Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
Resource Type
Article
Authors
McDonagh, Ellen M ; Rueda, Antonio ; Polychronopoulos, Dimitris ; Chan, Georgia ; Angus-Leppan, Heather ; Bhatia, Kailash P ; Davison, James E ; Festenstein, Richard ; Fratta, Pietro ; Giunti, Paola ; Howard, Robin ; Venkata, Laxmi ; Laurá, Matilde ; McEntagart, Meriel ; Menzies, Lara ; Morris, Huw ; Reilly, Mary M ; Robinson, Robert ; Rosser, Elisabeth ; Faravelli, Francesca ; Schrag, Anette ; Schott, Jonathan M ; Warner, Thomas T ; Wood, Nicholas W ; Bourn, David ; Eggleton, Kelly ; Labrum, Robyn ; Twiss, Philip ; Abbs, Stephen ; Santos, Liana ; Almheiri, Ghareesa ; Sheikh, Isabella ; Vandrovcova, Jana ; Patch, Christine ; Taylor Tavares, Ana Lisa ; Hyder, Zerin ; Need, Anna ; Brittain, Helen ; Baple, Emma ; Moutsianas, Loukas ; Deshpande, Viraj ; Perry, Denise L ; Ajay, Subramanian S. ; Chawla, Aditi ; Rajan, Vani ; Oprych, Kathryn ; Chinnery, Patrick F ; Douglas, Angela ; Wilson, Gill ; Ellard, Sian ; Temple, I Karen ; Mumford, Andrew ; McMullan, Dom ; Naresh, Kikkeri ; Flinter, Frances A ; Taylor, Jenny C ; Greenhalgh, Lynn ; Newman, William ; Brennan, Paul ; Sayer, John A ; Raymond, F Lucy ; Chitty, Lyn S ; Ambrose, John C. ; Arumugam, Prabhu ; Bleda, Marta ; Boardman-Pretty, Freya ; Boissiere, Jeanne M. ; Boustred, Christopher R. ; Craig, Clare E.H. ; de Burca, Anna ; Devereau, Andrew ; Elgar, Greg ; Foulger, Rebecca E. ; Furió-Tarí, Pedro ; Hackett, Joanne ; Halai, Dina ; Hamblin, Angela ; Henderson, Shirley ; Holman, James ; Hubbard, Tim J.P. ; Jackson, Rob ; Jones, Louise J. ; Kayikci, Melis ; Lahnstein, Lea ; Lawson, Kay ; Leigh, Sarah E.A. ; Leong, Ivonne U.S. ; Lopez, Javier F. ; Maleady-Crowe, Fiona ; Mason, Joanne ; Mueller, Michael ; Murugaesu, Nirupa ; Odhams, Chris A. ; Perez-Gil, Daniel ; Pullinger, John ; Rahim, Tahrima ; Riesgo-Ferreiro, Pablo ; Rogers, Tim ; Ryten, Mina ; Savage, Kevin ; Sawant, Kushmita ; Siddiq, Afshan ; Sieghart, Alexander ; Smedley, Damian ; Sosinsky, Alona ; Spooner, William ; Stevens, Helen E. ; Stuckey, Alexander ; Sultana, Razvan ; Thompson, Simon R. ; Tregidgo, Carolyn ; Walsh, Emma ; Watters, Sarah A. ; Welland, Matthew J. ; Williams, Eleanor ; Witkowska, Katarzyna ; Wood, Suzanne M. ; Zarowiecki, Magdalena ; Ibañez, Kristina ; Polke, James ; Hagelstrom, R Tanner ; Dolzhenko, Egor ; Pasko, Dorota ; Thomas, Ellen Rachel Amy ; Daugherty, Louise C ; Kasperaviciute, Dalia ; Smith, Katherine R ; Deans, Zandra C ; Hill, Sue ; Fowler, Tom ; Scott, Richard H ; Hardy, John ; Houlden, Henry ; Rendon, Augusto ; Caulfield, Mark J ; Eberle, Michael A ; Taft, Ryan J ; Tucci, Arianna
Source
In The Lancet Neurology March 2022 21(3):234-245
Subject
Primary Research Articles
Language
ISSN
1474-4422