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Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
Pontikos, Nikolas, Arno, Gavin, Jurkute, Neringa, Schiff, Elena, Ba-Abbad, Rola, Malka, Samantha, Gimenez, Ainoa, Georgiou, Michalis, Wright, Genevieve, Armengol, Monica, Knight, Hannah, Katz, Menachem, Moosajee, Mariya, Yu-Wai-Man, Patrick, Moore, Anthony T., Michaelides, Michel, Webster, Andrew R., Mahroo, Omar A.
Published in Ophthalmology (Rochester, Minn.) (01.10.2020)
Published in Ophthalmology (Rochester, Minn.) (01.10.2020)
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Journal Article
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes
Georgiou, Michalis, Robson, Anthony G., Fujinami, Kaoru, de Guimarães, Thales A.C., Fujinami-Yokokawa, Yu, Daich Varela, Malena, Pontikos, Nikolas, Kalitzeos, Angelos, Mahroo, Omar A., Webster, Andrew R., Michaelides, Michel
Published in Progress in retinal and eye research (01.05.2024)
Published in Progress in retinal and eye research (01.05.2024)
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Journal Article
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
De Silva, Samantha R., Arno, Gavin, Robson, Anthony G., Fakin, Ana, Pontikos, Nikolas, Mohamed, Moin D., Bird, Alan C., Moore, Anthony T., Michaelides, Michel, Webster, Andrew R., Mahroo, Omar A.
Published in Progress in retinal and eye research (01.05.2021)
Published in Progress in retinal and eye research (01.05.2021)
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Journal Article
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial
MacLaren, Robert E, Groppe, Markus, Barnard, Alun R, Cottriall, Charles L, Tolmachova, Tanya, Seymour, Len, Clark, K Reed, During, Matthew J, Cremers, Frans P M, Black, Graeme C M, Lotery, Andrew J, Downes, Susan M, Webster, Andrew R, Seabra, Miguel C
Published in The Lancet (British edition) (29.03.2014)
Published in The Lancet (British edition) (29.03.2014)
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Journal Article
Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia
Xue, Kanmin, Jolly, Jasleen K, Barnard, Alun R, Rudenko, Anna, Salvetti, Anna P, Patrício, Maria I, Edwards, Thomas L, Groppe, Markus, Orlans, Harry O, Tolmachova, Tanya, Black, Graeme C, Webster, Andrew R, Lotery, Andrew J, Holder, Graham E, Downes, Susan M, Seabra, Miguel C, MacLaren, Robert E
Published in Nature medicine (01.10.2018)
Published in Nature medicine (01.10.2018)
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Journal Article
Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa
Liew, Gerald, Strong, Stacey, Bradley, Patrick, Severn, Philip, Moore, Anthony T, Webster, Andrew R, Mitchell, Paul, Kifley, Annette, Michaelides, Michel
Published in British journal of ophthalmology (01.08.2019)
Published in British journal of ophthalmology (01.08.2019)
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Journal Article
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History
Daich Varela, Malena, Georgiou, Michalis, Alswaiti, Yahya, Kabbani, Jamil, Fujinami, Kaoru, Fujinami-Yokokawa, Yu, Khoda, Shaheeni, Mahroo, Omar A., Robson, Anthony G., Webster, Andrew R., AlTalbishi, Alaa, Michaelides, Michel
Published in American journal of ophthalmology (01.02.2023)
Published in American journal of ophthalmology (01.02.2023)
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Journal Article
Visual Acuity after Retinal Gene Therapy for Choroideremia
Edwards, Thomas L, Jolly, Jasleen K, Groppe, Markus, Barnard, Alun R, Cottriall, Charles L, Tolmachova, Tanya, Black, Graeme C, Webster, Andrew R, Lotery, Andrew J, Holder, Graham E, Xue, Kanmin, Downes, Susan M, Simunovic, Matthew P, Seabra, Miguel C, MacLaren, Robert E
Published in The New England journal of medicine (19.05.2016)
Published in The New England journal of medicine (19.05.2016)
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Journal Article
GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies
Bouzia, Zaina, Georgiou, Michalis, Hull, Sarah, Robson, Anthony G., Fujinami, Kaoru, Rotsos, Tryfon, Pontikos, Nikolas, Arno, Gavin, Webster, Andrew R., Hardcastle, Alison J., Fiorentino, Alessia, Michaelides, Michel
Published in American journal of ophthalmology (01.02.2020)
Published in American journal of ophthalmology (01.02.2020)
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Journal Article
Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History
Georgiou, Michalis, Grewal, Parampal S., Narayan, Akshay, Alser, Muath, Ali, Naser, Fujinami, Kaoru, Webster, Andrew R., Michaelides, Michel
Published in American journal of ophthalmology (01.01.2021)
Published in American journal of ophthalmology (01.01.2021)
