Translation of Genetic Eye Research Integrating Education, Counselling & Testing with Gene Discovery & Gene Based Therapies for Eye Disease

  • Mackey, David (Chief Investigator)
  • Hewitt, Alex (Investigator 02)
  • Burdon, Kathryn (Investigator 03)
  • Craig, Jamie (Investigator 04)
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  • A COL17A1 splice-altering mutation is prevalent in inherited recurrent corneal erosions

    Oliver, V. F., Van Bysterveldt, K. A., Cadzow, M., Steger, B., Romano, V., Markie, D., Hewitt, A., Mackey, D., Willoughby, C. E., Sherwin, T., Crosier, P. S., Mcghee, C. N. & Vincent, A. L., Apr 2016, In: Ophthalmology. 123, 4, p. 709-722 14 p.

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    21 Citations (Scopus)

  • Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration

    Cuellar-Partida, G., Craig, J. E., Burdon, K. P., Wang, J. J., Vote, B. J., Souzeau, E., Mcallister, I. L., Isaacs, T., Lake, S., Mackey, D. A., Constable, I. J., Mitchell, P., Hewitt, A. W. & Macgregor, S., 31 May 2016, In: Scientific Reports. 6, p. 1-6 26885.

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    15 Citations (Web of Science)

  • Association of Genetic Variation with Keratoconus

    McComish, B. J., Sahebjada, S., Bykhovskaya, Y., Willoughby, C. E., Richardson, A. J., Tenen, A., Charlesworth, J. C., Macgregor, S., Mitchell, P., Lucas, S. E. M., Mills, R. A., Mackey, D. A., Li, X., Wang, J. J., Jensen, R. A., Rotter, J. I., Taylor, K. D., Hewitt, A. W., Rabinowitz, Y. S., Baird, P. N. & 2 others, Craig, J. E. & Burdon, K. P., Feb 2020, In: JAMA Ophthalmology. 138, 2, p. 174-181 8 p.

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    19 Citations (Web of Science)

  • Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma

    Siggs, O. M., Souzeau, E., Taranath, D. A., Dubowsky, A., Chappell, A., Zhou, T., Javadiyan, S., Nicholl, J., Kearns, L. S., Staffieri, S. E., Narita, A., Smith, J. E. H., Pater, J., Hewitt, A. W., Ruddle, J. B., Elder, J. E., Mackey, D. A., Burdon, K. P. & Craig, J. E., Jun 2020, In: Ophthalmology. 127, 6, p. 758-766 9 p.

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    18 Citations (Scopus)

  • Contribution of mutations in known mendelian glaucoma genes to advanced early-onset primary open-angle glaucoma

    Zhou, T., Souzeau, E., Siggs, O. M., Landers, J., Mills, R., Goldberg, I., Healey, P. R., Graham, S., Hewitt, A. W., Mackey, D., Galanopoulos, A., Casson, R. J., Ruddle, J. B., Ellis, J., Leo, P., Brown, M. A., Macgregor, S., Sharma, S., Burdon, K. P. & Craig, J. E., 1 Mar 2017, In: Investigative Ophthalmology and Visual Science. 58, 3, p. 1537-1544 8 p.

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    11 Citations (Scopus)
    176 Downloads (Pure)

  • Crowd-sourced Ontology for Photoleukocoria: Identifying Common Internet Search Terms for a Potentially Important Pediatric Ophthalmic Sign

    Staffieri, S. E., Kearns, L. S., Sanfilippo, P. G., Craig, J. E., Mackey, D. A. & Hewitt, A. W., Jan 2018, In: Translational Vision Science and Technology. 7, 1, 9 p., 18.

