Authors: Ragge, Nicola K. Brown, Alison G. Poloschek, Charlotte M. Lorenz, Birgit Henderson, Alex R. Clarke, Michael P. Russell-Eggitt, Isabelle Fielder, Alistair Gerrelli, Dianne Martinez-Barbera, Juan Pedro Ruddle, Piers Hurst, Jane Collin, J. Richard O. Salt, Alison Cooper, Simon T. Thompson, Pamela J. Sisodiya, Sanjay M. Williamson, Kathleen A. FitzPatrick, David R. van Heyningen, Veronica Hanson, Isabel M.

Citation: K. Ragge, Nicola et al., Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations, American journal of human genetics , 76(6), 2005, pp. 1008-1022

Authors: Burdon, Kathryn P. McKay, James D. Sale, Michèle M. Russell-Eggitt, Isabelle M. Wirth, M. Gabriela Elder, James E. Nicoll, Alan Clarke, Michael P. FitzGerald, Liesel M. Stankovich, James M. Shaw, Marie A. Sharma, Shiwani Gajovic, Srecko Gruss, Peter Ross, Shelley Thomas, Paul Voss, Anne K. Thomas, Tim Gécz, Jozef Craig, Jamie E. Mackey, David A.

Citation: P. Burdon, Kathryn et al., 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), 2003, pp. 1120-1130