardson, AJ and Craig, JE and Rochtchina, E and Mackey, DA and Mitchell, P, The Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study, American Journal of Ophthalmology , 139, (6) pp. 1125-1126. ISSN 0002-9394 (2005) [Refereed Article]
McKay, JD and Patterson, B and Craig, JE and Russell-Eggitt, E and Wirth, MG and Burdon, KP and Hewitt, A and Cohn, AC and Kerdraon, Y and Mackey, DA, The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes, British Journal of Ophthalmology, 89, (7) pp. 831-834. ISSN 0007-1161 (2005) [Refereed Article]
Burdon, KP and Wirth, MG and Mackey, DA and Russell-Eggitt, IM and Craig, JE and Elder, JE and Dickinson, JL and Sale, MM, A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance, Journal of Medical Genetics, 41, (8) pp. e106-109. ISSN 0022-2593 (2004) [Refereed Article]
Baird, PN and Richardson, AJ and Craig, JE and Mackey, DA and Rochtchina, E and Mitchell, P, Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study, Clinical and Experimental Ophthalmology, 32, (5) pp. 518-522. ISSN 1442-6404 (2004) [Refereed Article]
Healey, DL and Craig, JE and Wilkinson, CH and Stone, EM and Mackey, DA, Attitudes to Predictive DNA Testing for Myocilin Glaucoma Experience with a Large Australian Family, Journal of Glaucoma, 13, (4) pp. 304-311. ISSN 1057-0829 (2004) [Refereed Article]
Yamada, K and Chan, WM and Andrews, C and Bosley, TM and Sener, EC and Zwaan, JT and Mullaney, PB and Ozturk, BT and Akarsu, N and Sabol, LJ and Demer, JL and Sullivan, TJ and Gottlob, I and Roggenkaemper, P and Mackey, DA and de Uzcategui, CE and Uzcategui, N and Ben-Zeev, B and Traboulsi, EI and Magli, A and de Berardinis, T and Gagliardi, V and Awastbi-Patney, S and Vogel, MC and Rizzo III, JF and Engle, EC, Identification of KIF21A Mutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3), Investigative Ophthalmology & Visual Science, 45, (7) pp. 2218-2223. ISSN 0146-0404 (2004) [Refereed Article]
Smallcombe, KA and Kearns, LS and Mackey, DA, Introducing a new retinitis pigmentosa patient information website, Clinical and Experimentalal Ophthalmology, 33, (2) pp. 227. ISSN 1442-6404 (2004) [Letter or Note in Journal]
Burdon, KP and Wirth, MG and Mackey, DA and Russell-Eggitt, IM and Craig, JE and Elder, JE and Dickinson, JL and Sale, MM, Investigation of crystallin genes in familial cataract, and report of two disease associated mutations, British Journal of Ophthalmology , 88, (1) pp. 79-83. ISSN 0007-1161 (2004) [Refereed Article]
Wan, PYW and Howell, N and Mackey, DA and Norby, S and Rosenberg, T and Turnbull, DM and Chinnery, PF, Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees, Journal of Medical Genetics, 41, (4) pp. e41-45. ISSN 1468-6244 (2004) [Refereed Article]
Toomes, C and Bottomley, HM and Jackson, RM and Towns, KV and Scott, S and Mackey, DA and Craig, JE and Jiang, L and Yang, ZL and Trembath, R and Woodruff, G and Gregory-Evans, CY and Gregory-Evans, K and Parker, MJ and Downey, LM and Zhang, K and Inglehearn, CF, Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q, American Journal of Human Genetics, 74, (4) pp. 721-730. ISSN 0002-9297 (2004) [Refereed Article]
MacKinnon, JR and Giubilato, A and Elder JE, CH and Craig, JE and Mackey, DA, Primary infantile glaucoma in an Australian population, Clinical and Experimental Ophthalmology, 32, (1) pp. 14-18. ISSN 1442-6404 (2004) [Refereed Article]
Connell, BJ and Wilkinson, RM and Barbour, JM and Scotter, LW and Poulsen, JL and Wirth, MG and Essex, RW and Savarirayan, R and Mackey, DA, Research Report. Are Duane syndrome and infantile esotropia allelic?, Ophthalmic Genetics, 25, (3) pp. 189-198. ISSN 1381-6810 (2004) [Refereed Article]
