{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T10:49:31Z","timestamp":1789555771242,"version":"build-2803163510"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,3,15]],"date-time":"2023-03-15T00:00:00Z","timestamp":1678838400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Genetic testing and management of individuals at risk for\n                    <jats:italic>NF2<\/jats:italic>\n                    \u2010related schwannomatosis is complicated by the high rate of mosaicism resulting in a milder, later onset, more asymmetrical disease and the phenotypic overlap with the related schwannomatosis conditions. This updated protocol has been devised for the English\n                    <jats:italic>NF2<\/jats:italic>\n                    \u2010related schwannomatosis service. It provides those affected with mosaic\n                    <jats:italic>NF2<\/jats:italic>\n                    \u2010related schwannomatosis estimated risks of having an affected child; and management guidelines both for individuals at risk of\n                    <jats:italic>NF2<\/jats:italic>\n                    \u2010related schwannomatosis, or with potential disease, due to having features that fall short of consensus diagnostic criteria. Risks of mosaicism and inferred transmission risks were derived from genetic testing of over 1000 individuals through the Manchester\n                    <jats:italic>NF2<\/jats:italic>\n                    genetic testing service. This updated protocol, reflects the lower transmission risks now inferred in mosaic\n                    <jats:italic>NF2<\/jats:italic>\n                    \u2010related schwannomatosis, informed by the greater sensitivity of Next Generation Sequencing in detecting low levels of mosaicism in blood, along with improved ability to analyse tumour DNA. Screening for features of\n                    <jats:italic>NF2<\/jats:italic>\n                    \u2010related schwannomatosis is proposed until the risk of having the condition falls below a pragmatic threshold of 1%. Using these revised transmission figures, this threshold can now be reached at a younger age in many of those at risk, with earlier reassurance and discharge.\n                  <\/jats:p>","DOI":"10.1111\/cge.14310","type":"journal-article","created":{"date-parts":[[2023,2,10]],"date-time":"2023-02-10T09:47:58Z","timestamp":1676022478000},"page":"540-552","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Updated protocol for genetic testing, screening and clinical management of individuals at risk of\n                    <i>NF2<\/i>\n                    \u2010related schwannomatosis"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1098-8599","authenticated-orcid":false,"given":"Dorothy","family":"Halliday","sequence":"first","affiliation":[{"name":"Oxford Centre for Genomic Medicine Oxford University Hospitals NHS Trust  Oxford UK"},{"name":"Oxford NF2 Unit Oxford University Hospitals NHS Foundation Trust  Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1223-5571","authenticated-orcid":false,"given":"Beatrice","family":"Emmanouil","sequence":"additional","affiliation":[{"name":"Oxford NF2 Unit Oxford University Hospitals NHS Foundation Trust  Oxford UK"},{"name":"Centre for Immunobiology, Blizard Institute Queen Mary University of London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8482-5784","authenticated-orcid":false,"given":"D. Gareth R.","family":"Evans","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Division of Evolution and Genomic Science University of Manchester  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,3,15]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104519"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0598-7"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.047753"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01816.x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.05.007"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1080\/02688690500081206"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.81.6.496"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.12.944"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.165.4.7676998"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3171\/spi.2005.2.5.0574"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.070342"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00778.x"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.3171\/JNS\/2008\/108\/01\/0092"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000163982.78900.AD"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.056499"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.4427"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.075721"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13551"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/WNO.0000000000000675"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.27554"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.023705"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0384-y"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520411"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14310","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.14310","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14310","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T14:57:45Z","timestamp":1692543465000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14310"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,15]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["10.1111\/cge.14310"],"URL":"https:\/\/doi.org\/10.1111\/cge.14310","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14310\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14310\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14310\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14310\/v1\/review3","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14310\/v2\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,15]]},"assertion":[{"value":"2022-11-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}