Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

Por Li, Zheng, Sergouniotis, Panagiotis I., Michaelides, Michel, Mackay, Donna S., Wright, Genevieve A., Devery, Sophie, Moore, Anthony T., Holder, Graham E., Robson, Anthony G., Webster, Andrew R.
Publicado em 2009

Understanding the impact of genetic testing for inherited retinal dystrophy

Por Combs, Ryan, McAllister, Marion, Payne, Katherine, Lowndes, Jo, Devery, Sophie, Webster, Andrew R, Downes, Susan M, Moore, Anthony T, Ramsden, Simon, Black, Graeme, Hall, Georgina
Publicado em 2013

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy

Por Mukhopadhyay, Rajarshi, Sergouniotis, Panagiotis I., Mackay, Donna S., Day, Alexander C., Wright, Genevieve, Devery, Sophie, Leroy, Bart P., Robson, Anthony G., Holder, Graham E., Li, Zheng, Webster, Andrew R.
Publicado em 2010

X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins

Por Gardner, Jessica C., Webb, Tom R., Kanuga, Naheed, Robson, Anthony G., Holder, Graham E., Stockman, Andrew, Ripamonti, Caterina, Ebenezer, Neil D., Ogun, Olufunmilola, Devery, Sophie, Wright, Genevieve A., Maher, Eamonn R., Cheetham, Michael E., Moore, Anthony T., Michaelides, Michel, Hardcastle, Alison J.
Publicado em 2010

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Por Ostergaard, Pia, Simpson, Michael A., Mendola, Antonella, Vasudevan, Pradeep, Connell, Fiona C., van Impel, Andreas, Moore, Anthony T., Loeys, Bart L., Ghalamkarpour, Arash, Onoufriadis, Alexandros, Martinez-Corral, Ines, Devery, Sophie, Leroy, Jules G., van Laer, Lut, Singer, Amihood, Bialer, Martin G., McEntagart, Meriel, Quarrell, Oliver, Brice, Glen, Trembath, Richard C., Schulte-Merker, Stefan, Makinen, Taija, Vikkula, Miikka, Mortimer, Peter S., Mansour, Sahar, Jeffery, Steve
Publicado em 2012