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Journal Article
A Longitudinal Study of Stargardt Disease: Quantitative Assessment of Fundus Autofluorescence, Progression, and Genotype Correlations
Fujinami, Kaoru, Lois, Noemi, Mukherjee, Rajarshi, McBain, Vikki A., Tsunoda, Kazushige, Tsubota, Kazuo, Stone, Edwin M., Fitzke, Fred W., Bunce, Catey, Moore, Anthony T., Webster, Andrew R., Michaelides, Michel
Published in Investigative ophthalmology & visual science (17.12.2013)
Published in Investigative ophthalmology & visual science (17.12.2013)
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Journal Article
Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy
Hashem, Shaima Awadh, Georgiou, Michalis, Fujinami-Yokokawa, Yu, Laich, Yannik, Daich Varela, Malena, de Guimaraes, Thales A.C., Ali, Naser, Mahroo, Omar A., Webster, Andrew R., Fujinami, Kaoru, Michaelides, Michel
Published in American journal of ophthalmology (01.07.2024)
Published in American journal of ophthalmology (01.07.2024)
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Journal Article
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
Sanchis-Juan, Alba, Stephens, Jonathan, French, Courtney E., Gleadall, Nicholas, Mégy, Karyn, Penkett, Christopher, Shamardina, Olga, Stirrups, Kathleen, Delon, Isabelle, Dewhurst, Eleanor, Dolling, Helen, Erwood, Marie, Grozeva, Detelina, Stefanucci, Luca, Arno, Gavin, Webster, Andrew R., Cole, Trevor, Austin, Topun, Branco, Ricardo Garcia, Ouwehand, Willem H., Raymond, F. Lucy, Carss, Keren J.
Published in Genome medicine (07.12.2018)
Published in Genome medicine (07.12.2018)
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Journal Article
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
Arno, Gavin, Agrawal, Smriti A., Eblimit, Aiden, Bellingham, James, Xu, Mingchu, Wang, Feng, Chakarova, Christina, Parfitt, David A., Lane, Amelia, Burgoyne, Thomas, Hull, Sarah, Carss, Keren J., Fiorentino, Alessia, Hayes, Matthew J., Munro, Peter M., Nicols, Ralph, Pontikos, Nikolas, Holder, Graham E., Black, Graeme, Hall, Georgina, Ingram, Stuart, Gillespie, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Inglehearn, Chris, Toomes, Carmel, Ali, Manir, McKibbin, Martin, Poulter, James, Khan, Kamron, Lord, Emma, Nemeth, Andrea, Downes, Susan, Yu, Jing, Lise, Stefano, Arno, Gavin, Fiorentino, Alessia, Ponitkos, Nikos, Plagnol, Vincent, Michaelides, Michel, Hardcastle, Alison J., Cheetham, Michael E., Webster, Andrew R., van Heyningen, Veronica, Asomugha, Chinwe, Raymond, F. Lucy, Moore, Anthony T., Plagnol, Vincent, Michaelides, Michel, Hardcastle, Alison J., Li, Yumei, Cukras, Catherine, Webster, Andrew R., Cheetham, Michael E., Chen, Rui
Published in American journal of human genetics (01.12.2016)
Published in American journal of human genetics (01.12.2016)
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Journal Article
Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1 , Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1
Martin-Gutierrez, Maria Pilar, Schiff, Elena R., Wright, Genevieve, Waseem, Naushin, Mahroo, Omar A., Michaelides, Michel, Moore, Anthony T., Webster, Andrew R., Arno, Gavin
Published in Investigative ophthalmology & visual science (10.08.2022)
Published in Investigative ophthalmology & visual science (10.08.2022)
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Journal Article
Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy
Halford, Stephanie, Liew, Gerald, Mackay, Donna S., Sergouniotis, Panagiotis I., Holt, Richard, Broadgate, Suzanne, Volpi, Emanuela V., Ocaka, Louise, Robson, Anthony G., Holder, Graham E., Moore, Anthony T., Michaelides, Michel, Webster, Andrew R.
Published in Ophthalmology (Rochester, Minn.) (01.06.2014)
Published in Ophthalmology (Rochester, Minn.) (01.06.2014)
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Journal Article
An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK Biobank
Simcoe, Mark J., Arno, Gavin, Hysi, Pirro G., Ko, Tony, Michaelides, Michel, Hammond, Christopher J., Patel, Praveen J., Mahroo, Omar A., Webster, Andrew R.
Published in Investigative ophthalmology & visual science (21.06.2023)
Published in Investigative ophthalmology & visual science (21.06.2023)
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Journal Article
Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis
Sergouniotis, Panagiotis I., Davidson, Alice E., Mackay, Donna S., Li, Zheng, Yang, Xu, Plagnol, Vincent, Moore, Anthony T., Webster, Andrew R.
Published in American journal of human genetics (15.07.2011)
Published in American journal of human genetics (15.07.2011)
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Journal Article