Mutations in the Gene KCNV2 Encoding a Voltage-Gated Potassium Channel Subunit Cause “Cone Dystrophy with Supernormal Rod Electroretinogram” in Humans

by Wu, Huimin, Cowing, Jill A., Michaelides, Michel, Wilkie, Susan E., Jeffery, Glen, Jenkins, Sharon A., Mester, Viktoria, Bird, Alan C., Robson, Anthony G., Holder, Graham E., Moore, Anthony T., Hunt, David M., Webster, Andrew R.
Published 2006

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB–FKBPL–NOTCH4 region of chromosome 6p21.3

by Cipriani, Valentina, Leung, Hin-Tak, Plagnol, Vincent, Bunce, Catey, Khan, Jane C., Shahid, Humma, Moore, Anthony T., Harding, Simon P., Bishop, Paul N., Hayward, Caroline, Campbell, Susan, Armbrecht, Ana Maria, Dhillon, Baljean, Deary, Ian J., Campbell, Harry, Dunlop, Malcolm, Dominiczak, Anna F., Mann, Samantha S., Jenkins, Sharon A., Webster, Andrew R., Bird, Alan C., Lathrop, Mark, Zelenika, Diana, Souied, Eric H., Sahel, José-Alain, Léveillard, Thierry, Cree, Angela J., Gibson, Jane, Ennis, Sarah, Lotery, Andrew J., Wright, Alan F., Clayton, David G., Yates, John R.W.
Published 2012

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype

by Sofat, Reecha, Casas, Juan P, Webster, Andrew R, Bird, Alan C, Mann, Samantha S, Yates, John RW, Moore, Anthony T, Sepp, Tiina, Cipriani, Valentina, Bunce, Catey, Khan, Jane C, Shahid, Humma, Swaroop, Anand, Abecasis, Gonçalo, Branham, Kari E H, Zareparsi, Sepideh, Bergen, Arthur A, Klaver, Caroline CW, Baas, Dominique C, Zhang, Kang, Chen, Yuhong, Gibbs, Daniel, Weber, Bernhard H F, Keilhauer, Claudia N, Fritsche, Lars G, Lotery, Andrew, Cree, Angela J, Griffiths, Helen L, Bhattacharya, Shomi S, Chen, Li L, Jenkins, Sharon A, Peto, Tunde, Lathrop, Mark, Leveillard, Thierry, Gorin, Michael B, Weeks, Daniel E, Ortube, Maria Carolina, Ferrell, Robert E, Jakobsdottir, Johanna, Conley, Yvette P, Rahu, Mati, Seland, Johan H, Soubrane, Gisele, Topouzis, Fotis, Vioque, Jesus, Tomazzoli, Laura, Young, Ian, Whittaker, John, Chakravarthy, Usha, de Jong, Paulus T V M, Smeeth, Liam, Fletcher, Astrid, Hingorani, Aroon D
Published 2012