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In an all-in-one nanopore sequencing analysis DNA hypomethylation of the\n                    <jats:italic>SNURF<\/jats:italic>\n                    :TSS-DMR, known contributing deletions on the maternal allele and point mutations in\n                    <jats:italic>UBE3A<\/jats:italic>\n                    could be ruled out as disease drivers. In contrast, breakpoints and orientation of the tandem duplication could clearly be defined. Segregation analysis in the family showed that the duplication derived de novo in the maternal grandfather. Our study shows the benefits of an all-in-one nanopore sequencing approach for the diagnostics of Angelman syndrome and other imprinting disorders.\n                  <\/jats:p>","DOI":"10.1186\/s13148-024-01711-0","type":"journal-article","created":{"date-parts":[[2024,8,2]],"date-time":"2024-08-02T14:02:29Z","timestamp":1722607349000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing"],"prefix":"10.1186","volume":"16","author":[{"given":"Laura","family":"Holth\u00f6fer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Diederich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Verena","family":"Haug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lioba","family":"Lehmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Hewel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norbert W.","family":"Paul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susann","family":"Schweiger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Gerber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Linke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,8,2]]},"reference":[{"key":"1711_CR1","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1111\/j.1469-8749.1965.tb07844.x","volume":"7","author":"H Angelman","year":"1965","unstructured":"Angelman H. \u2018Puppet\u2019 children a report on three cases. 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