Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Gavin Arno(Moorfields Eye Hospital NHS Foundation Trust), Keren Carss(NHS Blood and Transplant), Sarah Hull(Moorfields Eye Hospital NHS Foundation Trust), Ceniz Zihni(University College London), Anthony G. Robson(Moorfields Eye Hospital NHS Foundation Trust), Alessia Fiorentino(University College London), Graeme C. Black(University College London), Georgina Hall(Moorfields Eye Hospital), Stuart Ingram(University College London), Rachel Gillespie(University College London), Forbes Manson(Koret Foundation), Panagiotis I. Sergouniotis(University of Cambridge), Chris F. Inglehearn(University College London), Carmel Toomes(University College London), Manir Ali(Moorfields Eye Hospital), Martin McKibbin, James A. Poulter, Kamron N. Khan, Emma Lord, Andrea H. Németh, Susan M. Downes, Stephanie Halford, Jing Yu, Stefano Lise(University College London), Gavin Arno(Moorfields Eye Hospital NHS Foundation Trust), Alessia Fiorentino(University College London), Nikos Ponitkos, Vincent Plagnol(University College London), Michel Michaelides, Alison J. Hardcastle(University College London), Michael E. Cheetham(University College London), Andrew R. Webster(Moorfields Eye Hospital NHS Foundation Trust), Veronica van Heyningen, Alison J. Hardcastle(Moorfields Eye Hospital), Graham E. Holder(Moorfields Eye Hospital NHS Foundation Trust), Michael E. Cheetham(University College London), Vincent Plagnol(University College London), Timothy J. Aitman, Hana Alachkar(University College London), Sonia Ali(University College London), Louise Allen(Moorfields Eye Hospital), David Allsup, Gautum Ambegaonkar, Julie Anderson, Richard Antrobus(University College London), Ruth Armstrong, Gavin Arno(Moorfields Eye Hospital NHS Foundation Trust), Gururaj Arumugakani, Sofie Ashford, William F. Astle, Antony Attwood, Steve Austin(Moorfields Eye Hospital), Chiara Bacchelli, Tamam Bakchoul, Tadbir K. Bariana(University College London), Helen Baxendale, David A. Bennett, Claire Bethune, Shahnaz Bibi, Maria Bitner‐Glindzicz, Marta Bleda, Harm Boggard, Paula Bolton‐Maggs, Claire Booth, John R. Bradley(University College London), Angie Brady, Matthew A. Brown, Michael J. Browning, Christine Bryson, Siobhan O. Burns, Paul Calleja, Natalie Canham, Jenny Carmichael(University College London), Keren Carss(Cambridge University Hospitals NHS Foundation Trust), Mark J. Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick F. Chinnery, Manali Chitre(NHS Blood and Transplant), Colin Church, Emma Clement, Emma Clement, Virginia Clowes, Gerry Coghlan, Peter Collins, Nichola Cooper, Amanda Creaser-Myers, Rosa DaCosta, Louise C. Daugherty, Sophie Davies, John S. Davis, Minka De Vries, Patrick Deegan, Sri V. V. Deevi, Charu Deshpande, Lisa Devlin, Eleanor Dewhurst, Rainer Döffinger, Natalie Dormand, Elizabeth Drewe, David Edgar, William Egner, Wendy N. Erber, Marie Erwood, Tamara Everington, Rémi Favier, Helen V. Firth, Debra Fletcher, Frances Flinter, James C. Fox, Amy Frary, Kathleen Freson, Bruce Furie, Abigail Furnell, Daniel P. Gale, Alice Gardham, Michael Gattens, Neeti Ghali, Pavandeep Ghataorhe, Rohit Ghurye, Simon Gibbs, Kimberley Gilmour(University College London), Paul Gissen, Sarah Goddard, Keith Gomez, Pavel Gordins, Stefan Gräf, Daniel Greene, Alan Greenhalgh(Moorfields Eye Hospital), Andreas Greinacher, Sofia Grigoriadou, Detelina Grozeva, Scott Hackett, Charaka Hadinnapola, Rosie Hague, Matthias Haimel, Csaba Halmagyi, Tracey Hammerton, Daniel Hart, Grant Hayman, Johan W. M. Heemskerk, Robert