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    1 Citation (Scopus)

  • Establishing risk of vision loss in Leber hereditary optic neuropathy

    Lopez Sanchez, M. I. G., Kearns, L. S., Staffieri, S. E., Clarke, L., McGuinness, M. B., Meteoukki, W., Samuel, S., Ruddle, J. B., Chen, C., Fraser, C. L., Harrison, J., Hewitt, A. W., Howell, N. & Mackey, D. A., 4 Nov 2021, In: American Journal of Human Genetics. 108, 11, p. 2159-2170 12 p.

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    4 Citations (Web of Science)

  • Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

    Bailey, J. N. C., Loomis, S. J., Kang, J. H., Allingham, R. R., Gharahkhani, P., Khor, C. C., Burdon, K. P., Aschard, H., Chasman, D. I., Igo, R. P., Hysi, P. G., Glastonbury, C. A., Ashley-Koch, A., Brilliant, M., Brown, A. A., Budenz, D. L., Buil, A., Cheng, C. Y., Choi, H., Christen, W. G. & 58 others, Curhan, G., De Vivo, I., Fingert, J. H., Foster, P. J., Fuchs, C., Gaasterland, D., Gaasterland, T., Hewitt, A. W., Hu, F., Hunter, D. J., Khawaja, A. P., Lee, R. K., Li, Z., Lichter, P. R., Mackey, D., Mcguffin, P., Mitchell, P., Moroi, S. E., Perera, S. A., Pepper, K. W., Qi, Q., Realini, T., Richards, J. E., Ridker, P. M., Rimm, E., Ritch, R., Ritchie, M., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Song, Y. E., Tamimi, R. M., Topouzis, F., Viswanathan, A. C., Verma, S. S., Vollrath, D., Wang, J. J., Weisschuh, N., Wissinger, B., Wollstein, G., Wong, T. Y., Yaspan, B. L., Zack, D. J., Zhang, K., Weinreb, R. N., Pericak-Vance, M. A., Small, K., Hammond, C. J., Aung, T., Liu, Y., Vithana, E. N., Macgregor, S., Craig, J. E., Kraft, P., Howell, G., Hauser, M. A. & Pasquale, L. R., Feb 2016, In: Nature Genetics. 48, 2, p. 189-194 7 p.

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    150 Citations (Scopus)
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  • Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

    MacGregor, S., Ong, J-S., An, J., Han, X., Zhou, T., Siggs, O. M., Law, M. H., Souzeau, E., Sharma, S., Lynn, D. J., Beesley, J., Sheldrick, B., Mills, R. A., Landers, J., Ruddle, J. B., Graham, S. L., Healey, P. R., White, A. J. R., Casson, R. J., Best, S. & 12 others, Grigg, J. R., Goldberg, I., Powell, J. E., Whiteman, D. C., Radford-Smith, G. L., Martin, N. G., Montgomery, G. W., Burdon, K. P., Mackey, D. A., Gharahkhani, P., Craig, J. E. & Hewitt, A. W., Aug 2018, In: Nature Genetics. 50, 8, p. 1067-+ 9 p.

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    79 Citations (Scopus)

  • Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

    NEIGHBORHOOD Consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team & Mackey, D. A., 1 Dec 2021, In: Nature Communications. 12, 1, 1258.

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    34 Citations (Web of Science)

  • Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

    NEIGHBORHOOD Consortium & UK Biobank Eye and Vision Consortium, 1 Feb 2020, In: Nature Genetics. 52, 2, p. 160-166 7 p.

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    64 Citations (Web of Science)

  • Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies

    Han, X., Souzeau, E., Ong, J-S., An, J., Siggs, O. M., Bunion, K. P., Best, S., Goldberg, I., Healey, P. R., Graham, S. L., Ruddle, J. B., Mills, R. A., Landers, J., Galanopoulos, A., White, A. J. R., Casson, R., Mackey, D. A., Hewitt, A. W., Gharahkhani, P., Craig, J. E. & 1 others, MacGregor, S., Jan 2019, In: JAMA Ophthalmology. 137, 1, p. 28-35 8 p.

