{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:35:08Z","timestamp":1791333308721,"version":"4.3.1"},"reference-count":29,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T00:00:00Z","timestamp":1501545600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T00:00:00Z","timestamp":1501545600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,1,19]],"date-time":"2022-01-19T00:00:00Z","timestamp":1642550400000},"content-version":"vor","delay-in-days":1632,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2017,8]]},"DOI":"10.1038\/gim.2016.204","type":"journal-article","created":{"date-parts":[[2017,4,12]],"date-time":"2017-04-12T05:39:19Z","timestamp":1491975559000},"page":"875-882","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":122,"title":["Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center"],"prefix":"10.1016","volume":"19","author":[{"given":"Thierry","family":"Vilboux","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel A.","family":"Doherty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian A.","family":"Glass","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa A.","family":"Parisi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian G.","family":"Phelps","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew R.","family":"Cullinane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wadih","family":"Zein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian P.","family":"Brooks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theo","family":"Heller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariane","family":"Soldatos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neal L.","family":"Oden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deniz","family":"Yildirimli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meghana","family":"Vemulapalli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James C.","family":"Mullikin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"May Christine V.","family":"Malicdan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meral","family":"Gunay-Aygun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/gim.2016.204_bb0010","author":"Joubert"},{"key":"10.1038\/gim.2016.204_bb0015","series-title":"GeneReviews","article-title":"Joubert syndrome and related disorders","author":"Parisi","year":"1993"},{"key":"10.1038\/gim.2016.204_bb0020","author":"Parisi"},{"key":"10.1038\/gim.2016.204_bb0025","author":"Gleeson"},{"key":"10.1038\/gim.2016.204_bb0030","author":"Gunay-Aygun"},{"key":"10.1038\/gim.2016.204_bb0035","author":"Romani"},{"key":"10.1038\/gim.2016.204_bb0040","author":"Hildebrandt"},{"key":"10.1038\/gim.2016.204_bb0045","author":"Szymanska"},{"key":"10.1038\/gim.2016.204_bb0050","author":"NISC Comparative Sequencing Program"},{"key":"10.1038\/gim.2016.204_bb0055","author":"Hardenbol"},{"key":"10.1038\/gim.2016.204_bb0060","author":"Porreca"},{"key":"10.1038\/gim.2016.204_bb0065","author":"O\u2019Roak"},{"key":"10.1038\/gim.2016.204_bb0070","author":"Shen"},{"key":"10.1038\/gim.2016.204_bb0075","author":"University of Washington Center for Mendelian Genomics"},{"key":"10.1038\/gim.2016.204_bb0080","author":"Bentley"},{"key":"10.1038\/gim.2016.204_bb0085","author":"Teer"},{"key":"10.1038\/gim.2016.204_bb0090","author":"Teer"},{"key":"10.1038\/gim.2016.204_bb0095","author":"Kircher"},{"key":"10.1038\/gim.2016.204_bb0100","doi-asserted-by":"crossref","unstructured":"Vilboux T, Malicdan MCV, Roney J, et al. CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency. Am J Med Genet A 2017. doi: 10.1002\/ajmg.a.38005.","DOI":"10.1002\/ajmg.a.38005"},{"key":"10.1038\/gim.2016.204_bb0105","author":"Chevrier"},{"key":"10.1038\/gim.2016.204_bb0110","author":"FORGE Canada Consortium"},{"key":"10.1038\/gim.2016.204_bb0115","author":"Edvardson"},{"key":"10.1038\/gim.2016.204_bb0120","author":"Huang"},{"key":"10.1038\/gim.2016.204_bb0125","author":"Peng"},{"key":"10.1038\/gim.2016.204_bb0130","author":"Doherty"},{"key":"10.1038\/gim.2016.204_bb0135","author":"Kroes"},{"key":"10.1038\/gim.2016.204_bb0140","author":"Saraiva"},{"key":"10.1038\/gim.2016.204_bb0145","author":"Satran"},{"key":"10.1038\/gim.2016.204_bb0150","author":"Knopp"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/gim2016204.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/gim2016204","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021022048?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021022048?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/doifinder\/10.1038\/gim.2016.204","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/www.nature.com\/articles\/gim2016204.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:46:59Z","timestamp":1761097619000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360021022048"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8]]},"references-count":29,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2017,8]]}},"alternative-id":["S1098360021022048"],"URL":"https:\/\/doi.org\/10.1038\/gim.2016.204","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2017,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/gim.2016.204","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics","name":"copyright","label":"Copyright"}]}}