Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss(NHS Blood and Transplant), Gavin Arno(Moorfields Eye Hospital NHS Foundation Trust), Marie Erwood(NHS Blood and Transplant), Jonathan Stephens(NHS Blood and Transplant), Alba Sanchis-Juan(NHS Blood and Transplant), Sarah Hull(Moorfields Eye Hospital NHS Foundation Trust), Karyn Mégy(NHS Blood and Transplant), Detelina Grozeva(University of Cambridge), Eleanor Dewhurst(NHS Blood and Transplant), Samantha Malka(Moorfields Eye Hospital NHS Foundation Trust), Vincent Plagnol(University College London), Christopher J. Penkett(NHS Blood and Transplant), Kathleen Stirrups(NHS Blood and Transplant), Roberta Rizzo(Moorfields Eye Hospital), Genevieve Wright(Moorfields Eye Hospital), Dragana Josifova(Guy's Hospital), Maria Bitner‐Glindzicz(Great Ormond Street Hospital), Richard H. Scott(Great Ormond Street Hospital), Emma Clement(Great Ormond Street Hospital), Louise Allen(Cambridge University Hospitals NHS Foundation Trust), Ruth Armstrong(Cambridge University Hospitals NHS Foundation Trust), Angela F. Brady(London North West Healthcare NHS Trust), Jenny Carmichael(Cambridge University Hospitals NHS Foundation Trust), Manali Chitre(Cambridge University Hospitals NHS Foundation Trust), Robert Henderson(Great Ormond Street Hospital), Jane A. Hurst(Great Ormond Street Hospital), Robert E. MacLaren(Cambridge University Hospitals NHS Foundation Trust), Elaine Murphy(Cambridge University Hospitals NHS Foundation Trust), Joan Paterson(Cambridge University Hospitals NHS Foundation Trust), Elisabeth Rosser(Great Ormond Street Hospital), Dorothy Thompson(Great Ormond Street Hospital), Emma Wakeling(London North West Healthcare NHS Trust), Willem H. Ouwehand(NHS Blood and Transplant), Michel Michaelides(Moorfields Eye Hospital NHS Foundation Trust), Anthony T. Moore(Moorfields Eye Hospital NHS Foundation Trust), Andrew R. Webster(Moorfields Eye Hospital NHS Foundation Trust), F. Lucy Raymond(University of Cambridge), Timothy J. Aitman, Hana Alachkar, Sonia Ali(Cambridge University Hospitals NHS Foundation Trust), Louise Allen(Cambridge University Hospitals NHS Foundation Trust), David Allsup, Gautum Ambegaonkar, Julie Anderson, Richard Antrobus(Great Ormond Street Hospital), Ruth Armstrong(Cambridge University Hospitals NHS Foundation Trust), Gavin Arno(Moorfields Eye Hospital NHS Foundation Trust), Gururaj Arumugakani, Sofie Ashford, William F. Astle, Antony Attwood, Steve Austin, Chiara Bacchelli, Tamam Bakchoul, Tadbir K. Bariana, Helen Baxendale, David Bennett, Claire Bethune, Shahnaz Bibi, Maria Bitner‐Glindzicz(Great Ormond Street Hospital), Marta Bleda, Harm Boggard(Cambridge University Hospitals NHS Foundation Trust), Paula Bolton‐Maggs, Claire Booth, John R. Bradley, Angie Brady(London North West Healthcare NHS Trust), Matthew A. Brown, Michael J. Browning(Cambridge University Hospitals NHS Foundation Trust), Christine Bryson, Siobhan O. Burns, Paul Calleja, Natalie Canham, Jenny Carmichael(Cambridge University Hospitals NHS Foundation Trust), Keren Carss(NHS Blood and Transplant), Mark J. Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick F. Chinnery, Manali Chitre(Cambridge University Hospitals NHS Foundation Trust), Colin Church, Emma Clement(Great Ormond Street Hospital), Emma Clement, Virginia Clowes, Gerry Coghlan, Peter Collins, Nichola Cooper, Amanda Creaser-Myers, Rosa DaCosta, Louise C. Daugherty(Cambridge University Hospitals NHS Foundation Trust), Sophie Davies, John S. Davis, Minka De Vries, Patrick Deegan, Sri V. V. Deevi, Charu Deshpande, Lisa Devlin(Great Ormond Street Hospital), Eleanor Dewhurst(NHS Blood and Transplant), Rainer Döffinger, Natalie Dormand, Elizabeth Drewe, David Edgar, William Egner, Wendy N. Erber, Marie Erwood(NHS Blood and Transplant), Tamara Everington, Rémi Favier, Helen V. Firth, Debra Fletcher, Frances Flinter, James C. Fox, Amy Frary, Kathleen Freson(NHS Blood and Transplant), Bruce Furie, Abigail Furnell, Daniel P. Gale, Alice Gardham, Michael Gattens(Cambridge University Hospitals NHS Foundation Trust), Neeti Ghali, Pavandeep Ghataorhe, Rohit Ghurye, Simon Gibbs, Kimberley Gilmour, Paul Gissen, Sarah Goddard(Moorfields Eye Hospital), Keith Gomez, Pavel Gordins, Stefan Ting Graf, Daniel Greene, Alan Greenhalgh, Andreas Greinacher, Sofia Grigoriadou, Detelina Grozeva(University of Cambridge), Scott Hackett(Great Ormond Street Hospital), Charaka Hadinnapola, Rosie Hague, Matthias