{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T00:35:47Z","timestamp":1793406947554,"version":"4.5.0"},"reference-count":71,"publisher":"BMJ","issue":"3","license":[{"start":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T00:00:00Z","timestamp":1727654400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010269","name":"The Wellcome Trust","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"crossref"}]},{"name":"MRC UK"},{"DOI":"10.13039\/100000864","name":"Michael J. 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Commonalities in clinical presentation, overarching diagnostic features and similarities in the approach to genetic testing justify considering these disorders collectively based on their unifying causative mechanism. In this review, we discuss the characteristics and diagnostic challenges of repeat expansion disorders for the neurologist and provide examples to highlight their clinical heterogeneity. With the ready availability of clinical-grade whole-genome sequencing for molecular diagnosis, we discuss the current approaches to testing for repeat expansion disorders and application in clinical practice.<\/jats:p>","DOI":"10.1136\/pn-2023-003938","type":"journal-article","created":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T13:20:20Z","timestamp":1727702420000},"page":"204-216","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":35,"title":["Repeat expansion disorders"],"prefix":"10.1136","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6668-7202","authenticated-orcid":false,"given":"Zhongbo","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Clinical and Movement Neuroscience, University College London Queen Square Institute of Neurology, London, UK"},{"name":"The Francis Crick Institute, London, 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