Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Graeme C M, Black"'
Autor:
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
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract The development of computational methods to assess pathogenicity of pre-messenger RNA splicing variants is critical for diagnosis of human disease. We assessed the capability of eight algorithms, and a consensus approach, to prioritize 249 v
Externí odkaz:
https://doaj.org/article/cff014b62747418fa2af4029a4e249c3
Autor:
Sarah J Garnai, Michelle L Brinkmeier, Ben Emery, Tomas S Aleman, Louise C Pyle, Biliana Veleva-Rotse, Robert A Sisk, Frank W Rozsa, Ayse Bilge Ozel, Jun Z Li, Sayoko E Moroi, Steven M Archer, Cheng-Mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James Eadie, Jill E Urquhart, Graeme C M Black, Mohammad I Othman, Michael Boehnke, Scot A Sullivan, Gregory L Skuta, Hemant S Pawar, Alexander E Katz, Laryssa A Huryn, Robert B Hufnagel, Genomic Ascertainment Cohort, Sally A Camper, Julia E Richards, Lev Prasov
Publikováno v:
PLoS Genetics, Vol 15, Iss 5, p e1008130 (2019)
Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error, and frequent association with angle closure glaucoma and vision loss. The condition constitu
Externí odkaz:
https://doaj.org/article/94bbb35e2ae74ac4ade880700b4d20c2
Publikováno v:
Eye.
Voretigene neparvovec (VN) is a gene therapeutic agent for treatment of retinal dystrophies caused by bi-allelic RPE65 mutations. We illustrate, both the benefits and pitfalls associated with ocular gene therapy in the same patient.Two eyes of one pa
Autor:
Selina Mcharg, Laura Booth, Rahat Perveen, Isabel Riba Garcia, Nicole Brace, Nadhim Bayatti, Panagiotis I. Sergouniotis, Alexander M. Phillips, Anthony J. Day, Graeme C. M. Black, Simon J. Clark, Andrew W. Dowsey, Richard D. Unwin, Paul N. Bishop
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Age-related macular degeneration (AMD) is a leading cause of visual loss. It has a strong genetic basis, and common haplotypes on chromosome (Chr) 1 (CFH Y402H variant) and on Chr10 (near HTRA1/ARMS2) contribute the most risk. Little is known about t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9974eae92af93fc4602c96f95d27da5f
http://livrepository.liverpool.ac.uk/3156385/1/547377_2_merged_1650304113.pdf
http://livrepository.liverpool.ac.uk/3156385/1/547377_2_merged_1650304113.pdf
Autor:
Galuh D. N. Astuti, L. Ingeborgh van den Born, M. Imran Khan, Christian P. Hamel, Béatrice Bocquet, Gaël Manes, Mathieu Quinodoz, Manir Ali, Carmel Toomes, Martin McKibbin, Mohammed E. El-Asrag, Lonneke Haer-Wigman, Chris F. Inglehearn, Graeme C. M. Black, Carel B. Hoyng, Frans P. M. Cremers, Susanne Roosing
Publikováno v:
Genes, Vol 9, Iss 1, p 21 (2018)
Inherited retinal diseases (IRDs) display an enormous genetic heterogeneity. Whole exome sequencing (WES) recently identified genes that were mutated in a small proportion of IRD cases. Consequently, finding a second case or family carrying pathogeni
Externí odkaz:
https://doaj.org/article/62888b7ff2e64a29baaef9fe89864e05
Autor:
Jamie M, Ellingford, Bradley, Horn, Christopher, Campbell, Gavin, Arno, Stephanie, Barton, Catriona, Tate, Sanjeev, Bhaskar, Panagiotis I, Sergouniotis, Rachel L, Taylor, Keren J, Carss, Lucy F L, Raymond, Michel, Michaelides, Simon C, Ramsden, Andrew R, Webster, Graeme C M, Black