Henderson, Anke Hensiek, Yvonne Henskens, Archana Herwadkar, Simon Holden, Muriel Holder, Susan Holder, Fengyuan Hu, Aarnoud Huissoon, Marc Humbert, Jane A. Hurst(Moorfields Eye Hospital), Roger James(Moorfields Eye Hospital), Stephen Jolles(Moorfields Eye Hospital), Dragana Josifova, 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, Michele P. Lambert, Hana Lango Allen, Allan Lawrie, Sara Lear, Melissa Lees(University College London), Claire Lentaigne, Ri Liesner, Rachel Linger, Hilary Longhurst(Moorfields Eye Hospital), Lorena Lorenzo, Rajiv D. Machado, A. R. MacKenzie(University College London), Robert E. MacLaren, Eamonn R. Maher, Jesmeen Maimaris, Sarah Mangles, Ania Manson(Moorfields Eye Hospital), Rutendo Mapeta, Hugh S. Markus, Jennifer M. Martin, Larahmie Masati(Moorfields Eye Hospital), Mary Mathias, Vera Matser, Anna Maw, Elizabeth McDermott, Coleen McJannet, Stuart Meacham, Sharon Meehan, Karyn Mégy, Sarju Mehta, Michel Michaelides, Carolyn M. Millar, Shahin Moledina, Anthony T. Moore(Moorfields Eye Hospital NHS Foundation Trust), Nicholas W. Morrell, Andrew Mumford, Sai Murng, Elaine Murphy, Sergey Nejentsev(Koret Foundation), Sadia Noorani, Paquita Nurden(Moorfields Eye Hospital), Eric Oksenhendler, Willem H. Ouwehand, Sofia Papadia, Soo‐Mi Park, Alasdair Parker, John Pasi, C. Patch, Joan Paterson, Jeanette Payne, Andrew J. Peacock, Kathelijne Peerlinck, Christopher J. Penkett, Joanna Pepke‐Żaba, David J. Perry, Val Pollock(Moorfields Eye Hospital), Gary Polwarth, Mark Ponsford, Waseem Qasim, Isabella Quinti, Stuart Rankin, Julia Rankin, F. Lucy Raymond(Cambridge University Hospitals NHS Foundation Trust), Karola Rehnström, Evan Reid, Christopher J. Rhodes, Michael Richards, Sylvia Richardson(University of Cambridge), Alex Richter, Irene Roberts, Matthew T. Rondina, Elisabeth Rosser(University College London), Catherine Roughley, Kévin Rue-Albrecht, Crina Samarghitean, Alba Sanchis‐Juan, Richard Sandford, Saikat Santra, Ravishankar Sargur, Sinisa Savic, Sol Schulman, Harald Schulze, Richard H. Scott, Marie Scully, Suranjith L. Seneviratne, Carrock Sewell, Olga Shamardina, Debbie Shipley, Ilenia Simeoni, Suthesh Sivapalaratnam, Kenneth G. C. Smith, Aman Sohal, Laura Southgate, Simon Staines, Emily Staples, Hans J. Stauss, Penelope E. Stein, Jonathan Stephens, Kathleen Stirrups, Sophie Stock, Jay Suntharalingam, R. Campbell Tait, Kate Talks, Yvonne Tan, Jecko Thachil, James Thaventhiran, Ellen Thomas, Moira Thomas, Dorothy Thompson, Adrian J. Thrasher, Marc Tischkowitz, Catherine Titterton, Cheng‐Hock Toh, Mark Toshner, Carmen Treacy, Richard C. Trembath, Salih Tuna, Wojciech Turek, Ernest Turro, Chris Van Geet, Marijke Veltman, Julie Vogt, Julie von Ziegenweldt, Anton Vonk Noordegraaf, Emma Wakeling, Ivy Wanjiku, Timothy Q. Warner, Evangeline Wassmer, Hugh Watkins, Andrew R. Webster(Moorfields Eye Hospital NHS Foundation Trust), Steve Welch, Sarah K. Westbury, John Wharton, Deborah Whitehorn, Martin R. Wilkins(Moorfields Eye Hospital), Lisa Willcocks, Catherine Williamson(Moorfields Eye Hospital), Geoffrey Woods, John Wort, Nigel Yeatman, Patrick Yong, Tim Young, Ping Yu, Anthony T. Moore(Moorfields Eye Hospital NHS Foundation Trust), F. Lucy Raymond(Cambridge University Hospitals NHS Foundation Trust), Karl Matter(University College London), María S. Balda(University College London), Andrew R. Webster(Moorfields Eye Hospital NHS Foundation Trust)
The American Journal of Human Genetics
January 26, 2017
Cited by 36Open Access
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