Advancing the diagnosis of repeat expansion disorders

Affiliations

¹ Bruce Lefroy Centre of Genetic Health, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia. Electronic address: paul.lockhart@mcri.edu.au.

Comment

Paul J Lockhart. Lancet Neurol. 2022 Mar.

. 2022 Mar;21(3):205-207.

doi: 10.1016/S1474-4422(22)00033-3.

¹ Bruce Lefroy Centre of Genetic Health, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia. Electronic address: paul.lockhart@mcri.edu.au.

No abstract available

Comment on

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.