Publikováno v:
Journal of Medical Genetics
Background Diagnostic use of gene panel next-generation sequencing (NGS) techniques is commonplace for individuals with inherited retinal dystrophies (IRDs), a highly genetically heterogeneous group of disorders. However, these techniques have often
Autor:
Luis Amaya, Jane L Ashworth, Robert A Avery, Jack Bartram, Shannon J Beres, Gil Binenbaum, Valérie Biousse, Eileen E Birch, Susmito Biswas, Graeme C M Black, Joanna Black, Richard J C Bowman, John A Bradbury, Michael C Brodsky, Donal Brosnahan, Alejandra de Alba, Jayne E Camuglia, Susan M Carden, Giovanni Castano, Ingele Casteels, Yvonne Chung, Michael P Clarke, David K Coats, Richard Collin, John Crompton, Emmett T Cunningham, Joseph L Demer, Hélène Dollfus, Peter J Dolman, Sean P Donahue, Clive Edelsten, Alistair R Fielder, David R. FitzPatrick, Anne B Fulton, Brenda L Gallie, Megan Geloneck, Clare E Gilbert, Christy Giligson, Glen A Gole, William V Good, John R B Grigg, Hans Grossniklaus, Patrick Hamel, Sheryl M Handler, Ronald M Hansen, Gena Heidary, Richard W Hertle, Göran Darius Hildebrand, Graham E Holder, Creig S Hoyt, G Baker Hubbard, Amy K Hutchinson, Saurabh Jain, Robyn V Jamieson, Hanne Jensen, Nadja Kadom, Ramesh Kekunnaya, Robert C Kersten, Philippe Kestelyn, Jan E E Keunen, Peng Tee Khaw, Chong Ae Kim, Jan Koopman, Stephen P Kraft, Burton J Kushner, Scott R Lambert, G Robert LaRoche, Dorte Ancher Larsen, Andrew G Lee, Barry Lee, Phoebe Lenhart, Alki Liasis, Grant T Liu, Christopher Lloyd, Christopher J Lyons, Carey A Matsuba, Caroline J MacEwen, Alan A McNab, Vaishali Mehta, Michel Michaelides, Daniel Mojon, Hans Ulrik, Anthony T Moore, Andrew A M Morris, Nancy J Newman, Ken K Nischal, Una O'Colmain, Anna R O'Connor, Michael O'Keefe, Scott E Olitsky, Luis H Ospina, Darren T Oystreck, Maria Papadopoulos, Sunju Park, Evelyn A Paysse, Jason H Peragallo, Erika Mota Pereira, Rachel F Pilling, Stacy Pineles, Venkatesh Prajna, Frank Antony Proudlock, Narman Puvanachandra, Anthony G Quinn, Graham E Quinn, Jugnoo S Rahi, Michael X Repka, Joshua Robinson, Buddy Russell, Luis Carlos Ferreira de Sá, Virender Sachdeva, Daniel J Salchow, Richard L Scawn, Nicoline Schalij-Delfos, Mary J van Schooneveld, Jay Self, Panagiotis I Sergouniotis, Carol L Shields, Jerry A Shields, John J Sloper, Martin P Snead, Sameh E Soliman, Timothy John Sullivan, C Gail Summers, Kimberley Tan, David S Taylor, Dorothy A Thompson, Elias I Traboulsi, Stephen J Tuft, Jimmy M Uddin, Perumalsamy Vijayalakshmi, Patrick Watts, David R Weakley, Jill Razor Wells
Publikováno v:
Taylor and Hoyt's Pediatric Ophthalmology and Strabismus ISBN: 9780702066160
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e71d0488d689f92ef71fc4f8ddd8ab0d
https://doi.org/10.1016/b978-0-7020-6616-0.00115-8
https://doi.org/10.1016/b978-0-7020-6616-0.00115-8
Autor:
Jamie M, Ellingford, Stephanie, Barton, Sanjeev, Bhaskar, James, O'Sullivan, Simon G, Williams, Janine A, Lamb, Binay, Panda, Panagiotis I, Sergouniotis, Rachel L, Gillespie, Stephen P, Daiger, Georgina, Hall, Theodora, Gale, I Christopher, Lloyd, Paul N, Bishop, Simon C, Ramsden, Graeme C M, Black