Toomes, C and Bottomley, HM and Scott, S and Mackey, DA and Craig, JE and Appukuttan, B and Stout, JT and Flaxel, CJ and Zhang, K and Black, GCM and Fryer, A and Downey, LM and Inglebearn, CF, Spectrum and Frequency of FZD4 Mutations in Familial Exudative Vitreorectinopathy, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 45, (7) pp. 2083-2090. ISSN 0146-0404 (2004) [Refereed Article]
Baird, PN and Craig, JE and Richardson, AJ and Ring, MA and Sim, P and Stanwix, SP and Foote, SJ and Mackey, DA, Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin, Human genetics, 112, (2) pp. 110-116. ISSN 0340-6717 (2003) [Refereed Article]
Ruddle, JB and Mackey, DA and Downie, NA, Clinical progression of keratoconus following a Vth nerve palsy, Clinical and Experimental Ophthalmology, 31, (4) pp. 363-365. ISSN 1442-6404 (2003) [Refereed Article]
Alward, WL and Kwon, YH and Kawase, K and Craig, JE and Hayreh, SS and Johnson, AT and Khanna, CL and Yamamoto, T and Mackey, DA and Roos, BR and Affatigato, LM and Sheffield, VC and Stone, EM, Evaluation of optineurin sequence variations in 1048 patients with open-angle glaucoma, American Journal of Ophthalmology, 136, (5) pp. 904-910. ISSN 0002-9394 (2003) [Refereed Article]
Mackey, DA and Healey, DL and Fingert, JH and Coote, MA and Wong, TL and Wilkinson, CH and McCartney, PJ and Rait, JL and de Graaf, AP and Stone, ME and Craig, JE, Glaucoma phenotype in pedigrees with the Myocilin Thr377Met mutation, Archives of ophthalmology, 121, (8) pp. 1172-1180. ISSN 0003-9950 (2003) [Refereed Article]
Craig, JE and Clark, JB and McLeod, JL and Kirkland, MA and Grant, G and Elder, JE and Toohey, MG and Kowal, L and Chen, C and Wirth, MG and Mackey, DA, Hereditary Hyperferritinemia -Cataract Syndrome: Prevalence, lens morphology and spectrum of mutations and clinical presentations, Archives of Opthalmology, 121, (12) pp. 1753-1761. ISSN 0003-9950 (2003) [Refereed Article]
Burdon, KP and Wilkinson, RM and Barbour, JM and Dickinson, JL and Stankovich, J and Mackey, DA and Sale, MM, Investigation of albinism genes in congenital esotropia, Molecular Vision, 9, (83-85 ) pp. 710-714. ISSN 1090-0535 (2003) [Refereed Article]
Mackey, DA and Fingert, JH and Luzhansky, JZ and McCluskey, PJ and Howell, N and Hall, AJ and Pierce, AB and Hoy, JF, Leber's Hereditary Optic Neuropathy (LHON) Triggered by Antiretroviral Therapy for Human Immunodeficiency Virus (HIV), Eye, 17, (3) pp. 312-317. ISSN 0950-222X (2003) [Refereed Article]
Howell, N and Herrnstadt, C and Mackey, DA, Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background, American Journal of Medical Genetics. Part A , 119A, (2) pp. 147-51. ISSN 0148-7299 (2003) [Refereed Article]
Burdon, KP and McKay, JD and Sale, MM and Russell-Eggitt, IM and Mackey, DA and Wirth, MG and Elder, JE and Nicoll, A and Clarke, MP and Fitzgerald, LM and Stankovich, J and Shaw, MA and Sarma, S and Gajovic, S and Gruss, P and Ross, S and Thomas, P and Voss, AK and Thomas, T and Gecz, J and Craig, JE, Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation, American Journal of Human Genetics, 73, (5) pp. 1120-1130. ISSN 0002-9297 (2003) [Refereed Article]
Ng, WT and Toohey, MG and Mulhall, L and Mackey, DA, Pigmentary retinopathy, macular oedema and abnormal ERG with mitotane treatment, British journal of ophthalmology, 87, (4) pp. 500-501. ISSN 0007-1161 (2003) [Refereed Article]
