학술논문
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
Document Type
Article
Author
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
Language
ISSN
1474-4422