Haimel, Csaba Halmagyi, Tracey Hammerton, Daniel P. Hart, Grant Hayman, Johan W. M. Heemskerk, Robert Henderson(Great Ormond Street Hospital), Anke Hensiek, Yvonne Henskens, Archana Herwadkar, Simon Holden, Muriel Holder, Susan Holder, Fengyuan Hu(Great Ormond Street Hospital), Aarnoud Huissoon, Marc Humbert, Jane A. Hurst(Great Ormond Street Hospital), Roger James, Stephen Jolles(NHS Blood and Transplant), Dragana Josifova(Guy's Hospital), Rashid Kazmi, David Keeling, Peter Kelleher, Anne M. Kelly, Fiona Kennedy, David G. Kiely, Nathalie Kingston, Ania Koziell, Deepa Krishnakumar, Taco W. Kuijpers, Dinakantha Kumararatne, Manju A. Kurian, Michael Laffan(Cambridge University Hospitals NHS Foundation Trust), Michele P. Lambert, Hana Lango Allen(Cambridge University Hospitals NHS Foundation Trust), Allan Lawrie, Sara Lear(Moorfields Eye Hospital), Melissa Lees, Claire Lentaigne, Ri Liesner(Great Ormond Street Hospital), Rachel Linger, Hilary Longhurst, Lorena Lorenzo, Rajiv D. Machado, A. R. MacKenzie(Cambridge University Hospitals NHS Foundation Trust), Robert E. MacLaren(Cambridge University Hospitals NHS Foundation Trust), Eamonn R. Maher, Jesmeen Maimaris, Sarah Mangles(Moorfields Eye Hospital), Ania Manson, Rutendo Mapeta, Hugh S. Markus, Jennifer C. Martin, Larahmie Masati, Mary Mathias, Vera Matser, Anna Maw(London North West Healthcare NHS Trust), Elizabeth McDermott, Coleen McJannet, Stuart Meacham, Sharon Meehan, Karyn Mégy(NHS Blood and Transplant), Sarju Mehta, Michel Michaelides(Moorfields Eye Hospital NHS Foundation Trust), Carolyn M. Millar, Shahin Moledina, Anthony T. Moore(Moorfields Eye Hospital NHS Foundation Trust), Nicholas W. Morrell, Andrew Mumford(Cambridge University Hospitals NHS Foundation Trust), Sai Murng, Elaine Murphy(Cambridge University Hospitals NHS Foundation Trust), Sergey Nejentsev, Sadia Noorani, Paquita Nurden, Eric Oksenhendler, Willem H. Ouwehand(NHS Blood and Transplant), Sofia Papadia, Soo‐Mi Park, Alasdair Parker, John Pasi, Christine Patch(NHS Blood and Transplant), Joan Paterson(Cambridge University Hospitals NHS Foundation Trust), Jeanette Payne, Andrew J. Peacock(Cambridge University Hospitals NHS Foundation Trust), Kathelijne Peerlinck, Christopher J. Penkett(NHS Blood and Transplant), Joanna Pepke‐Żaba, David J. Perry, Val Pollock, Gary Polwarth, Mark Ponsford, Waseem Qasim, Isabella Quinti, Stuart Rankin, Julia Rankin, F. Lucy Raymond(University of Cambridge), Karola Rehnström, Evan Reid, Christopher J. Rhodes, Michael Richards(Cambridge University Hospitals NHS Foundation Trust), Sylvia Richardson, Alex Richter, Irene Roberts, Matthew T. Rondina, Elisabeth Rosser(Great Ormond Street Hospital), Catherine Roughley, Kévin Rue-Albrecht, Crina Samarghitean, Alba Sanchis-Juan(NHS Blood and Transplant), Richard Sandford(Great Ormond Street Hospital), Saikat Santra, Ravishankar Sargur, Sinisa Savic, Sol Schulman, Harald Schulze, Richard H. Scott(Great Ormond Street Hospital), Marie Scully(NHS Blood and Transplant), Suranjith L. Seneviratne, Carrock Sewell, Olga Shamardina, Debbie Shipley, Ilenia Simeoni, Suthesh Sivapalaratnam, Kenneth G. C. Smith, Aman Sohal(Moorfields Eye Hospital), Laura Southgate, Simon Staines, Emily Staples, Hans J. Stauss(NHS Blood and Transplant), Penelope E. Stein, Jonathan Stephens(NHS Blood and Transplant), Kathleen Stirrups(NHS Blood and Transplant), Sophie Stock, Jay Suntharalingam, R. Campbell Tait, Kate Talks, Yvonne Tan, Jecko Thachil, James Thaventhiran, Ellen Thomas, Moira Thomas, Dorothy Thompson(Great Ormond Street Hospital), Adrian J. Thrasher, Marc Tischkowitz, Catherine Titterton, Cheng‐Hock Toh, Mark Toshner, Carmen Treacy, Richard C. Trembath(Great Ormond Street Hospital), Salih Tuna, Wojciech Turek, Ernest Turro, Chris Van Geet(NHS Blood and Transplant), Marijke Veltman, Julie Vogt, Julie von Ziegenweldt, Anton Vonk Noordegraaf, Emma Wakeling(London North West Healthcare NHS Trust), Ivy Wanjiku, Timothy Q. Warner, Evangeline Wassmer, Hugh Watkins, Andrew R. Webster(Moorfields Eye Hospital NHS Foundation Trust), Steve Welch, Sarah K. Westbury(Moorfields Eye Hospital), John Wharton, Deborah Whitehorn, Martin Wilkins, Lisa Willcocks(Great Ormond Street Hospital), Catherine Williamson, Geoffrey Woods, John Wort, Nigel Yeatman, Patrick Yong, Timothy M. Young, Ping Yu
The American Journal of Human Genetics
December 29, 2016
Cited by 481Open Access
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