{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T17:34:38Z","timestamp":1786988078027,"version":"build-2736575974"},"reference-count":16,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2023,5]]},"DOI":"10.1016\/j.ejmg.2023.104736","type":"journal-article","created":{"date-parts":[[2023,3,10]],"date-time":"2023-03-10T21:01:11Z","timestamp":1678482071000},"page":"104736","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome"],"prefix":"10.1016","volume":"66","author":[{"given":"Conny M.A.","family":"van Ravenswaaij-Arts","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid D.C.","family":"van Balkom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Jesse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria C.","family":"Bonaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2023.104736_bib1","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1016\/j.jclinepi.2010.07.001","article-title":"Agree II : advancing guideline development, reporting and evaluation in health care","volume":"63","author":"Brouwers","year":"2010","journal-title":"J. Clin. Epidemiol."},{"key":"10.1016\/j.ejmg.2023.104736_bib2","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2023.104745","article-title":"The European Phelan-McDermid syndrome consortium, Swillen A. Consensus recommendations on Communication, language and speech in Phelan-McDermid syndrome","author":"Burdeus-Olavarrieta","year":"2023","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104736_bib3","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2023.104767","article-title":"Consensus recommendations on Lymphedema in phelan-McDermid syndrome","author":"Damstra","year":"2023","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104736_bib4","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2023.104746","article-title":"Consensus recommendations on Epilepsy in phelan-McDermid syndrome","author":"de Coo","year":"2023","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104736_bib5","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2023.104773","article-title":"Consensus recommendations on counseling in Phelan-McDermid syndrome; with special attention to recurrence risk and to ring chromosome 22","author":"Koza","year":"2023","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104736_bib6","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2023.104771","article-title":"Parental perspectives on Phelan-McDermid syndrome; results of a world-wide survey","author":"Landlust","year":"2023","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104736_bib7","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2023.104763","article-title":"European Phelan-McDermid syndrome consortium, Grabrucker AM. Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome","author":"Matulevi\u010dien\u0117","year":"2023","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104736_bib8","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0170365","article-title":"Clinical practice guidelines for rare diseases: the Orphanet database","volume":"12","author":"Pavan","year":"2017","journal-title":"PLoS One"},{"key":"10.1016\/j.ejmg.2023.104736_bib9","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/s13023-022-02180-5","article-title":"Phelan-McDermid syndrome: a classification system after 30 years of experience","volume":"17","author":"Phelan","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ejmg.2023.104736_bib10","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1002\/1096-8628(20010615)101:2<91::AID-AJMG1340>3.0.CO;2-C","article-title":"22q13 deletion syndrome","volume":"101","author":"Phelan","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104736_bib11","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2023.104750","article-title":"The European Phelan-McDermid Syndrome consortium, Loth, E. Consensus recommendations on sleeping problems in Phelan-McDermid syndrome","author":"San Jos\u00e9 C\u00e1ceres","year":"2023","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104736_bib12","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2023.104754","article-title":"Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome","author":"Sch\u00f6n","year":"2023","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104736_bib13","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2023.104770","article-title":"Consensus recommendations on mental health issues in phelan-McDermid syndrome","author":"van Balkom","year":"2023","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104736_bib14","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2023.104747","article-title":"Consensus recommendations on Organization of care in Phelan-McDermid syndrome","author":"van Eeghen","year":"2023","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104736_bib15","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2023.104732","article-title":"Dissecting the 22q13 region to explore the genetic and phenotypic diversity in patients with Phelan McDermid syndrome","author":"Vitrac","year":"2023","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2023.104736_bib16","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2023.104726","article-title":"The European Phelan-McDermid syndrome consortium, Van Buggenhout G. Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome","author":"Walinga","year":"2023","journal-title":"Eur. J. Med. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721223000423?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721223000423?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:54:11Z","timestamp":1761710051000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721223000423"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["S1769721223000423"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2023.104736","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2023,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2023.104736","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104736"}}