Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma

por Mackay, Donna S., Bennett, Thomas M., Shiels, Alan
Publicado 2015

Mutation of the Melastatin-Related Cation Channel, TRPM3, Underlies Inherited Cataract and Glaucoma

por Bennett, Thomas M., Mackay, Donna S., Siegfried, Carla J., Shiels, Alan
Publicado 2014

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract

por Mackay, Donna S, Bennett, Thomas M, Culican, Susan M, Shiels, Alan
Publicado 2014

Biallelic mutation of Protocadherin-21 (PCDH21) causes retinal degeneration in humans

por Henderson, Robert H., Li, Zheng, El Aziz, Mai M. Abd, Mackay, Donna S., Eljinini, Mohammad A., Zeidan, Marwan, Moore, Anthony T., Bhattacharya, Shomi S., Webster, Andrew R.
Publicado 2010

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 2010

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy

por Mackay, Donna S., Henderson, Robert H., Sergouniotis, Panagiotis I., Li, Zheng, Moradi, Phillip, Holder, Graham E., Waseem, Naushin, Bhattacharya, Shomi S., Aldahmesh, Mohammed A., Alkuraya, Fowzan S., Meyer, Brian, Webster, Andrew R., Moore, Anthony T.
Publicado 2010

RDH12 retinopathy: novel mutations and phenotypic description

por Mackay, Donna S., Dev Borman, Arundhati, Moradi, Phillip, Henderson, Robert H., Li, Zheng, Wright, Genevieve A., Waseem, Naushin, Gandra, Mamatha, Thompson, Dorothy A., Bhattacharya, Shomi S., Holder, Graham E., Webster, Andrew R., Moore, Anthony T.
Publicado 2011

A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity

por Borman, Arundhati Dev, Pearce, Laura R, Mackay, Donna S, Nagel-Wolfrum, Kerstin, Davidson, Alice E, Henderson, Robert, Garg, Sumedha, Waseem, Naushin H, Webster, Andrew R, Plagnol, Vincent, Wolfrum, Uwe, Farooqi, I Sadaf, Moore, Anthony T
Publicado 2014

Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

por Tan, Mei Hong, Mackay, Donna S., Cowing, Jill, Tran, Hoai Viet, Smith, Alexander J., Wright, Genevieve A., Dev-Borman, Arundhati, Henderson, Robert H., Moradi, Phillip, Russell-Eggitt, Isabelle, MacLaren, Robert E., Robson, Anthony G., Cheetham, Michael E., Thompson, Dorothy A., Webster, Andrew R., Michaelides, Michel, Ali, Robin R., Moore, Anthony T.
Publicado 2012

Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes

por Lescai, Francesco, Bonfiglio, Silvia, Bacchelli, Chiara, Chanudet, Estelle, Waters, Aoife, Sisodiya, Sanjay M., Kasperavičiūtė, Dalia, Williams, Julie, Harold, Denise, Hardy, John, Kleta, Robert, Cirak, Sebahattin, Williams, Richard, Achermann, John C., Anderson, John, Kelsell, David, Vulliamy, Tom, Houlden, Henry, Wood, Nicholas, Sheerin, Una, Tonini, Gian Paolo, Mackay, Donna, Hussain, Khalid, Sowden, Jane, Kinsler, Veronica, Osinska, Justyna, Brooks, Tony, Hubank, Mike, Beales, Philip, Stupka, Elia
Publicado 2012

NMNAT1 mutations cause Leber congenital amaurosis

por Falk, Marni J, Zhang, Qi, Nakamaru-Ogiso, Eiko, Kannabiran, Chitra, Fonseca-Kelly, Zoe, Chakarova, Christina, Audo, Isabelle, Mackay, Donna S, Zeitz, Christina, Borman, Arundhati Dev, Staniszewska, Magdalena, Shukla, Rachna, Palavalli, Lakshmi, Mohand-Said, Saddek, Waseem, Naushin H, Jalali, Subhadra, Perin, Juan C, Place, Emily, Ostrovsky, Julian, Xiao, Rui, Bhattacharya, Shomi S, Consugar, Mark, Webster, Andrew R, Sahel, José-Alain, Moore, Anthony T, Berson, Eliot L, Liu, Qin, Gai, Xiaowu, Pierce, Eric A.
Publicado 2012