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

Authors: Kristina Ibáñez, James M. Polke, R. Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Thomas, Louise C. Daugherty, Dalia Kasperavičiūtė, Katherine R. Smith, WGS for Neurological Diseases Group, ., Zandra C. Deans, Sue Hill, Tom Fowler, Richard H. Scott, John Hardy, Patrick F. Chinnery, Henry Houlden, Augusto Rendon, Mark J. Caulfield, Michael A. Eberle, Ryan J. Taft, Arianna Tucci, Genomics England Research Consortium, . - University College London 2022 cited by 140