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  • A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

    Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., Kim, I. K., Cho, D., Zack, D., Souied, E., Scholl, H. P. N., Bala, E., Lee, K. E., Hunter, D. J., Sardell, R. J., Mitchell, P. & 142 others, Merriam, J. E., Cipriani, V., Hoffman, J. D., Schick, T., Lechanteur, Y. T. E., Guymer, R. H., Johnson, M. P., Jiang, Y., Stanton, C. M., Buitendijk, G. H. S., Zhan, X., Kwong, A. M., Boleda, A., Brooks, M., Gieser, L., Ratnapriya, R., Branham, K. E., Foerster, J. R., Heckenlively, J. R., Othman, M. I., Vote, B. J., Liang, H. H., Souzeau, E., McAllister, I. L., Isaacs, T., Hall, J., Lake, S., Mackey, D. A., Constable, I. J., Craig, J. E., Kitchner, T. E., Yang, Z., Su, Z., Luo, H., Chen, D., Ouyang, H., Flagg, K., Lin, D., Mao, G., Ferreyra, H., Stark, K., von Strachwitz, C. N., Wolf, A., Brandl, C., Rudolph, G., Olden, M., Morrison, M. A., Morgan, D. J., Schu, M., Ahn, J., Silvestri, G., Tsironi, E. E., Park, K. H., Farrer, L. A., Orlin, A., Brucker, A., Li, M., A Curcio, C., Mohand-Saïd, S., Sahel, J-A., Audo, I., Benchaboune, M., Cree, A. J., Rennie, C. A., Goverdhan, S. V., Grunin, M., Hagbi-Levi, S., Campochiaro, P., Katsanis, N., Holz, F. G., Blond, F., Blanché, H., Deleuze, J-F., Igo Jr, R. P., Truitt, B., Peachey, N. S., Meuer, S. M., Myers, C. E., Moore, E. L., Klein, R., Hauser, M. A., Postel, E. A., Courtenay, M. D., Schwartz, S. G., Kovach, J. L., Scott, W. K., Liew, G., Tan, A. G., Gopinath, B., Merriam, J. C., Smith, R. T., Khan, J. C., Shahid, H., Moore, A. T., McGrath, J. A., Laux, R., Brantley, M. A., Agarwal, A., Ersoy, L., Caramoy, A., Langmann, T., Saksens, N. T. M., de Jong, E. K., Hoyng, C. B., Cain, M. S., Richardson, A. J., Martin, T. M., Blangero, J., Weeks, D. E., Dhillon, B., van Duijn, C. M., Doheny, K. F., Romm, J., Klaver, C. C. W., Hayward, C., Gorin, M. B., Klein, M. L., Baird, P. N., den Hollander, A. I., Fauser, S., Yates, J. R. W., Allikmets, R., Wang, J. J., Schaumberg, D. A., Klein, B. E. K., Hagstrom, S. A., Chowers, I., Lotery, A. J., Léveillard, T., Zhang, K., Brilliant, M. H., Hewitt, A. W., Swaroop, A., Chew, E. Y., Pericak-Vance, M. A., DeAngelis, M., Stambolian, D., Haines, J. L., Iyengar, S. K., Weber, B. H. F., Abecasis, G. R. & Heid, I. M., Feb 2016, In: Nature Genetics. 48, 2, p. 134-143 10 p.

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  • A Mouse Model of Brittle Cornea Syndrome caused by mutation in Zfp469

    Stanton, C., Findlay, A., Drake, C., Mustafa, Z., Gautier, P., McKie, L., Jackson, I. J. & Vitart, V., 9 Aug 2021, (E-pub ahead of print) In: Disease Models and Mechanisms.

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  • Glycosylation of immunoglobulin G is regulated by a large network of genes pleiotropic with inflammatory diseases

    Klaric, L., Tsepilov, Y. A., Stanton, C. M., Mangino, M., Sikka, T. T., Esko, T., Pakhomov, E., Salo, P., Deelen, J., McGurnaghan, S. J., Keser, T., Vučković, F., Ugrina, I., Krištić, J., Gudelj, I., Štambuk, J., Plomp, R., Pučić-Baković, M., Pavić, T., Vilaj, M. & 34 others, Trbojević Akmačić, I., Drake, C., Dobrinić, P., Timofeeva, M., Mlinarec, J., Jelušić, B., Richmond, A., Timofeeva, M., Grishchenko, A. K., Dmitrieva, J., Bermingham, M. L., Sharapov, S. Z., Farrington, S., Theodoratou, E., Uh, H-W., Beekman, M., Slagboom, E. P., Louis, E., Georges, M., Wuhrer, M., Colhoun, H. M., Dunlop, M. G., Perola, M., Fischer, K., Polasek, O., Campbell, H., Rudan, I., Wilson, J. F., Zoldos, V., Vitart, V., Spector, T., Aulchenko, Y. S., Lauc, G. & Hayward, C., 19 Feb 2020, In: Science Advances. 6, 8, eaax0301.

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  • Late-onset retinal degeneration pathology de to mutations in CTRP5 is mediated through HTRA1

    Chekuri, A., Zientara-Rytter, K., Soto-Hermida, A., Borooah, S., Voronchikhina, M., Biswas, P., Kumar, V., Goodsell, D., Hayward, C., Shaw, P., Stanton, C., Garland, D., Subramani, S. & Ayyagari, R., Dec 2019, In: Aging Cell. 18, 6, e13011.

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  • Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration

    Stanton, C. M., Borooah, S., Drake, C., Marsh, J. A., Campbell, S., Lennon, A., Soares, D. C., Vallabh, N. A., Sahni, J., Cideciyan, A. V., Dhillon, B., Vitart, V., Jacobson, S. G., Wright, A. F. & Hayward, C., 22 Sep 2017, In: Scientific Reports. 7, 1, p. 12147

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  • Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration

    Borooah, S., Stanton, C. M., Marsh, J., Carss, K. J., Waseem, N., Biswas, P., Agorogiannis, G., Raymond, L., Arno, G. & Webster, A. R., Dec 2018, In: Ophthalmic genetics. 39, 6, p. 763-770 8 p.

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