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    20 Citations (Scopus)

  • Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma leads to early identification of at-risk individuals

    Souzeau, E., Tram, K. H., Witney, M., Ruddle, J. B., Graham, S. L., Healey, P. R., Goldberg, I., Mackey, D., Hewitt, A. W., Burdon, K. P. & Craig, J. E., 1 Mar 2017, In: Ophthalmology. 124, 3, p. 303-309 7 p.

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  • Participant understanding and recall of informed consent for induced pluripotent stem cell biobanking

    Mccaughey, T., Chen, C. Y., De Smit, E., Rees, G., Fenwick, E., Kearns, L. S., Mackey, D., Macgregor, C., Munsie, M., Cook, A. L., Pébay, A. & Hewitt, A., Sep 2016, In: Cell and Tissue Banking. 17, 3, p. 449-456

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    14 Citations (Scopus)
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  • Prevalence of FOXC1 Variants in Individuals with a Suspected Diagnosis of Primary Congenital Glaucoma

    Siggs, O. M., Souzeau, E., Pasutto, F., Dubowsky, A., Smith, J. E. H., Taranath, D., Pater, J., Rait, J. L., Narita, A., Mauri, L., Del Longo, A., Reis, A., Chappell, A., Kearns, L. S., Staffieri, S. E., Elder, J. E., Ruddle, J. B., Hewitt, A. W., Burdon, K. P., Mackey, D. A. & 1 others, Craig, J. E., 1 Apr 2019, In: JAMA Ophthalmology. 137, 4, p. 348-355 8 p.

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    19 Citations (Web of Science)

