{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T17:29:15Z","timestamp":1791912555085,"version":"4.3.4"},"reference-count":38,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T00:00:00Z","timestamp":1770249600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","award":["536105452"],"award-info":[{"award-number":["536105452"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008440","name":"International Parkinson and Movement Disorder Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K08NS123552"],"award-info":[{"award-number":["K08NS123552"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["1U54NS148312"],"award-info":[{"award-number":["1U54NS148312"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017026","name":"Spastic Paraplegia Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017026","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Lilly & Blair Foundation"},{"DOI":"10.13039\/100010170","name":"New England Epilepsy Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010170","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006823","name":"Boston Children\u2019s Hospital Translational Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006823","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,10,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Childhood-onset movement disorders are clinically and genetically heterogeneous, with over 500 implicated genes. Standard clinical genetic testing, including exome sequencing, has limited sensitivity for certain variants, including repeat expansions, structural variants, copy number variants and deep intronic changes. We evaluated the diagnostic utility of short-read whole-genome sequencing (srWGS) and, in selected cases, long-read whole-genome sequencing (lrWGS) in a real-world cohort of children and young adults with early-onset progressive movement disorders and prior non-diagnostic genetic testing.<\/jats:p>\n                  <jats:p>One hundred individuals (&amp;lt;30 years) with progressive movement disorders with a suspected genetic aetiology were recruited from a tertiary paediatric movement disorders programme. All had prior non-diagnostic testing. SrWGS was used to assess single nucleotide, copy number and structural variants, as well as repeat expansions; lrWGS was applied to select unsolved trios. Variants were reviewed by a multidisciplinary team using standard variant interpretation guidelines and phenotype correlation.<\/jats:p>\n                  <jats:p>A molecular diagnosis was achieved in 27% (27\/100) of cases, and candidate variants were identified in an additional 33% (33\/100). Among solved cases, 81.5% (22\/27) were identified from exome-level data, while 18.5% (5\/27) required genome-level analysis to detect variants such as repeat expansions in HTT and FXN, an intragenic duplication in MECP2, an Alu insertion in ATM and a deletion in FA2H. Genome-level analysis contributed an additional diagnostic yield of only 5% (5\/100). Notably, in 33.3% (9\/27) of solved cases, variants had been reported previously but not recognized as diagnostic. LrWGS of 14 unsolved trios did not yield additional diagnoses.<\/jats:p>\n                  <jats:p>SrWGS provided a modest incremental yield over exome sequencing in early-onset movement disorders, with most diagnoses achieved through reanalysis of exome-level data. Findings highlight the importance of iterative variant interpretation and the need for improved analytic pipelines to fully realize the potential of genome sequencing.<\/jats:p>","DOI":"10.1093\/brain\/awag050","type":"journal-article","created":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T12:45:19Z","timestamp":1770209119000},"page":"3404-3413","source":"Crossref","is-referenced-by-count":3,"title":["Diagnostic yield of genome sequencing in children with progressive movement disorders"],"prefix":"10.1093","volume":"149","author":[{"given":"Luca","family":"Schierbaum","sequence":"first","affiliation":[{"name":"Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02215 \u00a0","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrique","family":"Gonzalez Saez-Diez","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02215 \u00a0","place":["USA"]},{"name":"Medical Faculty, Heidelberg University , Heidelberg 69120 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Tam","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02215 \u00a0","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"Rong","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02215 \u00a0","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umar","family":"Zubair","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02215 \u00a0","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katerina","family":"Bernardi","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02215 \u00a0","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"Yang","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02215 \u00a0","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicente","family":"Quiroz","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02215 \u00a0","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zainab","family":"Zaman","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02215 \u00a0","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afshin","family":"Saffari","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02215 \u00a0","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siofra","family":"Carty","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02215 \u00a0","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Habibah A P","family":"Agianda","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02215 \u00a0","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9246-4184","authenticated-orcid":false,"given":"Sanda","family":"Alexandrescu","sequence":"additional","affiliation":[{"name":"Department of Pathology, Boston Children\u2019s Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Eichler","sequence":"additional","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail","family":"Sveden","sequence":"additional","affiliation":[{"name":"Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Chopra","sequence":"additional","affiliation":[{"name":"Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel G","family":"Calame","sequence":"additional","affiliation":[{"name":"Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine , Houston, TX 77030 ,","place":["USA"]},{"name":"Spastic Paraplegia\u2014Centers of Excellence Research Network (SP-CERN)\u2014RDCRC , Bethesda, MD 20824 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matt C","family":"Danzi","sequence":"additional","affiliation":[{"name":"Spastic Paraplegia\u2014Centers of Excellence Research Network (SP-CERN)\u2014RDCRC , Bethesda, MD 20824 ,","place":["USA"]},{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine , Miami, FL 33136 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8498-5235","authenticated-orcid":false,"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[{"name":"Spastic Paraplegia\u2014Centers of Excellence Research Network (SP-CERN)\u2014RDCRC , Bethesda, MD 20824 ,","place":["USA"]},{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine , Miami, FL 33136 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0026-4714","authenticated-orcid":false,"given":"Darius","family":"Ebrahimi-Fakhari","sequence":"additional","affiliation":[{"name":"Movement Disorders Program, Department of Neurology and F.M. 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