Specific alleles of CLN7/MFSD8, a protein that localizes to photoreceptor synaptic terminals, cause a spectrum of nonsyndromic retinal dystrophy

Webster, A. R.; von Ziegenweldt, J.; Welch, S.; Westbury, S.; Wharton, J.; Whitehorn, D.; Wilkins, M.; Willcocks, L.; Williamson, C.; Woods, G.; Wort, J.; Yeatman, N.; Yong, P.; Young, T.; Yu, P.; Yu, J.; Poulter, J. A.; Khan, Kamron N.; Inglehearn, C. F.; El-Asrag, Mohammed E.; Moore, A. T.; Aitman, T.; Alachkar, H.; Ali, S.; Allen, L.; Ku, Cristy A.; Allsup, D.; Ambegaonkar, G.; Anderson, J.; Antrobus, R.; Armstrong, R.; Arumugakani, G.; Ashford, S.; Astle, W.; Attwood, A.; Holder, Graham E.; Austin, S.; Bacchelli, C.; Bakchoul, T.; Bariana, T. K.; Baxendale, H.; Bennett, D.; Bethune, C.; Bibi, S.; McKibbin, Martin; Bitner-Glindzicz, M.; Bleda, M.; Boggard, H.; Bolton-Maggs, P.; Booth, C.; Bradley,; Brady, A.; Brown, M.; Arno, Gavin; Browning, M.; Bryson, C.; Burns, S.; Calleja, P.; Canham, N.; Carmichael, J.; Caulfield, M.; Chalmers, E.; Chandra, A.; Chinnery, P.; Chitre, M.; Church, C.; Clement, E.; Clements-Brod, N.; Clowes,; Coghlan, G.; Collins, P.; Carss, Keren; Cooper, N.; Creaser-Myers, A.; Dacosta, R.; Daugherty, L.; Davies, S.; Davis, J.; De Vries, M.; Deegan, P.; Bommireddy, Tejaswi; Deevi, S.; Deshpande, C.; Devlin, L.; Dewhurst, E.; Doffinger, R.; Dormand, N.; Drewe, E.; Edgar, D.; Bagheri, Saghar; Egner, W.; Erber, W. N.; Erwood, M.; Everington, T.; Favier, R.; Firth, H.; Fletcher, D.; Flinter, F.; Fox, J. C.; Bakall, Benjamin; Frary, A.; Freson, K.; Furie, B.; Furnell, A.; Gale, D.; Gardham, A.; Gattens, M.; Ghali, N.; Scholl, Hendrik P.; Ghataorhe, P. K.; Ghurye, R.; Gibbs, S.; Gilmour, K.; Gissen, P.; Goddard, S.; Gomez, K.; Gordins, P.; Raymond, F. Lucy; Gräf, S.; Greene, D.; Greenhalgh, A.; Greinacher, A.; Grigoriadou, S.; Grozeva, D.; Hackett, S.; Hadinnapola, C.; Hague, R.; Toomes, Carmel; Haimel, M.; Halmagyi, C.; Hammerton, T.; Hart, D.; Hayman, G.; Heemskerk, J. W. M.; Henderson, R.; Hensiek, A.; Henskens, Y.; Herwadkar, A.; Holden, S.; Holder, M.; Holder, S.; Hu, F.; Huissoon, A.; Humbert, M.; Pennesi, Mark E.; Hurst, J.; James, R.; Jolles, S.; Josifova, D.; Kazmi, R.; Keeling, D.; Kelleher, P.; Kelly, A. M.; Kennedy, F.; Kiely, D.; Kingston, N.; Koziell, A.; Krishnakumar, D.; Kuijpers, T. W.; Kumararatne, D.; Kurian, M.; Laffan,; Michaelides, Michel; Lambert,; Allen, H. L.; Lawrie, A.; Lear, S.; Lees, M.; Lentaigne, C.; Liesner, R.; Linger, R.; Longhurst, H.; Lorenzo, L.; Machado, R.; Mackenzie, R.; Maclaren, R.; Maher, E.; Maimaris, J.; Mangles, S.; Ali, Manir; Manson, A.; Mapeta, R.; Markus, H. S.; Martin, J.; Masati, L.; Mathias, M.; Matser,; Maw, A.; McDermott, E.; McJannet, C.; Meacham, S.; Meehan, S.; Megy, K.; Mehta, S.; Millar, C. M.; Moledina, S.; Morrell, N.; Mumford, A.; Murng, S.; Murphy, E.; Nejentsev, S.; Noorani, S.; Nurden, P.; Oksenhendler, E.; Ouwehand, W. H.; Papadia, S.; Park, S.-M.; Parker, A.; Pasi, J.; Patch, C.; Paterson, J.; Payne, J.; Peacock, A.; Peerlinck, K.; Penkett, C. J.; Pepke-Zaba, J.; Perry, D. J.; Pollock,; Polwarth, G.; Ponsford, M.; Qasim, W.; Poulter, James A.; Quinti, I.; Rankin, S.; Rankin, J.; Rehnstrom, K.; Reid, E.; Rhodes, C. J.; Richards, M.; Richardson, S.; Richter, A.; Roberts, I.; Rondina, M.; Rosser, E.; Roughley, C.; Rue-Albrecht, K.; Samarghitean, C.; Sanchis-Juan, A.; Moore, Anthony T.; Sandford, R.; Santra, S.; Sargur, R.; Savic, S.; Schulman, S.; Schulze, H.; Scott, R.; Scully, M.; Seneviratne, S.; Sewell, C.; Shamardina, O.; Shipley, D.; Simeoni, I.; Sivapalaratnam, S.; Smith, K.; Sohal, A.; Southgate, L.; Staines, S.; Staples, E.; Stauss, H.; Stein, P.; Stephens, J.; Stirrups, K.; Stock, S.; Suntharalingam, J.; Tait, R. C.; Talks, K.; Tan, Y.; Thachil, J.; Thaventhiran, J.; Thomas, E.; Thomas, M.; Thompson, D.; Thrasher, A.; Tischkowitz, M.; Titterton, C.; Toh, C.-H.; Toshner, M.; Treacy, C.; Trembath, R.; Tuna, S.; Turek, W.; Turro, E.; Van Geet, C.; Veltman, M.; Inglehearn, Chris F.; Vogt, J.; Vonk Noordegraaf, A.; Wakeling, E.; Wanjiku, I.; Warner, T. Q.; Wassmer, E.; Watkins, H.; Webster, Andrew R.; Black, G.; Hall, G.; Ingram, S.; Taylor, R.; Ramsden, S.; Manson, F.; Sergouniotis, P.; Hardcastle, A.; Plagnol,; Cheetham, M.; Fiorentino, A.; Pontikos, N.; Bhattacharya, S.; Lord, E.; Nemeth, A.; Downes, S.; Halford, S.; Lise, S.; Heyningen, Van

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Association for Research in Vision and Ophthalmology, Investigative Ophthalmology & Visual Science, 7(58), p. 2906, 2017

DOI: 10.1167/iovs.16-20608

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Specific alleles of CLN7/MFSD8, a protein that localizes to photoreceptor synaptic terminals, cause a spectrum of nonsyndromic retinal dystrophy

Journal article published in 2017 by A. R. Webster, J. von Ziegenweldt, S. Welch, S. Westbury, J. Wharton, D. Whitehorn, M. Wilkins, L. Willcocks, C. Williamson, G. Woods, J. Wort, N. Yeatman, P. Yong, T. Young, P. Yu and other authors.

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Specific alleles of CLN7/MFSD8, a protein that localizes to photoreceptor synaptic terminals, cause a spectrum of nonsyndromic retinal dystrophy