Mackey, DA and Craig, JE, Predictive DNA testing for glaucoma: Reality in 2003, Ophthalmology clinics of North America, 16, (4) pp. 639-645. ISSN 0896-1549 (2003) [Refereed Article]
Mackey, DA and Heon, E and Webster, AR, Predictive DNA Testing in Ophthalmology, British Journal of Ophthalmology, 87, (5) pp. 633-638. ISSN 0007-1161 (2003) [Refereed Article]
Howell, N and Oostra, R and Bolhuis, PA and Spruijt, L and Clarke, LA and Mackey, DA and Preston, G and Herrnstadt, C, Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy, American Journal of Human Genetics , 72, (6) pp. 1460-1469. ISSN 0002-9297 (2003) [Refereed Article]
Howell, N and Smejkal, CB and Mackey, DA and Chinnery, PF and Turnbull, DM and Herrnstadt, C, The Pedigree Rate of Sequence Divergence in the Human Mitochondrial Genome. There Is a Difference between Phylogenetic and Pedigree Rates, American Journal of Human Genetics, 72, (3) pp. 659-70. ISSN 0002-9297 (2003) [Refereed Article]
Wilkinson, C and van der Straaten, D and Craig, JE and Coote, M and McCartney, PJ and Stankovich, J and Stone, E and Mackey, DA, Tonography demonstrates reduced facility of outflow of aqueous humour in myocilin mutation carriers, Journal of Glaucoma, 12, (3) pp. 237-242. ISSN 1057-0829 (2003) [Refereed Article]
Wirth, MG and Russell-Eggitt, IM and Craig, JE and Elder, JE and Mackey, DA, Aetiology of congenital and paediatric cataract in an Australian population, British journal of ophthalmology, 86, (7) pp. 782-786. ISSN 0007-1161 (2002) [Refereed Article]
Sale, MM and Craig, JE and Charlesworth, JC and Fitzgerald, LM and Hanson, I and Dickinson, JL and Matthews, S and van Heyningen, V and Fingert, J and Mackey, DA, Broad Phenotypic variability in a Single Pedigree With a Novel 1410delC Mutation in the PST Domain of the PAX6 Gene, Human Mutation, 20, (4) pp. 322. ISSN 1098-1004 (2002) [Refereed Article]
Mackey, DA and Chan, W and Chan, C and Gillies, WE and Brooks, AMV and O'Day, J and Engle, EC, Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus, Human Genetics, 110, (5) pp. 510-512. ISSN 0340-6717 (2002) [Refereed Article]
Marchbank, NJ and Craig, JE and Leek, JP and Toohey, M and Churchill, AJ and Markham, AF and Mackey, DA and Toomes, C and Inglehearn, CF, Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease, Journal of Medical Genetics, 39, (8) pp. e47. ISSN 1468-6244 (2002) [Refereed Article]
Fullerton, J and Paprocki, P and Foote, SJ and Mackey, DA and Williamson, R and Forrest, S, Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia, Human Genetics, 110, (5) pp. 462-470. ISSN 0340-6717 (2002) [Refereed Article]
Howell, N and Miller, AR and Mackey, DA and Arnold, A and Herrnstadt, C and Williams, IM and Kubacka, I, Lightning Strikes Twice: Leber Hereditary Optic Neuropathy Families with Two Pathogenic mtDNA Mutations, Journal of Neuro-Ophthalmology, 22, (4) pp. 262-269. ISSN 1070-8022 (2002) [Refereed Article]
Keen, TJ and Hims, MM and McKie, AB and Moore, AT and Doran, RM and Mackey, DA and Mansfield, DC and Mueller, RF and Bhattacharya, SS and Bird, AC and Markham, AF and Inglehearn, CF, Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa, European journal of human genetics, 10, (4) pp. 245-9. ISSN 1018-4813 (2002) [Refereed Article]
Wheatley, C and Dickinson, JL and Mackey, DA and Craig, JE and Sale, MM, Retinopathy of prematurity: recent advances in our understanding, British Journal of Ophthalmology, 86, (6) pp. 696-701. ISSN 0007-1161 (2002) [Refereed Article]
