Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
Titel:
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
Auteur:
IbaƱez, 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
Verschenen in:
The lancet neurology
Paginering:
Jaargang 21 () nr. 3 pagina's 234-245
Jaar:
2022
Inhoud:
Uitgever:
The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license