  • Rare and low-frequency coding variants alter human adult height

    Marouli, E., Graff, M., Medina-Gomez, C., Lo, K. S., Wood, A. R., Kjaer, T. R., Fine, R. S., Lu, Y., Schurmann, C., Highland, H. M., Rüeger, S., Thorleifsson, G., Justice, A. E., Lamparter, D., Stirrups, K. E., Turcot, V., Young, K. L., Winkler, T. W., Esko, T., Karaderi, T. & 239 others, Locke, A. E., Masca, N. G. D., Ng, M. C. Y., Mudgal, P., Rivas, M. A., Vedantam, S., Mahajan, A., Guo, X., Abecasis, G., Aben, K. K., Adair, L. S., Alam, D. S., Albrecht, E., Allin, K. H., Allison, M., Amouyel, P., Appel, E. V. R., Arveiler, D., Asselbergs, F. W., Auer, P. L., Balkau, B., Banas, B., Bang, L. E., Benn, M., Bergmann, S., Bielak, L. F., Blüher, M., Boeing, H., Boerwinkle, E., Böger, C. A., Bonnycastle, L. L., Bork-Jensen, J., Bots, M. L., Bottinger, E. P., Bowden, D. W., Brandslund, I., Breen, G., Brilliant, M. H., Broer, L., Burt, A. A., Butterworth, A. S., Carey, D. J., Caulfield, M. J., Chambers, J. C., Chasman, D. I., Chen, Y. D. I., Chowdhury, R., Christensen, C., Chu, A. Y., Cocca, M., Collins, F. S., Cook, J. P., Corley, J., Galbany, J. C., Cox, A. J., Cuellar-Partida, G., Danesh, J., Davies, G., De Bakker, P. I. W., De Borst, G. J., De Denus, S., De Groot, M. C. H., De Mutsert, R., Deary, I. J., Dedoussis, G. V., Demerath, E. W., Den Hollander, A. I., Dennis, J. G., Di Angelantonio, E., Drenos, F., Du, M., Dunning, A. M., Easton, D. F., Ebeling, T., Edwards, T. L., Ellinor, P. T., Elliott, P., Evangelou, E., Farmaki, A. E., Faul, J. D., Feitosa, M. F., Feng, S., Ferrannini, E., Ferrario, M. M., Ferrieres, J., Florez, J. C., Ford, I., Fornage, M., Franks, P. W., Frikke-Schmidt, R., Galesloot, T. E., Gan, W., Gandin, I., Gasparini, P., Giedraitis, V., Giri, A., Girotto, G., Gordon, S. D., Gordon-Larsen, P., Gorski, M., Grarup, N., Grove, M. L., Gudnason, V., Gustafsson, S., Hansen, T., Harris, K. M., Harris, T. B., Hattersley, A. T., Hayward, C., He, L., Heid, I. M., Heikkilä, K., Helgeland, Ø., Hernesniemi, J., Hewitt, A. W., Hocking, L. J., Hollensted, M., Holmen, O. L., Hovingh, G. K., Howson, J. M. M., Hoyng, C. B., Huang, P. L., Hveem, K., Ikram, M. A., Ingelsson, E., Jackson, A. U., Jansson, J. H., Jarvik, G. P., Jensen, G. B., Jhun, M. A., Jia, Y., Jiang, X., Johansson, S., Jørgensen, M. E., Jørgensen, T., Jousilahti, P., Jukema, J. W., Kahali, B., Kahn, R. S., Kähönen, M., Kamstrup, P. R., Kanoni, S., Kaprio, J., Karaleftheri, M., Kardia, S. L. R., Karpe, F., Kee, F., Keeman, R., Kiemeney, L. A., Kitajima, H., Kluivers, K. B., Kocher, T., Komulainen, P., Kontto, J., Kooner, J. S., Kooperberg, C., Kovacs, P., Kriebel, J., Kuivaniemi, H., Küry, S., Kuusisto, J., La Bianca, M., Laakso, M., Lakka, T. A., Lange, E. M., Lange, L. A., Langefeld, C. D., Langenberg, C., Larson, E. B., Lee, I. T., Lehtimäki, T., Lewis, C. E., Li, H., Li, J., Li-Gao, R., Lin, H., Lin, L. A., Lin, X., Lind, L., Lindström, J., Linneberg, A., Liu, Y., Liu, Y., Lophatananon, A., Luan, JA., Lubitz, S. A., Lyytikäinen, L. P., Mackey, D., Madden, P. A. F., Manning, A. K., Männistö, S., Marenne, G., Marten, J., Martin, N. G., Mazul, A. L., Meidtner, K., Metspalu, A., Mitchell, P., Mohlke, K. L., Mook-Kanamori, D. O., Morgan, A., Morris, A. D., Morris, A. P., Müller-Nurasyid, M., Munroe, P. B., Nalls, M. A., Nauck, M., Nelson, C. P., Neville, M., Nielsen, S. F., Nikus, K., Njølstad, P. R., Nordestgaard, B. G., Ntalla, I., O'Connel, J. R., Oksa, H., Loohuis, L. M. O., Ophoff, R. A., Owen, K. R., Packard, C. J., Padmanabhan, S., Palmer, C. N. A., Pasterkamp, G., Patel, A. P., Pattie, A., Pedersen, O., Peissig, P. L., Peloso, G. M., Pennell, C. E., Wang, C. A., MAGIC Investigators, The EPIC-InterAct Consortium, EPIC-CVD Consortium, CHD Exome+ Consortium, ExomeBP Consortium, T2D-Genes Consortium, GoT2D Genes Consortium, Global Lipids Genetics Consortium & ReproGen Consortium, 9 Feb 2017, In: Nature. 542, 7640, p. 186-190 5 p.

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  • Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma

    Zhou, T., Souzeau, E., Sharma, S., Landers, J., Mills, R., Goldberg, I., Healey, P. R., Graham, S., Hewitt, A. W., Mackey, D. A., Galanopoulos, A., Casson, R. J., Ruddle, J. B., Ellis, J., Leo, P., Brown, M. A., MacGregor, S., Lynn, D. J., Burdon, K. P. & Craig, J. E., 1 Mar 2017, In: PLoS One. 12, 3, e0172427.

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