Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1

by Pasutto, F, Zenkel, M, Hoja, U, Berner, D, Uebe, S, Ferrazzi, F, Schödel, J, Liravi, P, Ozaki, M, Paoli, D, Frezzotti, P, Mizoguchi, T, Nakano, S, Kubota, T, Manabe, S, Salvi, E, Manunta, P, Cusi, D, Gieger, C, Wichmann, H.-E, Aung, T, Khor, C.C, Kruse, F.E, Reis, A, Schlötzer-Schrehardt, U
Published 2020

Common genetic determinants of intraocular pressure and primary open-angle Glaucoma

by van Koolwijk, L.M.E., Ramdas, W.D., Ikram, M.K., Jansonius, N.M., Pasutto, F., Hysi, P.G., Macgregor, S., Janssen, S.F., Hewitt, A.W., Viswanathan, A.C., ten Brink, J.B., Hosseini, S.M., Amin, N., Despriet, D.D.G., Willemse-Assink, J.J.M., Kramer, R., Rivadeneira, F., Struchalin, M., Aulchenko, Y.S., Weisschuh, N., Zenkel, M., Mardin, C.Y., Gramer, E., Welge-Lüssen, U., Montgomery, G.W., Carbonaro, F., Young, T.L., Bellenguez, C., McGuffin, P., Foster, P.J., Topouzis, F., Mitchell, P., Wang, J.J., Wong, T.Y., Czudowska, M.A., Hofman, A., Uitterlinden, A.G., Wolfs, R.C.W., de Jong, P.T.V.M., Oostra, B.A., Paterson, A.D., Mackey, D.A., Bergen, A.A.B., Reis, A., Hammond, C.J., Vingerling, J.R., Lemij, H.G., Klaver, C.C.W., van Duijn, C.M.
Published 2014

Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility

by Chintalapudi, S.R, Maria, D, Di Wang, X, Bailey, J.N.C, Allingham, R, Brilliant, M, Budenz, D, Fingert, J, Gaasterland, D, Gaasterland, T, Haines, J.L, Hark, L, Hauser, M, Igo, R, Hee Kang, J, Kraft, P, Lee, R, Lichter, P, Liu, Y, Moroi, S, Pasquale, L.R, Pericak-Vance, M, Realini, A, Rhee, D, Richards, J.R, Ritch, R, Schuman, J, Scott, W.K, Singh, K, Sit, A, Vollrath, D, Wollstein, G, Zack, D, Aung, T, Bonnemaijer, P, Cheng, C.-Y, Craig, J, Van Duijn, C, Gharahkhani, P, Iglesias Gonzalez, A, Hammond, C.J, Hewitt, A, Hoehn, R, Jonansson, F, Khawaja, A, Chuen Khor, C, Klaver, C.C.W, Lotery, A, MacKey, D, MacGregor, S, Pang, C, Pasutto, F, Stefansson, K, Thorleifsson, G, Thorsteinsdottir, U, Vitart, V, Vithana, E, Young, T, Zeller, T, Hysi, P.G, Wiggs, J.L, Williams, R.W, Jablonski, M.M
Published 2020

Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma

by King R., Struebing F.L., Li Y., Wang J., Koch A.A., Cooke Bailey J.N., Gharahkhani P., MacGregor S., Allingham R.R., Hauser M.A., Wiggs J.L., Geisert E.E., Brilliant M., Budenz D., Bailey J.C., Fingert J., Gaasterland D., Gaasterland T., Haines J.L., Hark L., Igo R., Kang J.H., Kraft P., Lee R., Lichter P., Liu Y., Moroi S., Pasquale L.R., Pericak-Vance M., Realini A., Rhee D., Richards J.R., Ritch R., Schuman J., Scott W.K., Singh K., Sit A., Vollrath D., Weinreb R.N., Wollstein G., Zack D., Aung T., Burdon K.P., Cheng C.-Y., Bailey J.N.C., Craig J.E., Cree A.J., Hammond C.J., Hewitt A.W., H?hn R., Hysi P., Gonzalez A.I.I., Jonas J., Khawaja A., Khor C.-C., Klaver C.C.W., Pasutto F., Mackey D., Mitchell P., Mishra A., Pang C., Springelkamp H., Thorleifsson G., Thorsteinsdottir U., van Duijn C.M., Viswanathan A., Vitart V., Wojciechowski R., Wong T., Young T.L., Zeller T.
Published 2020

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters

by Bonnemaijer, P.W.M., Leeuwen, E.M., Iglesias, A.I., Gharahkhani, P., Vitart, V., Khawaja, A.P., Simcoe, M., Höhn, R., Cree, A.J., Igo, R.P., Burdon, K.P., Craig, J.E., Hewitt, A.W., Jonas, J., Khor, C.-C., Pasutto, F., Mackey, D.A., Mitchell, P., Mishra, A., Pang, C., Pasquale, L.R., Springelkamp, H., Thorleifsson, G., Thorsteinsdottir, U., Viswanathan, A.C., Wojciechowski, R., Wong, T., Young, T.L., Zeller, T., Allingham, R., Budenz, D., Bailey, J.C., Fingert, J., Gaasterland, D., Gaasterland, T., Haines, J.L., Hark, L., Hauser, M., Kang, J.H., Kraft, P., Lee, R., Lichter, P., Liu, Y., Moroi, S., Pericak, M., Realini, A., Rhee, D., Richards, J.R., Ritch, R., Scott, W.K., Singh, K., Sit, A., Vollrath, D., Weinreb, R., Wollstein, G., Wilmer, D.Z., Atan, D., Aslam, T., Barman, S.A., Barrett, J.H., Bishop, P., Blows, P., Bunce, C., Carare, R.O., Chakravarthy, U., Chan, M., Chua, S.Y.L., Crabb, D.P., Cumberland, P.M., Day, A., Desai, P., Dhillon, B., Dick, A.D., Egan, C., Ennis, S., Foster, P., Fruttiger, M., Gallacher, J.E.J., Garway, D.F., Gibson, J., Gore, D., Guggenheim, J.A., Hardcastle, A., Harding, S.P., Hogg, R.E., Keane, P.A., Khaw, P.T., Lascaratos, G., Macgillivray, T., Mackie, S., Martin, K., McGaughey, M., McGuinness, B., McKay, G.J., McKibbin, M., Mitry, D., Moore, T., Morgan, J.E., Muthy, Z.A., O’Sullivan, E., Owen, C.G., Patel, P., Paterson, E., Peto, T., Petzold, A., Rahi, J.S., Rudnikca, A.R., Self, J., Sivaprasad, S., Steel, D., Stratton, I., Strouthidis, N., Sudlow, C., Thomas, D., Trucco, E., Tufail, A., Vernon, S.A., Williams, C., Williams, K., Woodside, J.V., Yates, M.M., Yip, J., Zheng, Y., Gerhold-Ay, A., Nickels, S., Wilson, J.F., Hayward, C., Boutin, T.S., Polašek, O., Aung, T., Amin, N., Lotery, A.J., Wiggs, J.L., Cheng, C.-Y., Hysi, P.G., Hammond, C.J., Thiadens, A.A.H.J., MacGregor, S., Klaver, C.C.W., Duijn, C.M., International Glaucoma Genetics Consortium., NEIGHBORHOOD consortium., UK Biobank Eye and Vision Consortium.
Published 2021