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Ophthalmic Genetics Volume 39, 2018 - Issue 6
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Case Reports

Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration

Shyamanga BorooahDepartment of Ophthalmology, Moorfields Eye Hospital, London, UK;Centre for Clinical Brain Sciences, School of Clinical Sciences, University of Edinburgh, Edinburgh, UK;Shiley Eye Institute, University of California, San Diego, La Jolla, CA, USACorrespondence[email protected]
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,
Chloe M. StantonMedical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UKView further author information
,
Joseph MarshMedical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UKView further author information
,
Keren J. CarssDepartment of Hematology, University of Cambridge, Cambridge, UK;NIHR BioResource - rare diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UKView further author information
,
Naushin WaseemInstitute of Ophthalmology, University College London, London, UKView further author information
,
Pooja BiswasShiley Eye Institute, University of California, San Diego, La Jolla, CA, USAView further author information
,
Georgios AgorogiannisDepartment of Ophthalmology, Moorfields Eye Hospital, London, UKView further author information
,
Lucy RaymondNIHR BioResource - rare diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK;Department of Medical Genetics, University of Cambridge, Cambridge, UKView further author information
,
Gavin ArnoDepartment of Ophthalmology, Moorfields Eye Hospital, London, UK;Institute of Ophthalmology, University College London, London, UKView further author information
&
Andrew R. WebsterDepartment of Ophthalmology, Moorfields Eye Hospital, London, UK;Institute of Ophthalmology, University College London, London, UKORCID Iconhttp://orcid.org/0000-0001-6915-9560View further author information
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Pages 763-770 | Received 04 Sep 2018, Accepted 04 Nov 2018, Published online: 19 Nov 2018

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Julie De Zaeytijd, Frauke Coppieters, Marieke De Bruyne, Jasper Van Royen, Dimitri Roels, Rani Six, Caroline Van Cauwenbergh, Elfride De Baere & Bart P. Leroy. (2021) Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene. Ophthalmic Genetics 42:5, pages 521-532.
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Articles from other publishers (9)

Rachael C. Heath Jeffery & Fred K. Chen. (2024) Macular neovascularization in inherited retinal diseases: A review. Survey of Ophthalmology 69:1, pages 1-23.
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Rebekkah J. Hitti‐Malin, Claire‐Marie Dhaenens, Daan M. Panneman, Zelia Corradi, Mubeen Khan, Anneke I. den Hollander, G. Jane Farrar, Christian Gilissen, Alexander Hoischen, Maartje van de Vorst, Femke Bults, Erica G. M. Boonen, Patrick Saunders, Susanne Roosing & Frans P. M. Cremers. (2022) Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases. Human Mutation 43:12, pages 2234-2250.
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Leonardo Lando & Shyamanga Borooah. (2022) Late-Onset Retinal Degeneration: Clinical Perspectives. Clinical Ophthalmology Volume 16, pages 3225-3246.
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Lisa BackwellJoseph A. Marsh. (2022) Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm. Annual Review of Genomics and Human Genetics 23:1, pages 475-498.
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Xiang Ren, Yunxia Gao, Yu Lin, Xiangyu Fu, Lirong Xiao, Xiaoyue Wang, Zhibing Zeng, Li Bao, Naihong Yan, Ming Zhang & Li Tang. (2022) A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family. Frontiers in Medicine 9.
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Shyamanga Borooah, Vasileios Papastavrou, Leonardo Lando, Jonathan Han, Jonathan H. Lin, Radha Ayyagari, Baljean Dhillon & Andrew C. Browning. (2021) Reticular Pseudodrusen in Late-Onset Retinal Degeneration. Ophthalmology Retina 5:10, pages 1043-1051.
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Ulrich Kellner, Nicole Weisschuh, Silke Weinitz, Ghazaleh Farmand, Sebastian Deutsch, Friederike Kortüm, Pascale Mazzola, Karin Schäferhoff, Valerio Marino & Daniele Dell’Orco. (2021) Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant. International Journal of Molecular Sciences 22:4, pages 2089.
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Ana Rodríguez-Muñoz, Elena Aller, Teresa Jaijo, Emilio González-García, Ana Cabrera-Peset, Roberto Gallego-Pinazo, Patricia Udaondo, David Salom, Gema García-García & José M. Millán. (2020) Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies. The Journal of Molecular Diagnostics 22:4, pages 532-543.
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Anil Chekuri, Katarzyna Zientara‐Rytter, Angel Soto‐Hermida, Shyamanga Borooah, Marina Voronchikhina, Pooja Biswas, Virender Kumar, David Goodsell, Caroline Hayward, Peter Shaw, Chloe Stanton, Donita Garland, Suresh Subramani & Radha Ayyagari. (2019) Late‐onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1. Aging Cell 18:6.
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