Wheatley, C and Dickinson, JL and Mackey, DA and Craig, JE and Sale, MM, Retinopathy of prematurity: recent advances in our understanding, Archives of Disease in Childhood, 87, (2) pp. F78-F82. ISSN 0003-9888 (2002) [Refereed Article]
Vickers, JC and Craig, JE and Stankovich, J and McCormack, GH and West, AK and Dickinson, JL and McCartney, PJ and Coote, M and Healey, D and Mackey, DA, The apolipoprotein epsilon 4 gene is associated with elevated risk of normal tension glaucoma, Molecular Vision, 8, (40) pp. 389-393. ISSN 1090-0535 (2002) [Refereed Article]
McLean, IM and Mueller, E and Buttery, RG and Mackey, DA, Visual field assessment and the Austroad driving standard, Clinical and Experimental Ophthalmology, 30, (1) pp. 3-7. ISSN 1442-6404 (2002) [Refereed Article]
Nishimura, D and Searby, C and Alward, W and Walton, D and Craig, JE and Mackey, DA and Kawase, K and Kanis, A and Patil, S and Stone, E and Sheffield, V, A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye, Americal Journal of Human Genetics, 68, (2) pp. 364-372. ISSN 0002-9297 (2001) [Refereed Article]
Howell, N and Herrnstadt, C and Mackey, DA, Different patterns of expansion/contraction during the evolution of an mtDNA simple repeat, Molecular Biology and Evolution, 18, (8) pp. 1593-1596. ISSN 0737-4038 (2001) [Letter or Note in Journal]
Fingert, JH and Clark, AF and Craig, JE and Alward, WLM and Snibson, GR and McLaughlin, M and Tuttle, L and Mackey, DA and Sheffield, VC and Stone, EM, Evaluation of the Myocilin (MYOC) Glaucoma Gene in Monkey and Human Steroid-Induced Ocular Hypertension, Investigative Ophthalmology & Visual Science, 42, (1) pp. 145-152. ISSN 0146-0404 (2001) [Refereed Article]
Craig, JE and Baird, PN and Healey, DL and McNaught, AI and McCartney, PJ and Rait, JL and Dickinson, JL and Roe, L and Fingert, JH and Stone, EM and Mackey, DA, Evidence for Genetic Heterogeneity within Eight Glaucoma Families, with the GLC1A Gln368STOP Mutation Being an Important Phenotypic Modifier, Ophthalmology, 108, (9) pp. 1607-1620. ISSN 0161-6420 (2001) [Refereed Article]
MacKinnon, JR and Challis, DR and Mackey, DA, Is it not in my records doctor?, Clinical and Experimental Ophthalmology, 29, (6) pp. 440-441. ISSN 1442-6404 (2001) [Letter or Note in Journal]
Dickinson, JL and Sale, MM and Craig, JE and Mackey, DA, Laboratory methods in ophthalmic genetics: obtaining DNA from patients, Ophthalmic Genetics, 22, (1) pp. 49-60. ISSN 1381-6810 (2001) [Professional, Non Refereed Article]
McKie, AB and McHale, JC and Keen, TJ and Tarttelin, EE and Goliath, R and van Lith-Verhoeven, JJ and Greenberg, J and Ramesar, RS and Hoyng, CB and Cremers, FP and Mackey, DA and Bhattacharya, SS and Bird, AC and Markham, AF and Inglehearn, CF, Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13), Human Molecular Genetics, 10, (15) pp. 1555-1562. ISSN 0964-6906 (2001) [Refereed Article]
Baird, PN and Dickinson, JL and Craig, JE and Mackey, DA, The Taa1 Restriction Enzyme Provides a Simple Means to Identify the Q368STOP Mutation of the Myocilin Gene in Primary Open Angle Glaucoma, American Journal of Ophthalmology, 131, (4) pp. 510-511. ISSN 0002-9394 (2001) [Refereed Article]
Mitchell, AE and Elder, JE and Mackey, DA and Waters, KD and Ashley, DM, Visual improvement despite radiologically stable disease after treatment with carboplatin in children with progressive low-grade optic/thalamic gliomas, Journal of Pediatric Hematology / Oncology, 23, (9) pp. 572-577. ISSN 1077-4114 (2001) [Refereed Article]
