Showing 1 - 15 results of 15 for search 'Andrew S. Webster', query time: 0.03s
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Isolated rod dysfunction associated with a novel genotype of CNGB1 by Rola Ba-Abbad, Graham E. Holder, Anthony G. Robson, Magella M. Neveu, Naushin Waseem, Gavin Arno, Andrew R. Webster
Published 2019-06-01
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Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation. by Hannah Currant, Tomas W Fitzgerald, Praveen J Patel, Anthony P Khawaja, UK Biobank Eye and Vision Consortium, Andrew R Webster, Omar A Mahroo, Ewan Birney
Published 2023-02-01
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Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study by Rose M Gilbert, Dayyanah Sumodhee, Nikolas Pontikos, Catherine Hollyhead, Angus Patrick, Samuel Scarles, Sabrina Van Der Smissen, Rodrigo M Young, Nick Nettleton, Andrew R Webster, Jocelyn Cammack
Published 2022-01-01
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Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease. by Stanley Lambertus, Nathalie M Bax, Ana Fakin, Joannes M M Groenewoud, B Jeroen Klevering, Anthony T Moore, Michel Michaelides, Andrew R Webster, Gert Jan van der Wilt, Carel B Hoyng
Published 2017-01-01
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Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C by Melita Kaltak, Petra de Bruijn, Davide Piccolo, Sang-Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, Andrew R. Webster, Rob W.J. Collin, Michael E. Cheetham, Gerard Platenburg, Jim Swildens
Published 2023-03-01
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Visual Acuity by Decade in 139 Males with RPGR-Associated Retinitis Pigmentosa by Samantha R. De Silva, DPhil, FRCOphth, Hwei Wuen Chan, MD, FRCOphth, Aditi Agarwal, MRCOphth, FICO, Andrew R. Webster, MD, FRCOphth, Michel Michaelides, MD, FRCOphth, Omar A. Mahroo, PhD, FRCOphth
Published 2024-03-01
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An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data by Valentina Cipriani, Nikolas Pontikos, Gavin Arno, Panagiotis I. Sergouniotis, Eva Lenassi, Penpitcha Thawong, Daniel Danis, Michel Michaelides, Andrew R. Webster, Anthony T. Moore, Peter N. Robinson, Julius O.B. Jacobsen, Damian Smedley
Published 2020-04-01
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Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene) by Sagnik Sen, Michel Michaelides, Andrew R Webster, Konstantinos Balaskas, Kaoru Fujinami, Manuel Gomes, Nikolas Pontikos, Susan M Downes, Malena Daich Varela, Omar A Mahroo, Thales Antonio Cabral de Guimaraes, Stephen Archer, Gavin Arno, Mital Shah, Savita Madhusudhan, Quang Nguyen, William Woof, Nathaniel Kabiri, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Jennifer Furman
Published 2023-03-01
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Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype by Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li, Robert A. Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B. Haack, Katarina Stingl, Genomics England Research Consortium, Carel B. Hoyng, Omar A. Mahroo, Iain Hargreaves, F. Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R. Webster, Gavin Arno
Published 2022-10-01
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Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease by Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters
Published 2024-01-01
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SynthEye: Investigating the Impact of Synthetic Data on Artificial Intelligence-assisted Gene Diagnosis of Inherited Retinal Disease by Yoga Advaith Veturi, MSc, William Woof, PhD, Teddy Lazebnik, PhD, Ismail Moghul, PhD, Peter Woodward-Court, PhD, MBBS, Siegfried K. Wagner, BMBCh, Thales Antonio Cabral de Guimarães, PhD, MD, Malena Daich Varela, PhD, MD, Bart Liefers, PhD, Praveen J. Patel, MBBChir MD(Res), Stephan Beck, PhD, Andrew R. Webster, FRCOphth, Omar Mahroo, PhD, MBBChir, Pearse A. Keane, MD, MB BCH BAO, Michel Michaelides, MD, Konstantinos Balaskas, MD, Nikolas Pontikos, PhD
Published 2023-06-01
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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision by Paul W. Chrystal, Nils J. Lambacher, Lance P. Doucette, James Bellingham, Elena R. Schiff, Nicole C. L. Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A. Casey, Yi Zhai, Nathan J. Nadolski, Mohammed H. Majumder, Julia Tagoe, Fabiana D’Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie Ellingford, Genomics England Research Consortium, Omar A. Mahroo, Jennifer C. Hocking, Michael E. Cheetham, Andrew R. Webster, Gert Jansen, Oliver E. Blacque, W. Ted Allison, Ping Yee Billie Au, Ian M. MacDonald, Gavin Arno, Michel R. Leroux
Published 2022-11-01
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