{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T17:17:55Z","timestamp":1783012675497,"version":"3.54.6"},"reference-count":13,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T00:00:00Z","timestamp":1774224000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T00:00:00Z","timestamp":1774224000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100006645","name":"Children's Wisconsin","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006645","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UL1TR002003"],"award-info":[{"award-number":["UL1TR002003"]}],"id":[{"id":"10.13039\/100000002","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":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Genetic testing using targeted panels or comprehensive genome sequencing is the current standard for diagnosing Duchenne muscular dystrophy (DMD), identifying pathogenic variants in up to 98% of cases. We report a 5\u2010year\u2010old male presenting with delayed motor milestones, frequent falls, and difficulty climbing stairs due to generalized muscle weakness. Laboratory studies revealed markedly elevated CK (13,041\u2009U\/L) and chronic transaminase elevation. Clinical examination demonstrated Gower's sign, calf pseudohypertrophy, neuromuscular scoliosis, and cognitive impairment. Initial neuromuscular gene panel testing identified several variants of uncertain significance, and muscle biopsy showed markedly reduced dystrophin labeling. Follow\u2010up short\u2010read DMD sequencing with deletion\/duplication analysis at Age 11 remained negative. Given persistently negative findings, we utilized optical genome mapping (Bionano Genomics) and long\u2010read sequencing (Oxford Nanopore Technologies) to identify potential structural variants. Both methods independently detected a novel inversion identified to span 31\u2009kb and encompassing exons 68\u201373 of the\n                    <jats:italic>DMD gene<\/jats:italic>\n                    (ChrX: 31,171,362\u201331,202,982), classified as pathogenic. This case highlights a clinically definitive diagnosis of DMD missed by standard genetic testing. Our findings demonstrate that Optical Genome Mapping and Long\u2010Read Sequencing provide complementary, high\u2010resolution tools for identifying previously unidentified structural variants and should be considered in unresolved cases prior to invasive procedures such as muscle biopsy.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70133","type":"journal-article","created":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T11:19:33Z","timestamp":1774264773000},"page":"1874-1878","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Optical Genome Mapping and Long\u2010Read Sequencing Identifies a Novel Dystrophin Gene Inversion in a Patient With Duchenne Muscular Dystrophy"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-3852-9715","authenticated-orcid":false,"given":"Ryan","family":"Gallagher","sequence":"first","affiliation":[{"name":"Department of Pediatrics Medical College of Wisconsin and Children's Wisconsin  Milwaukee Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexya","family":"Aguilera","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics, Department of Pediatrics University of Illinois\u2010Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara Acosta","family":"Villarreal","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics, Department of Pediatrics University of Illinois\u2010Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Zalan","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics, Department of Pediatrics University of Illinois\u2010Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jared","family":"Tomei","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Medical College of Wisconsin and Children's Wisconsin  Milwaukee Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dima","family":"Alghazzy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Medical College of Wisconsin and Children's Wisconsin  Milwaukee Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Medical College of Wisconsin and Children's Wisconsin  Milwaukee Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nykula","family":"Slack","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Medical College of Wisconsin and Children's Wisconsin  Milwaukee Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Matter","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Medical College of Wisconsin and Children's Wisconsin  Milwaukee Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Broeckel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Medical College of Wisconsin and Children's Wisconsin  Milwaukee Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Giampietro","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics, Department of Pediatrics University of Illinois\u2010Chicago  Chicago Illinois 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