Hasil Pencarian - Andrew R Webster

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  1. 1
    Retinal detachment in retinitis pigmentosa

    Retinal detachment in retinitis pigmentosa oleh Michel Michaelides, Andrew R Webster, Weng Onn Chan, Nicholas Brennan, Mahiul M K Muqit

    Diterbitkan 2020-10-01
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  2. 2
    Novel Biallelic Variants and Phenotypic Features in Patients with <i>SLC38A8</i>-Related Foveal Hypoplasia

    Novel Biallelic Variants and Phenotypic Features in Patients with <i>SLC38A8</i>-Related Foveal Hypoplasia oleh Elena R. Schiff, Vijay K. Tailor, Hwei Wuen Chan, Maria Theodorou, Andrew R. Webster, Mariya Moosajee

    Diterbitkan 2021-01-01
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  3. 3
    Isolated rod dysfunction associated with a novel genotype of CNGB1

    Isolated rod dysfunction associated with a novel genotype of CNGB1 oleh Rola Ba-Abbad, Graham E. Holder, Anthony G. Robson, Magella M. Neveu, Naushin Waseem, Gavin Arno, Andrew R. Webster

    Diterbitkan 2019-06-01
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  4. 4
    Genome-wide RNA-Sequencing analysis identifies a distinct fibrosis gene signature in the conjunctiva after glaucoma surgery

    Genome-wide RNA-Sequencing analysis identifies a distinct fibrosis gene signature in the conjunctiva after glaucoma surgery oleh Cynthia Yu-Wai-Man, Nicholas Owen, Jonathan Lees, Aristides D. Tagalakis, Stephen L. Hart, Andrew R. Webster, Christine A. Orengo, Peng T. Khaw

    Diterbitkan 2017-07-01
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  5. 5
    Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.

    Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation. oleh 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

    Diterbitkan 2023-02-01
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  6. 6
    Panel‐based genetic testing for inherited retinal disease screening 176 genes

    Panel‐based genetic testing for inherited retinal disease screening 176 genes oleh Leo H. N. Sheck, Simona D. Esposti, Omar A. Mahroo, Gavin Arno, Nikolas Pontikos, Genevieve Wright, Andrew R. Webster, Kamron N. Khan, Michel Michaelides

    Diterbitkan 2021-12-01
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  7. 7
    Investigating Splice Defects in <i>USH2A</i> Using Targeted Long-Read Sequencing

    Investigating Splice Defects in <i>USH2A</i> Using Targeted Long-Read Sequencing oleh Shwetha Chandrasekhar, Siying Lin, Neringa Jurkute, Kathryn Oprych, Leire Estramiana Elorrieta, Elena Schiff, Samantha Malka, Genevieve Wright, Michel Michaelides, Omar A. Mahroo, Andrew R. Webster, Gavin Arno

    Diterbitkan 2024-07-01
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  8. 8
    Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study

    Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study oleh 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

    Diterbitkan 2022-01-01
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  9. 9
    Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease.

    Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease. oleh 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

    Diterbitkan 2017-01-01
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  10. 10
    Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

    Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C oleh 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

    Diterbitkan 2023-03-01
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  11. 11
    Visual Acuity by Decade in 139 Males with RPGR-Associated Retinitis Pigmentosa

    Visual Acuity by Decade in 139 Males with RPGR-Associated Retinitis Pigmentosa oleh 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

    Diterbitkan 2024-03-01
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  12. 12
    Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

    Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus oleh Valentina Cipriani, Raquel S. Silva, Gavin Arno, Nikolas Pontikos, Ambreen Kalhoro, Sandra Valeina, Inna Inashkina, Mareta Audere, Katrina Rutka, Bernard Puech, Michel Michaelides, Veronica van Heyningen, Baiba Lace, Andrew R. Webster, Anthony T. Moore

    Diterbitkan 2017-08-01
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  13. 13
    Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs

    Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs oleh Conor M. Ramsden, Britta Nommiste, Amelia R. Lane, Amanda-Jayne F. Carr, Michael B. Powner, Matthew J. K. Smart, Li Li Chen, Manickam N. Muthiah, Andrew R. Webster, Anthony T. Moore, Michael E. Cheetham, Lyndon da Cruz, Peter J. Coffey

    Diterbitkan 2017-03-01
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  14. 14
    Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

    Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy. oleh Mei Hong Tan, Donna S Mackay, Jill Cowing, Hoai Viet Tran, Alexander J Smith, Genevieve A Wright, Arundhati Dev-Borman, Robert H Henderson, Phillip Moradi, Isabelle Russell-Eggitt, Robert E MacLaren, Anthony G Robson, Michael E Cheetham, Dorothy A Thompson, Andrew R Webster, Michel Michaelides, Robin R Ali, Anthony T Moore

    Diterbitkan 2012-01-01
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  15. 15
    Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

    Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing oleh Alba Sanchis-Juan, Jonathan Stephens, Courtney E. French, Nicholas Gleadall, Karyn Mégy, Christopher Penkett, Olga Shamardina, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Luca Stefanucci, Gavin Arno, Andrew R. Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, Willem H. Ouwehand, F. Lucy Raymond, Keren J. Carss

    Diterbitkan 2018-12-01
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  16. 16
    Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

    Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease oleh Mubeen Khan, Gavin Arno, Ana Fakin, David A. Parfitt, Patty P.A. Dhooge, Silvia Albert, Nathalie M. Bax, Lonneke Duijkers, Michael Niblock, Kwan L. Hau, Edward Bloch, Elena R. Schiff, Davide Piccolo, Michael C. Hogden, Carel B. Hoyng, Andrew R. Webster, Frans P.M. Cremers, Michael E. Cheetham, Alejandro Garanto, Rob W.J. Collin

    Diterbitkan 2020-09-01
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  17. 17
    Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)

    Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene) oleh 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

    Diterbitkan 2023-03-01
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  18. 18
    Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

    Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype oleh 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

    Diterbitkan 2022-10-01
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  19. 19
    Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

    Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders oleh Charlie Rowlands, Huw B. Thomas, Jenny Lord, Htoo A. Wai, Gavin Arno, Glenda Beaman, Panagiotis Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Simon Ramsden, Elizabeth Jones, Jill Clayton-Smith, Andrew R. Webster, Genomics England Research Consortium, Andrew G. L. Douglas, Raymond T. O’Keefe, William G. Newman, Diana Baralle, Graeme C. M. Black, Jamie M. Ellingford

    Diterbitkan 2021-10-01
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  20. 20
    Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

    Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD oleh Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba-Abbad, Emily M. Place, Erin Zampaglione, Naomi E. Wagner, Anne B. Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Ala’a AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben-Yosef, Eric A. Pierce, Carlo Rivolta, Andrew R. Webster, Gavin Arno, Dror Sharon, Rachel M. Huckfeldt, Kinga M. Bujakowska

    Diterbitkan 2021-06-01
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