Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Author:

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,Chinnery Patrick F,Houlden Henry,Rendon Augusto,Caulfield Mark J,Eberle Michael A,Taft Ryan J,Tucci Arianna,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,Polychronopoulos Dimitris,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

Publisher

Elsevier BV

Subject

Neurology (clinical)

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