{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:03:18Z","timestamp":1760781798566},"reference-count":9,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2014,10,1]],"date-time":"2014-10-01T00:00:00Z","timestamp":1412121600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2014,10]]},"DOI":"10.1016\/j.gene.2014.08.016","type":"journal-article","created":{"date-parts":[[2014,8,8]],"date-time":"2014-08-08T20:20:12Z","timestamp":1407529212000},"page":"136-140","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Genotype-based databases for variants causing rare diseases"],"prefix":"10.1016","volume":"550","author":[{"given":"Barbara","family":"Lanthaler","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefanie","family":"Wieser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Deutschmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Schossig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Fauth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Zschocke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Witsch-Baumgartner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.gene.2014.08.016_bb0035","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.ajhg.2011.12.004","article-title":"Mutations in FKBP14 cause a variant of Ehlers\u2013Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss","volume":"90","author":"Baumann","year":"2012","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.gene.2014.08.016_bb0005","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/humu.21626","article-title":"Curating gene variant databases (LSDBs): toward a universal standard","volume":"33","author":"Celli","year":"2012","journal-title":"Hum. Mutat."},{"issue":"4","key":"10.1016\/j.gene.2014.08.016_bb0015","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/gm145","article-title":"Locus Reference Genomic sequences: an improved basis for describing human DNA variants","volume":"2","author":"Dalgleish","year":"2010","journal-title":"Genome Med."},{"issue":"5","key":"10.1016\/j.gene.2014.08.016_bb0010","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/humu.21438","article-title":"LOVD v. 2.0: the next generation in gene variant databases","volume":"32","author":"Fokkema","year":"2011","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.gene.2014.08.016_bb0025","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/ejhg.2012.169","article-title":"Maternal ABCA1 genotype is associated with severity of Smith\u2013Lemli\u2013Opitz syndrome and with viability of patients homozygous for null mutations","volume":"21","author":"Lanthaler","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"issue":"11","key":"10.1016\/j.gene.2014.08.016_bb0045","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1002\/humu.21339","article-title":"Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)","volume":"31","author":"Povey","year":"2010","journal-title":"Hum. Mutat."},{"issue":"4","key":"10.1016\/j.gene.2014.08.016_bb0040","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1016\/j.ajhg.2012.02.012","article-title":"Mutations in ROGDI cause Kohlschutter\u2013Tonz syndrome","volume":"90","author":"Schossig","year":"2012","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.gene.2014.08.016_bb0020","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/sj.ejhg.5200579","article-title":"Frequency gradients of DHCR7 mutations in patients with Smith\u2013Lemli\u2013Opitz syndrome in Europe: evidence for different origins of common mutations","volume":"9","author":"Witsch-Baumgartner","year":"2001","journal-title":"Eur. J. Hum. Genet."},{"issue":"8","key":"10.1016\/j.gene.2014.08.016_bb0030","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1136\/jmg.2004.018085","article-title":"Maternal apo E genotype is a modifier of the Smith\u2013Lemli\u2013Opitz syndrome","volume":"41","author":"Witsch-Baumgartner","year":"2004","journal-title":"J. Med. Genet."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111914009299?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111914009299?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T02:27:45Z","timestamp":1538360865000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111914009299"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["S0378111914009299"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2014.08.016","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2014,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genotype-based databases for variants causing rare diseases","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2014.08.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}