Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.

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Title: Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Authors: Lin S; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Vermeirsch S; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom., Pontikos N; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Martin-Gutierrez MP; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom., Daich Varela M; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Malka S; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Schiff E; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Knight H; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Wright G; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Jurkute N; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom; Department of Neuro-Ophhalmology, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom., Simcoe MJ; UCL Institute of Ophthalmology, University College London, United Kingdom., Yu-Wai-Man P; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Moosajee M; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Michaelides M; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Mahroo OA; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom; Department of Ophthalmology, St Thomas' Hospital, London, United Kingdom., Webster AR; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Arno G; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom. Electronic address: g.arno@ucl.ac.uk.
Source: Ophthalmology. Retina [Ophthalmol Retina] 2024 Jul; Vol. 8 (7), pp. 699-709. Date of Electronic Publication: 2024 Jan 12.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Published by Elsevier Inc. on behalf of American Academy of Ophthalmology Country of Publication: United States NLM ID: 101695048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2468-6530 (Electronic) Linking ISSN: 24686530 NLM ISO Abbreviation: Ophthalmol Retina Subsets: MEDLINE
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  Data: Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
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  Data: <searchLink fieldCode="AU" term="%22Lin+S%22">Lin S</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Vermeirsch+S%22">Vermeirsch S</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Pontikos+N%22">Pontikos N</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Martin-Gutierrez+MP%22">Martin-Gutierrez MP</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Daich+Varela+M%22">Daich Varela M</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Malka+S%22">Malka S</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Schiff+E%22">Schiff E</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Knight+H%22">Knight H</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Wright+G%22">Wright G</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Jurkute+N%22">Jurkute N</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom; Department of Neuro-Ophhalmology, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Simcoe+MJ%22">Simcoe MJ</searchLink>; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Yu-Wai-Man+P%22">Yu-Wai-Man P</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Moosajee+M%22">Moosajee M</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Michaelides+M%22">Michaelides M</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Mahroo+OA%22">Mahroo OA</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom; Department of Ophthalmology, St Thomas' Hospital, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Webster+AR%22">Webster AR</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Arno+G%22">Arno G</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom. 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