{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:02:18Z","timestamp":1792785738149,"version":"4.5.0"},"reference-count":14,"publisher":"Elsevier BV","issue":"6-7","license":[{"start":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T00:00:00Z","timestamp":1433116800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T00:00:00Z","timestamp":1433116800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Australian Government National Health and Medical Research Council of Australia","award":["APP628952"],"award-info":[{"award-number":["APP628952"]}],"id":[{"id":"https:\/\/ror.org\/011kf5r70","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Australian Government National Health and Medical Research Council of Australia","award":["APP1041920"],"award-info":[{"award-number":["APP1041920"]}],"id":[{"id":"https:\/\/ror.org\/011kf5r70","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Australian Government National Health and Medical Research Council of Australia","award":["APP1008077"],"award-info":[{"award-number":["APP1008077"]}],"id":[{"id":"https:\/\/ror.org\/011kf5r70","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Australian Government National Health and Medical Research Council of Australia","award":["APP1054618"],"award-info":[{"award-number":["APP1054618"]}],"id":[{"id":"https:\/\/ror.org\/011kf5r70","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Independent Research Institute Infrastructure Support Scheme"},{"name":"Victorian State Government Operational Infrastructure Program","id":[{"id":"https:\/\/ror.org\/035dsh769","id-type":"ROR","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000923","name":"The Australian Research Council","doi-asserted-by":"crossref","award":["FT100100764"],"award-info":[{"award-number":["FT100100764"]}],"id":[{"id":"10.13039\/501100000923","id-type":"DOI","asserted-by":"crossref"}]},{"name":"European Union Framework Programme","id":[{"id":"https:\/\/ror.org\/019w4f821","id-type":"ROR","asserted-by":"crossref"}]}],"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":[[2015,6]]},"DOI":"10.1016\/j.ejmg.2015.04.004","type":"journal-article","created":{"date-parts":[[2015,4,28]],"date-time":"2015-04-28T02:16:57Z","timestamp":1430187417000},"page":"364-368","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":20,"title":["Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome"],"prefix":"10.1016","volume":"58","author":[{"given":"Marie","family":"Shaw","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tzu Ying","family":"Yap","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyndal","family":"Henden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Bahlo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Gardner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera M.","family":"Kalscheuer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7310-5124","authenticated-orcid":false,"given":"Eric","family":"Haan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Christie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Hackett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7884-6861","authenticated-orcid":false,"given":"Jozef","family":"Gecz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2015.04.004_bib1","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng786","article-title":"Merlin-rapid analysis of dense genetic maps using sparse gene flow trees","volume":"30","author":"Abecasis","year":"2002","journal-title":"Nat Genet"},{"issue":"15","key":"10.1016\/j.ejmg.2015.04.004_bib2","doi-asserted-by":"crossref","first-page":"1961","DOI":"10.1093\/bioinformatics\/btp313","article-title":"Generating linkage mapping files from Affymetrix SNP chip data","volume":"25","author":"Bahlo","year":"2009","journal-title":"Bioinformatics"},{"issue":"22","key":"10.1016\/j.ejmg.2015.04.004_bib3","doi-asserted-by":"crossref","first-page":"6050","DOI":"10.1002\/j.1460-2075.1996.tb00993.x","article-title":"Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders","volume":"15","author":"Bateman","year":"1996","journal-title":"EMBO J"},{"issue":"1","key":"10.1016\/j.ejmg.2015.04.004_bib4","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1002\/(SICI)1096-8628(20000501)92:1<40::AID-AJMG7>3.0.CO;2-R","article-title":"Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease","volume":"92","author":"Finckh","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ejmg.2015.04.004_bib5","article-title":"X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes","author":"Hu","year":"2015","journal-title":"Mol Psychiatry"},{"issue":"6","key":"10.1016\/j.ejmg.2015.04.004_bib6","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1093\/hmg\/9.6.879","article-title":"Neural cell recognition molecule L1: relating biological complexity to human disease mutations","volume":"9","author":"Kenwrick","year":"2000","journal-title":"Hum Mol Genet"},{"issue":"3","key":"10.1016\/j.ejmg.2015.04.004_bib7","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A\u00a0general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat Genet"},{"issue":"6184","key":"10.1016\/j.ejmg.2015.04.004_bib8","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1038\/334701a0","article-title":"Neural adhesion molecule L1 as a member of the immunoglobulin superfamily with binding domains similar to fibronectin","volume":"334","author":"Moos","year":"1988","journal-title":"Nature"},{"issue":"3","key":"10.1016\/j.ejmg.2015.04.004_bib9","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a tool set for whole-genome association and population-based linkage analyses","volume":"81","author":"Purcell","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"9","key":"10.1016\/j.ejmg.2015.04.004_bib10","doi-asserted-by":"crossref","first-page":"R85","DOI":"10.1186\/gb-2011-12-9-r85","article-title":"Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes","volume":"12","author":"Smith","year":"2011","journal-title":"Genome Biol"},{"issue":"4","key":"10.1016\/j.ejmg.2015.04.004_bib11","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1177\/088307380001500407","article-title":"Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus","volume":"15","author":"Sztriha","year":"2000","journal-title":"J\u00a0Child Neurol"},{"issue":"1","key":"10.1016\/j.ejmg.2015.04.004_bib12","doi-asserted-by":"crossref","first-page":"E1102","DOI":"10.1002\/humu.21172","article-title":"An updated and upgraded L1CAM mutation database","volume":"31","author":"Vos","year":"2010","journal-title":"Hum Mutat"},{"issue":"1","key":"10.1016\/j.ejmg.2015.04.004_bib13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/humu.1144","article-title":"Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): mutations in the L1CAM gene","volume":"18","author":"Weller","year":"2001","journal-title":"Hum Mutat"},{"issue":"6","key":"10.1016\/j.ejmg.2015.04.004_bib14","doi-asserted-by":"crossref","first-page":"402","DOI":"10.2174\/138920209789177575","article-title":"Hidden Markov models and their applications in biological sequence analysis","volume":"10","author":"Yoon","year":"2009","journal-title":"Curr Genomics"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721215000774?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721215000774?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:41:47Z","timestamp":1761709307000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721215000774"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6]]},"references-count":14,"journal-issue":{"issue":"6-7","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["S1769721215000774"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2015.04.004","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2015,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 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.2015.04.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}