Publikováno v:
Journal of Medical Genetics
Background Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous set of disorders, for which diagnostic second-generation sequencing (next-generation sequencing, NGS) services have been developed worldwide. Methods We prese
Autor:
Nisha R Acharya, James F Acheson, Gillian G W Adams, John R Ainsworth, Alejandra de Alba Campomanes, Louise E Allen, Jane Louise Ashworth, Pinar Aydin, Valérie Biousse, Susmito Biswas, Graeme C M Black, Joanna Black, Thomas M Bosley, Richard J C Bowman, John A Bradbury, Michael C Brodsky, John L Brookes, Donal Brosnahan, J Raymond Buncic, Jayne E Camuglia, Susan M Carden, Ingele Casteels, Kara Cavuoto, Wilma Y Chang, Michael P Clarke, J Richard O Collin, John Crompton, Emmett T Cunningham, Kenneth K Dahn, Susan H Day, Hélène Dollfus, Gordon N Dutton, Clive Edelsten, James Elder, John S Elston, Alistair R Fielder, David R Fitzpatrick, Anne B Fulton, Peter J Francis, Douglas Frederick, Charlotte L Funnell, Brenda L Gallie, Megan M Geloneck, Clare E Gilbert, Glen A Gole, William V Good, Irene Gottlob, Philip G Griffiths, John R B Grigg, Christopher J Hammond, Nancy N Hanna, Georgina Hall, Ronald M Hansen, Yoshikazu Hatsukawa, Hugo W A Henderson, Richard W Hertle, Göran D Hildebrand, Melanie Hingorani, Peter Hodgkins, David A Hollander, Gerd S Holmström, Graham E Holder, Creig Hoyt, David G Hunter, Robyn V Jamieson, James E Jan, Saurabh Jain, Hanne Jensen, Rohit Jolly, Robert C Kersten, Phillippe Kestelyn, Peng T Khaw, Stephen P Kraft, Burton J Kushner, Robert A Kyle, Scott R Lambert, G Robert LaRoche, David Laws, Andrew G Lee, Alki Liasis, Christopher Lloyd, Christopher J Lyons, Caroline J MacEwen, D Luisa Mayer, Craig A McKeown, Stephen D McLeod, Michel Michaelides, Joel M Miller, Neil R Miller, Nor Fadhilah Mohamad, Hans Ulrik Møller, Anthony T Moore, Andrew Alan Myles Morris, Robert Morris, Anne Moskowitz, Nancy J Newman, Ken K Nischal, Hiroshi Nishikawa, Michael O’Keefe, Maria Papadopoulos, Manoj V Parulekar, Cameron F Parsa, Carlos E Pavesio, Derrick C Pau, Evelyn A Paysse, Erika Mota Pereira, Rachel Fiona Pilling, Venkatesh Prajna, Frank A Proudlock, Anthony Quinn, Graham E Quinn, Jugnoo S Rahi, Muralidhar Rajamani, M Ashwin Reddy, Michael X Repka, Bruce Richard, Jack Rootman, Isabelle M Russell-Eggitt, Tina Rutar, Luis Carlos Ferreira de Sá, Reecha Sachdeva, Mandeep Sagoo, Alison Salt, Alvina Pauline D Santiago, Richard L Scawn, Alan B Scott, Jay Self, Panagiotis Sergouniotis, Ankoor S Shah, Akbar Shakoor, Carol L Shields, Jerry A Shields, Ian Simmons, John J Sloper, Martin P Snead, Carlos R Souza-Dias, Jane C Sowden, Lynne Speedwell, Jay M Stewart, Yoshiko Sugiyama, Aileen Sy, Naomi Tan, David Taylor, Robert H Taylor, Dorothy A Thompson, Chris Timms, Elias I Traboulsi, Stephen John Tuft, Lawrence Tychsen, Jimmy M Uddin, Alain Verloes, Anthony J Vivian, Patrick Watts, David R Weakley, David Webb, James Edmond Wraith, Patrick Yu-Wai-Man
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::139e07e14c17c2d972d724f894a0f62b
https://doi.org/10.1016/b978-0-7020-4691-9.00130-8
https://doi.org/10.1016/b978-0-7020-4691-9.00130-8