McNaught, A and Allen, J and Healey, D and McCartney, P and Coote, M and Wong, T and Craig, JE and Green, C and Rait, J and Mackey, DA, Accuracy and implications of a reported family history of glaucoma - Experience from the glaucoma inheritance study in Tasmania, Archives of Ophthalmology, 118, (7) pp. 900-904. ISSN 0003-9950 (2000) [Refereed Article]
Stone, EM and Lotery, AJ and Munier, FL and Heon, E and Piguet, B and Guymer, RH and Vandenburgh, K and Cousin, P and Nishimura, D and Swiderski, RE and Silvestri, G and Mackey, DA and Hageman, GS and Bird, AC and Sheffield, VC and Schorderet, DF, A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy, Nature Genetics, 22, (2) pp. 199-202. ISSN 1061-4036 (1999) [Refereed Article]
Fingert, JH and Heon, E and Liebmann, JM and Yamamoto, T and Craig, JE and Rait, J and Kawase, K and Hoh, ST and Buys, YM and Dickinson, JL and Hockey, RR and Williams-Lyn, D and Trope, G and Kitazawa, Y and Ritch, R and Mackey, DA and Alward, WLM and Sheffield, VC and Stone, EM, Analysis of myocilin mutations in 1703 glaucoma patients from five different populations, Human Molecular Genetics, 8, (5) pp. 899-905. ISSN 0964-6906 (1999) [Refereed Article]
Simm, RM and Fingert, JH and Craig, JE and McNaught, AI and Mackey, DA, Normal range of hearing associated with myocilin THr377Met, Ophthalmic Genetics, 20, (3) pp. 205-207. ISSN 1381-6810 (1999) [Letter or Note in Journal]
Carden, SM and Colville, DJ and Davidson, AJ and McKenzie, IM and Mackey, DA and McKenzie, J and Elder, JE, Adjunctive intra-operative local anaesthesia in paediatric strabismus surgery: A randomized controlled trial, Australian and New Zealand Journal of Ophthalmology, 26, (4) pp. 289-297. ISSN 0814-9763 (1998) [Refereed Article]
Alward, WLM and Fingert, JH and Coote, MA and Johnson, T and Lerner, SF and Junqua, D and Durcan, FJ and McCartney, PJ and Mackey, DA and Stone, EM and Sheffield, VC, Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLCIA), The New England Journal of Medicine, 338, (15) pp. 1022-1027. ISSN 0028-4793 (1998) [Refereed Article]
Howell, N and Mackey, DA, Low-Penetrance Branches in Matrilineal Pedigrees with Leber Hereditary Optic Neuropathy, American Journal of Human Genetics, 63, (4) pp. 1220-1224. ISSN 1537-6605 (1998) [Letter or Note in Journal]
Howell, N and Bogolin, C and Jamieson, R and Marenda, DR and Mackey, DA, mtDNA Mutations That Cause Optic Neuropathy: How Do We Know?, American Journal of Human Genetics, 62, (1) pp. 196-202. ISSN 1537-6605 (1998) [Letter or Note in Journal]
Mackey, DA and Oostra, RJ and Rosenberg, T and Nikoskelainen, E and Poulton, J and Barratt, T and Bolhuis, P and Norby, S and Savontaus, ML and Chan, C and Howell, N, Reply to Hofmann et al, American Journal of Human Genetics, 62, (2) pp. 492-495. ISSN 1537-6605 (1998) [Letter or Note in Journal]
Howell, N and Kubacka, I and Mackey, DA, How rapidly does the human mitochondrial genome evolve?, American Journal of Human Genetics, 59, (3) pp. 501-509. ISSN 0002-9297 (1996) [Refereed Article]
Mackey, DA and Oostra, RJ and Rosenberg, T and Nikoskelainen, E and Bronte-Stewart, J and Poulton, J and Harding, AE and Govan, G and Bolhuis, PA and Norby, S and Bleeker-Wagemakers, EM and Savontaus, ML and Chan, C and Howell, N, Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy, American Journal of Human Genetics, 59, (2) pp. 481-485. ISSN 0002-9297 (1996) [Refereed Article]
Chan, C and Mackey, DA and Byrne, E, Sporadic leber hereditary optic neuropathy in Australia and new Zealand, Australian and New Zealand Journal of Ophthalmology, 24, (1) pp. 7-14. ISSN 0814-9763 (1996) [Refereed Article]

This list was generated on Sat Mar 25 02:48:01 2023.