Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Por Borruat, François-Xavier, Holder, Graham E., Bremner, Fion
Publicado no Front Neurol (2017)

The clinical features of retinal disease due to a dominant mutation in RPE65

Por Hull, Sarah, Mukherjee, Rajarshi, Holder, Graham E., Moore, Anthony T., Webster, Andrew R.
Publicado no Mol Vis (2016)

ISCEV standard for clinical pattern electroretinography—2007 update

Por Holder, Graham E., Brigell, Mitchell G., Hawlina, Marko, Meigen, Thomas, Vaegan, Bach, Michael
Publicado em 2007

Novel Phenotypic and Genotypic Findings in X-Linked Retinoschisis

Por Tsang, Stephen H., Vaclavik, Veronika, Bird, Alan C., Robson, Anthony G., Holder, Graham E.
Publicado em 2007

The Structure and Function of the Macula in Patients with Advanced Retinitis Pigmentosa

Por Vámos, Rita, Tátrai, Erika, Németh, János, Holder, Graham E., DeBuc, Delia Cabrera, Somfai, Gábor Márk
Publicado em 2011

Clinical characteristics of early retinal disease due to CDHR1 mutation

Por Ba-Abbad, Rola, Sergouniotis, Panagiotis I., Plagnol, Vincent, Robson, Anthony G., Michaelides, Michel, Holder, Graham E., Webster, Andrew R.
Publicado em 2013

Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update

Por Robson, Anthony G., Michaelides, Michel, Saihan, Zubin, Bird, Alan C., Webster, Andrew R., Moore, Anthony T., Fitzke, Fred W., Holder, Graham E.
Publicado em 2007

Blue cone monochromacy: Causative mutations and associated phenotypes

Por Gardner, Jessica C., Michaelides, Michel, Holder, Graham E., Kanuga, Naheed, Webb, Tom R., Mollon, John D., Moore, Anthony T., Hardcastle, Alison J.
Publicado em 2009

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes

Por Sergeev, Yuri V., Vitale, Susan, Sieving, Paul A., Vincent, Ajoy, Robson, Anthony G., Moore, Anthony T., Webster, Andrew R., Holder, Graham E.
Publicado em 2013

Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study

Por Low, Sancy, Davidson, Alice E., Holder, Graham E., Hogg, Chris R., Bhattacharya, Shomi S., Black, Graeme C., Foster, Paul J., Webster, Andrew R.
Publicado em 2011

Unilateral BEST1-Associated Retinopathy

Por Arora, Rashi, Khan, Kamron, Kasilian, Melissa L., Strauss, Rupert W., Holder, Graham E., Robson, Anthony G., Thompson, Dorothy A., Moore, Anthony T., Michaelides, Michel
Publicado no Am J Ophthalmol (2016)

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

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

Por Henderson, Robert H., Williamson, Kathleen A., Kennedy, Joanna S., Webster, Andrew R., Holder, Graham E., Robson, Anthony G., FitzPatrick, David R., van Heyningen, Veronica, Moore, Anthony T.
Publicado em 2009

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

Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease

Por Fujinami, Kaoru, Zernant, Jana, Chana, Ravinder K., Wright, Genevieve A., Tsunoda, Kazushige, Ozawa, Yoko, Tsubota, Kazuo, Robson, Anthony G., Holder, Graham E., Allikmets, Rando, Michaelides, Michel, Moore, Anthony T.
Publicado no Ophthalmology (2014)

Benign Yellow Dot Maculopathy - a new macular phenotype

Por Borman, Arundhati Dev, Rachitskaya, Aleksandra, Suzani, Martina, Sisk, Robert A., Ahmed, Zubair M., Holder, Graham E., Cipriani, Valentina, Arno, Gavin, Webster, Andrew R., Hufnagel, Robert B., Berrocal, Audina, Moore, Anthony T.
Publicado no Ophthalmology (2017)

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 em 2010

A randomised controlled trial investigating the effect of n-3 long-chain polyunsaturated fatty acid supplementation on cognitive and retinal function in cognitively healthy older p...

Por Dangour, Alan D, Clemens, Felicity, Elbourne, Diana, Fasey, Nicky, Fletcher, Astrid E, Hardy, Pollyanna, Holder, Graham E, Huppert, Felicia A, Knight, Rosemary, Letley, Louise, Richards, Marcus, Truesdale, Ann, Vickers, Madge, Uauy, Ricardo
Publicado em 2006

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 em 2011

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

Por 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.
Publicado em 2006