{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T15:51:57Z","timestamp":1791820317192,"version":"4.3.4"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,10,30]],"date-time":"2019-10-30T00:00:00Z","timestamp":1572393600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Patients with dystonia are particularly appropriate for diagnostic exome sequencing (DES), due to the complex, diverse features and genetic heterogeneity. Personal and family history data were collected from test requisition forms and medical records from 189 patients with reported dystonia and available family members received for clinical DES. Of them, 20.2% patients had a positive genetic finding associated with dystonia. Detection rates for cases with isolated and combined dystonia were 22.4% and 25.0%, respectively. 71.4% of the cohort had co\u2010occurring non\u2010movement\u2010related findings and a detection rate of 24.4%. Patients with childhood\u2010onset dystonia trended toward higher detection rates (31.8%) compared to infancy (23.6%), adolescence (12.5%), and early\u2010adulthood onset (16%). Uncharacterized gene findings were found in 6.7% (8\/119) of cases that underwent analysis for genes without an established disease relationship. Patients with intellectual disability\/developmental delay, seizures\/epilepsy and\/or multifocal dystonia were more likely to have positive findings (\n                    <jats:italic>P<\/jats:italic>\n                    = .0093, .0397, .0006). Four (2.1%) patients had findings in two genes, and seven (3.7%) had reclassification after the original report due to new literature, new clinical information or reanalysis request. Pediatric patients were more likely to have positive findings (\n                    <jats:italic>P<\/jats:italic>\n                    = .0180). Our observations show utility of family\u2010based DES in patients with dystonia and illustrate the complexity of testing.\n                  <\/jats:p>","DOI":"10.1111\/cge.13657","type":"journal-article","created":{"date-parts":[[2019,10,19]],"date-time":"2019-10-19T07:54:45Z","timestamp":1571471685000},"page":"305-311","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1347-4358","authenticated-orcid":false,"given":"Z\u00f6e","family":"Powis","sequence":"first","affiliation":[{"name":"Department of Clinical Research Affairs Ambry Genetics  Aliso Viejo California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9460-2368","authenticated-orcid":false,"given":"Meghan C.","family":"Towne","sequence":"additional","affiliation":[{"name":"Department of Clinical Research Affairs Ambry Genetics  Aliso Viejo California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1173-052X","authenticated-orcid":false,"given":"Kelly D.F.","family":"Hagman","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Ambry Genetics  Aliso Viejo California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsten","family":"Blanco","sequence":"additional","affiliation":[{"name":"Department of Clinical Research Affairs Ambry Genetics  Aliso Viejo California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8507-0918","authenticated-orcid":false,"given":"Erika","family":"Palmaer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Ambry Genetics  Aliso Viejo California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Castro","sequence":"additional","affiliation":[{"name":"Department of Genetic Specialists Ambry Genetics  Aliso Viejo California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samin A.","family":"Sajan","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Ambry Genetics  Aliso Viejo California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly","family":"Radtke","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Ambry Genetics  Aliso Viejo California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy J.","family":"Feyma","sequence":"additional","affiliation":[{"name":"Department of Neurology Gillette Children's Specialty Healthcare  St Paul Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kali","family":"Juliette","sequence":"additional","affiliation":[{"name":"Department of Neurology Gillette Children's Specialty Healthcare  St Paul Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sha","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Ambry Genetics  Aliso Viejo California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christos","family":"Sidiropoulos","sequence":"additional","affiliation":[{"name":"Department of Neurology and Ophthalmology Michigan State University  East Lansing 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