{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T17:10:03Z","timestamp":1749143403290,"version":"3.41.0"},"reference-count":26,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,3,16]],"date-time":"2025-03-16T00:00:00Z","timestamp":1742083200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100001545","name":"Children's Tumor Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001545","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010767","name":"Innovative Medicines Initiative","doi-asserted-by":"publisher","award":["853966"],"award-info":[{"award-number":["853966"]}],"id":[{"id":"10.13039\/501100010767","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013322","name":"European Federation of Pharmaceutical Industries and Associations","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010661","name":"Horizon 2020 Framework Programme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010661","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020337","name":"Springworks Therapeutics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100020337","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":[[2025,6]]},"DOI":"10.1016\/j.ejmg.2025.105011","type":"journal-article","created":{"date-parts":[[2025,3,17]],"date-time":"2025-03-17T19:09:48Z","timestamp":1742238588000},"page":"105011","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Identifying patients with neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM"],"prefix":"10.1016","volume":"75","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0928-4049","authenticated-orcid":false,"given":"Britt A.E.","family":"Dhaenens","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maxim","family":"Moinat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva-Maria","family":"Didden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadir","family":"Ammour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rianne","family":"Oostenbrink","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Rijnbeek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.ejmg.2025.105011_bib1","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1186\/s13023-022-02493-5","article-title":"Development of algorithms to identify individuals with Neurofibromatosis type 1 within administrative data and electronic medical records in Ontario, Canada","volume":"17","author":"Barnett","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"issue":"5","key":"10.1016\/j.ejmg.2025.105011_bib2","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1093\/neuonc\/nov200","article-title":"Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis","volume":"18","author":"Blakeley","year":"2016","journal-title":"Neuro Oncol."},{"key":"10.1016\/j.ejmg.2025.105011_bib3","first-page":"320","article-title":"The data gap in the EHR for clinical research eligibility screening","volume":"2017","author":"Butler","year":"2018","journal-title":"AMIA Jt Summits Transl Sci Proc"},{"issue":"1","key":"10.1016\/j.ejmg.2025.105011_bib4","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1177\/0883073817739509","article-title":"Optic pathway gliomas in neurofibromatosis type 1","volume":"33","author":"Campen","year":"2018","journal-title":"J. Child Neurol."},{"issue":"1","key":"10.1016\/j.ejmg.2025.105011_bib5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00392-016-1025-6","article-title":"Electronic health records to facilitate clinical research","volume":"106","author":"Cowie","year":"2017","journal-title":"Clin. Res. Cardiol."},{"issue":"Suppl. 1","key":"10.1016\/j.ejmg.2025.105011_bib6","doi-asserted-by":"crossref","first-page":"S23","DOI":"10.1097\/WNO.0000000000000550","article-title":"Optic pathway gliomas in neurofibromatosis type 1: an update: surveillance, treatment indications, and biomarkers of vision","volume":"37","author":"de Blank","year":"2017","journal-title":"J. Neuro Ophthalmol."},{"key":"10.1016\/j.ejmg.2025.105011_bib7","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.jbi.2014.10.006","article-title":"Using electronic health records for clinical research: the case of the EHR4CR project","volume":"53","author":"De Moor","year":"2015","journal-title":"J. Biomed. Inf."},{"issue":"11","key":"10.1016\/j.ejmg.2025.105011_bib8","doi-asserted-by":"crossref","DOI":"10.1002\/pds.70042","article-title":"Standardised and reproducible phenotyping using distributed analytics and tools in the data analysis and real world interrogation network (Darwin EU)","volume":"33","author":"Dernie","year":"2024","journal-title":"Pharmacoepidemiol. Drug Saf."},{"issue":"2","key":"10.1016\/j.ejmg.2025.105011_bib9","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1177\/1740774510363013","article-title":"Routine data from hospital information systems can support patient recruitment for clinical studies","volume":"7","author":"Dugas","year":"2010","journal-title":"Clin. Trials"},{"issue":"2","key":"10.1016\/j.ejmg.2025.105011_bib11","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/ajmg.a.33139","article-title":"Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service","volume":"152A","author":"Evans","year":"2010","journal-title":"Am. J. Med. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2025.105011_bib12","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1136\/jnnp.2010.206532","article-title":"The neurofibromatoses","volume":"10","author":"Ferner","year":"2010","journal-title":"Pract. Neurol."},{"key":"10.1016\/j.ejmg.2025.105011_bib13","doi-asserted-by":"crossref","DOI":"10.1038\/nrdp.2017.4","article-title":"Neurofibromatosis type 1","volume":"3","author":"Gutmann","year":"2017","journal-title":"Nat. Rev. Dis. Primers"},{"issue":"1","key":"10.1016\/j.ejmg.2025.105011_bib14","first-page":"1203","article-title":"A general framework for considering selection bias in EHR-based studies: what data are observed and why?","volume":"4","author":"Haneuse","year":"2016","journal-title":"EGEMS (Wash DC)"},{"key":"10.1016\/j.ejmg.2025.105011_bib15","first-page":"574","article-title":"Observational health data Sciences and Informatics (OHDSI): opportunities for observational researchers","volume":"216","author":"Hripcsak","year":"2015","journal-title":"Stud. Health Technol. Inf."},{"key":"10.1016\/j.ejmg.2025.105011_bib16","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbi.2023.104343","article-title":"Representing and utilizing clinical textual data for real world studies: an OHDSI approach","volume":"142","author":"Keloth","year":"2023","journal-title":"J. Biomed. Inf."},{"issue":"3","key":"10.1016\/j.ejmg.2025.105011_bib17","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1007\/s40273-020-00981-9","article-title":"Common problems, common data Model solutions: evidence generation for health technology assessment","volume":"39","author":"Kent","year":"2021","journal-title":"Pharmacoeconomics"},{"issue":"1","key":"10.1016\/j.ejmg.2025.105011_bib18","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1186\/s13023-023-02911-2","article-title":"Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis","volume":"18","author":"Lee","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"issue":"1","key":"10.1016\/j.ejmg.2025.105011_bib19","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0022-3476(94)70122-9","article-title":"Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study","volume":"125","author":"Listernick","year":"1994","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ejmg.2025.105011_bib20","first-page":"575","article-title":"National Institutes of Health Consensus Development Conference","volume":"45","year":"1988","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ejmg.2025.105011_bib21","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/s12911-015-0149-3","article-title":"Increasing the efficiency of trial-patient matching: automated clinical trial eligibility pre-screening for pediatric oncology patients","volume":"15","author":"Ni","year":"2015","journal-title":"BMC Med. Inf. Decis. Making"},{"key":"10.1016\/j.ejmg.2025.105011_bib23","first-page":"158","article-title":"Design for a modular clinical trial recruitment support system based on FHIR and OMOP","volume":"270","author":"Reinecke","year":"2020","journal-title":"Stud. Health Technol. Inf."},{"issue":"2","key":"10.1016\/j.ejmg.2025.105011_bib24","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.jaapos.2009.11.020","article-title":"Optic pathway gliomas in patients with neurofibromatosis type 1: follow-up of 44 patients","volume":"14","author":"Segal","year":"2010","journal-title":"J Aapos"},{"year":"1992","series-title":"Patient Recruitment in Clinical Trials","author":"Spilker","key":"10.1016\/j.ejmg.2025.105011_bib25"},{"key":"10.1016\/j.ejmg.2025.105011_bib26","first-page":"7","article-title":"Structural reforms and hospital payment in The Netherlands","volume":"3","author":"Tan","year":"2010","journal-title":"EuroObserver"},{"issue":"3","key":"10.1016\/j.ejmg.2025.105011_bib27","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1038\/jid.2014.465","article-title":"Incidence and mortality of neurofibromatosis: a total population study in Finland","volume":"135","author":"Uusitalo","year":"2015","journal-title":"J. Invest. Dermatol."},{"issue":"17","key":"10.1016\/j.ejmg.2025.105011_bib28","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1200\/JCO.2015.65.3576","article-title":"Distinctive cancer associations in patients with neurofibromatosis type 1","volume":"34","author":"Uusitalo","year":"2016","journal-title":"J. Clin. Oncol."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721225000187?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721225000187?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T16:47:36Z","timestamp":1749142056000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721225000187"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6]]},"references-count":26,"alternative-id":["S1769721225000187"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2025.105011","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2025,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identifying patients with neurofibromatosis type 1 related optic pathway glioma using the OMOP CDM","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2025.105011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"105011"}}