{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T17:40:51Z","timestamp":1767634851336,"version":"3.48.0"},"reference-count":31,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T00:00:00Z","timestamp":1757548800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["CNCDP\u2010K12"],"award-info":[{"award-number":["CNCDP\u2010K12"]}],"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":["K12NS098482"],"award-info":[{"award-number":["K12NS098482"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001454","name":"American Epilepsy Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001454","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Long\u2010read sequencing can identify disease\u2010causing variants that are missed by short\u2010read sequencing. Here, we report the use of Oxford Nanopore Technology long\u2010read sequencing to resolve a complex translocation\u2010inversion involving the\n                    <jats:italic>ARID1B<\/jats:italic>\n                    gene in a 5\u2010year\u2010old male with a history of febrile seizures, intractable epilepsy, epileptic encephalopathy, and speech delay. Prior clinical genetic testing included a karyotype with a t(6;11)(q25.3;q22.3) apparently balanced translocation and a chromosomal microarray with a 1.48\u2009Mb interstitial deletion within 4p13 that were both deemed not clinically significant, normal fragile X and Prader\u2010Willi\/Angelman DNA assays, and no significant findings on epilepsy or neurotransmitter disorders gene panels. Extensive metabolic testing was also negative. The patient was enrolled in the University of North Carolina (UNC) Genetic Determinants of Neurological and Developmental Disorders (GDNDD) study. Research short\u2010read genome single nucleotide and structural variant analysis was negative. Subsequent identification by long\u2010read sequencing that the translocation interrupted the\n                    <jats:italic>ARID1B<\/jats:italic>\n                    gene highlights the use of long\u2010read sequencing to identify and resolve complex rearrangements underlying genetic disorders and may be valuable in determining the pathogenicity of unexplained balanced translocations for other genetic disorders.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64249","type":"journal-article","created":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T10:14:20Z","timestamp":1757585660000},"page":"426-431","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Long\u2010Read Sequencing of a Neurodevelopmental Disorder Patient Reveals Complex Rearrangement Involving the\n                    <scp>\n                      <i>ARID1B<\/i>\n                    <\/scp>\n                    Gene"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1137-8992","authenticated-orcid":false,"given":"Tam P.","family":"Sneddon","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of North Carolina  Chapel Hill North Carolina USA"},{"name":"Department of Genetics University of North Carolina  Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Scott A.","family":"Melville","sequence":"additional","affiliation":[{"name":"Department of Genetics University of North Carolina  Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mai","family":"Xiong","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of North Carolina  Chapel Hill North Carolina 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North Carolina  Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Berglind","sequence":"additional","affiliation":[{"name":"Department of Genetics University of North Carolina  Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin L.","family":"Heinzen","sequence":"additional","affiliation":[{"name":"Department of Genetics University of North Carolina  Chapel Hill North Carolina USA"},{"name":"Division of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy University of North Carolina  Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matt L.","family":"Tedder","sequence":"additional","affiliation":[{"name":"Diagnostic Laboratories Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muge","family":"Gucsavas\u2010Calikoglu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Metabolism University of North Carolina  Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yael","family":"Shiloh\u2010Malawsky","sequence":"additional","affiliation":[{"name":"Department of Neurology University of North Carolina  Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zheng (Jane)","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Neurology University of North Carolina  Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bradford C.","family":"Powell","sequence":"additional","affiliation":[{"name":"Department of Genetics University of North Carolina  Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3655-0560","authenticated-orcid":false,"given":"Senyene E.","family":"Hunter","sequence":"additional","affiliation":[{"name":"Department of Neurology University of North Carolina  Chapel Hill North Carolina 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