{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T10:19:10Z","timestamp":1790849950523,"version":"4.1.0"},"reference-count":56,"publisher":"Portico","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,12,4]]},"DOI":"10.1038\/bonekey.2013.190","type":"journal-article","created":{"date-parts":[[2014,2,14]],"date-time":"2014-02-14T09:58:44Z","timestamp":1392371924000},"source":"Crossref","is-referenced-by-count":21,"title":["Whole exome sequencing is an efficient, sensitive and specific method of\n                        mutation detection in osteogenesis imperfecta and Marfan syndrome"],"prefix":"10.3730","volume":"2","author":[{"given":"Aideen M","family":"McInerney-Leo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mhairi S","family":"Marshall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brooke","family":"Gardiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J","family":"Coucke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lut","family":"Van Laer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart L","family":"Loeys","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim M","family":"Summers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofie","family":"Symoens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer A","family":"West","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malcolm J","family":"West","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Paul Wordsworth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Zankl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J","family":"Leo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma L","family":"Duncan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1320","reference":[{"key":"bonekey2013190-b1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.10.007"},{"key":"bonekey2013190-b2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20429"},{"key":"bonekey2013190-b3","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bb.20.060191.001033"},{"key":"bonekey2013190-b4","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051322"},{"key":"bonekey2013190-b5","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2006.08.039"},{"key":"bonekey2013190-b6","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2011.44"},{"key":"bonekey2013190-b7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.001"},{"key":"bonekey2013190-b8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.034"},{"key":"bonekey2013190-b9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.02.022"},{"key":"bonekey2013190-b10","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.487"},{"key":"bonekey2013190-b11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.01.015"},{"key":"bonekey2013190-b12","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21647"},{"key":"bonekey2013190-b13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.011"},{"key":"bonekey2013190-b14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.005"},{"key":"bonekey2013190-b15","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.080412"},{"key":"bonekey2013190-b16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.05.016"},{"key":"bonekey2013190-b17","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101142"},{"key":"bonekey2013190-b18","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.02.010"},{"key":"bonekey2013190-b19","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33909"},{"key":"bonekey2013190-b20","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.81"},{"key":"bonekey2013190-b21","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)67789-6"},{"key":"bonekey2013190-b22","first-page":"220","volume":"13","author":"Marfan A","year":"1896","journal-title":"Bull memoires Soc med h&ocirc;sp Paris"},{"key":"bonekey2013190-b23","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"bonekey2013190-b24","first-page":"647","volume":"5","author":"Porciani MC","year":"2004","journal-title":"Ital Heart J"},{"key":"bonekey2013190-b25","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197204132861502"},{"key":"bonekey2013190-b26","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(00)80066-1"},{"key":"bonekey2013190-b27","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0706585"},{"key":"bonekey2013190-b28","doi-asserted-by":"publisher","DOI":"10.1038\/352330a0"},{"key":"bonekey2013190-b29","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20070"},{"key":"bonekey2013190-b30","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21518"},{"key":"bonekey2013190-b31","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.039669"},{"key":"bonekey2013190-b32","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.1.229"},{"key":"bonekey2013190-b33","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.174"},{"key":"bonekey2013190-b34","unstructured":""},{"key":"bonekey2013190-b35","doi-asserted-by":"publisher","DOI":"10.1086\/302309"},{"key":"bonekey2013190-b36","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"},{"key":"bonekey2013190-b37","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20871"},{"key":"bonekey2013190-b38","doi-asserted-by":"publisher","DOI":"10.1253\/circj.CJ-09-0757"},{"key":"bonekey2013190-b39","doi-asserted-by":"publisher","DOI":"10.1038\/ng.744"},{"key":"bonekey2013190-b40","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2009.00545.x"},{"key":"bonekey2013190-b41","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.161.20.2447"},{"key":"bonekey2013190-b42","unstructured":""},{"key":"bonekey2013190-b43","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/bbs017"},{"key":"bonekey2013190-b44","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"bonekey2013190-b45","doi-asserted-by":"publisher","DOI":"10.1093\/bib\/bbq015"},{"key":"bonekey2013190-b46","doi-asserted-by":"publisher","DOI":"10.1101\/gr.112326.110"},{"key":"bonekey2013190-b47","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.1628"},{"key":"bonekey2013190-b48","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4"},{"key":"bonekey2013190-b49","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.12.060"},{"key":"bonekey2013190-b50","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22332"},{"key":"bonekey2013190-b51","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2013.04.013"},{"key":"bonekey2013190-b52","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.13-11672"},{"key":"bonekey2013190-b53","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"bonekey2013190-b54","doi-asserted-by":"publisher","DOI":"10.1038\/nature09534"},{"key":"bonekey2013190-b55","first-page":"1","volume":"10","author":"Love MI","year":"2011","journal-title":"Stat Appl Genet Mol Biol"},{"key":"bonekey2013190-b56","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts526"}],"container-title":["BoneKEy Reports"],"original-title":[],"deposited":{"date-parts":[[2017,10,4]],"date-time":"2017-10-04T16:23:09Z","timestamp":1507134189000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.portico.org\/Portico\/article?article=phx23b2jqt0"},"secondary":[{"URL":"http:\/\/triggered.stanford.clockss.org\/ServeContent?url=https%3A%2F%2Fbonekey.stanford.clockss.org%2F2013%2Fbonekeyreports_2013_bonekey2013190_fulltext%2Fbonekey2013190.pdf","label":"CLOCKSS_SU"},{"URL":"http:\/\/triggered.edina.clockss.org\/ServeContent?url=https%3A%2F%2Fbonekey.stanford.clockss.org%2F2013%2Fbonekeyreports_2013_bonekey2013190_fulltext%2Fbonekey2013190.pdf","label":"CLOCKSS_EDINA"}]},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,4]]},"references-count":56,"URL":"https:\/\/doi.org\/10.1038\/bonekey.2013.190","relation":{},"ISSN":["2047-6396"],"issn-type":[{"value":"2047-6396","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,4]]}}}