{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T06:48:46Z","timestamp":1776235726456,"version":"3.50.1"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2022,5,30]],"date-time":"2022-05-30T00:00:00Z","timestamp":1653868800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,5,30]],"date-time":"2022-05-30T00:00:00Z","timestamp":1653868800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100014370","name":"Simons Foundation Autism Research Initiative","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014370","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001951","name":"Angelman Syndrome Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001951","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Angelman Syndrome Alliance"},{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Angelman syndrome is a rare neurodevelopmental disorder caused by mutations affecting the chromosomal 15q11-13 region, either by contiguous gene deletions, imprinting defects, uniparental disomy, or mutations in the UBE3A gene itself. Phenotypic abnormalities are driven primarily, but not exclusively (especially in 15q11-13 deletion cases) by loss of expression of the maternally inherited <jats:italic>UBE3A<\/jats:italic> gene expression. The disorder was first described in 1965 by the English pediatrician Harry Angelman. Since that first description of three children with Angelman syndrome, there has been extensive research into the genetic, molecular and phenotypic aspects of the disorder. In the last decade, this has resulted in over 100 publications per year. Collectively, this research has led the field to a pivotal point in which restoring UBE3A function by genetic therapies is currently explored in several clinical trials. In this study, we employed a bibliometric approach to review and visualize the development of Angelman syndrome research over the last 50\u00a0years. We look into different parameters shaping the progress of the Angelman syndrome research field, including source of funding, publishing journals and international collaborations between research groups. Using a network approach, we map the focus of the research field and how that shifted over time. This overview helps understand the shift of research focus in the field and can provide a comprehensive handbook of Angelman syndrome research development.<\/jats:p>","DOI":"10.1007\/s00439-022-02460-x","type":"journal-article","created":{"date-parts":[[2022,5,30]],"date-time":"2022-05-30T17:06:31Z","timestamp":1653930391000},"page":"1837-1848","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research"],"prefix":"10.1007","volume":"141","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0419-5864","authenticated-orcid":false,"given":"F. Isabella","family":"Zampeta","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ben","family":"Distel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3758-1297","authenticated-orcid":false,"given":"Ype","family":"Elgersma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5405-0535","authenticated-orcid":false,"given":"Rik","family":"Iping","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,5,30]]},"reference":[{"issue":"6","key":"2460_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 (1965) \u2018Puppet\u2019 children a report on three cases. Dev Med Child Neurol 7(6):681\u2013688. https:\/\/doi.org\/10.1111\/J.1469-8749.1965.TB07844.X","journal-title":"Dev Med Child Neurol"},{"issue":"6","key":"2460_CR2","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1093\/CARCIN\/BGZ072","volume":"40","author":"I Bandilovska","year":"2019","unstructured":"Bandilovska I, Keam S, Gamell C, Machicado C, Haupt S, Haupt Y (2019) E6AP goes viral: the role of E6AP in viral- and non-viral-related cancers. Carcinogenesis 40(6):707\u2013714. https:\/\/doi.org\/10.1093\/CARCIN\/BGZ072","journal-title":"Carcinogenesis"},{"issue":"2","key":"2460_CR3","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1002\/WRNA.1150","volume":"4","author":"S Chamberlain","year":"2013","unstructured":"Chamberlain S (2013) RNAs of the human chromosome 15q11-q13 imprinted region. Wiley Interdisciplinary Rev RNA 4(2):155\u2013166. https:\/\/doi.org\/10.1002\/WRNA.1150","journal-title":"Wiley Interdisciplinary Rev RNA"},{"issue":"41","key":"2460_CR4","doi-asserted-by":"publisher","first-page":"17668","DOI":"10.1073\/PNAS.1004487107","volume":"107","author":"S Chamberlain","year":"2010","unstructured":"Chamberlain S, Chen P, Ng K, Bourgois-Rocha F, Lemtiri-Chlieh F, Levine E, Lalande M (2010) Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes. 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