{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T16:31:48Z","timestamp":1793291508661,"version":"4.5.0"},"reference-count":11,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,8,22]],"date-time":"2013-08-22T00:00:00Z","timestamp":1377129600000},"content-version":"vor","delay-in-days":233,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2013,1]]},"DOI":"10.1016\/j.ajhg.2012.11.011","type":"journal-article","created":{"date-parts":[[2012,12,27]],"date-time":"2012-12-27T10:15:18Z","timestamp":1356603318000},"page":"137-143","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":61,"title":["Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia"],"prefix":"10.1016","volume":"92","author":[{"given":"Jennifer\u00a0E.","family":"Below","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn\u00a0L.","family":"Earl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn\u00a0M.","family":"Shively","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret\u00a0J.","family":"McMillin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua\u00a0D.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily\u00a0H.","family":"Turner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark\u00a0J.","family":"Stephan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihadh\u00a0I.","family":"Al-Gazali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef\u00a0L.","family":"Hertecant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheila","family":"Unger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel\u00a0H.","family":"Cohn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Krakow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James\u00a0M.","family":"Swanson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine\u00a0M.","family":"Faustman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jay","family":"Shendure","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah\u00a0A.","family":"Nickerson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael\u00a0J.","family":"Bamshad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3D","key":"10.1016\/j.ajhg.2012.11.011_bib1","first-page":"155","article-title":"A unique chondrodysplasia secondary to a defect in chondroosseous transformation","volume":"13","author":"Zonana","year":"1977","journal-title":"Birth Defects Orig. Artic. Ser."},{"key":"10.1016\/j.ajhg.2012.11.011_bib2","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/ajmg.1320190117","article-title":"Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae","volume":"19","author":"Maroteaux","year":"1984","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2012.11.011_bib3","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1136\/jmg.40.3.195","article-title":"Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases","volume":"40","author":"Cormier-Daire","year":"2003","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2012.11.011_bib4","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1002\/ajmg.1320490321","article-title":"Additional case of opsismodysplasia supporting autosomal recessive inheritance","volume":"49","author":"Beemer","year":"1994","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2012.11.011_bib5","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1097\/00019605-199507000-00005","article-title":"Opsismodysplasia: another case and literature review","volume":"4","author":"Santos","year":"1995","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ajhg.2012.11.011_bib6","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/(SICI)1096-8628(19990305)83:1<47::AID-AJMG9>3.0.CO;2-5","article-title":"Five familial cases\u00a0of opsismodysplasia substantiate the hypothesis of\u00a0autosomal recessive inheritance","volume":"83","author":"Tyler","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2012.11.011_bib7","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2012.11.011_bib8","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/35051094","article-title":"The lipid phosphatase SHIP2 controls insulin sensitivity","volume":"409","author":"Cl\u00e9ment","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2012.11.011_bib9","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1016\/j.cellsig.2012.06.012","article-title":"Developmental defects\u00a0and rescue from glucose intolerance of a catalytically-inactive novel Ship2 mutant mouse","volume":"24","author":"Dubois","year":"2012","journal-title":"Cell. Signal."},{"key":"10.1016\/j.ajhg.2012.11.011_bib10","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1038\/nm1178","article-title":"Absence of the lipid phosphatase SHIP2 confers resistance to dietary obesity","volume":"11","author":"Sleeman","year":"2005","journal-title":"Nat. Med."},{"key":"10.1016\/j.ajhg.2012.11.011_bib11","doi-asserted-by":"crossref","first-page":"2203","DOI":"10.1002\/jcb.23146","article-title":"SHIP2 multiple functions: a balance between\u00a0a negative control of PtdIns(3,4,5)P3 level, a positive control of PtdIns(3,4)P2 production, and intrinsic docking properties","volume":"112","author":"Erneux","year":"2011","journal-title":"J. Cell. Biochem."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929712006246?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929712006246?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,19]],"date-time":"2018-10-19T17:25:19Z","timestamp":1539969919000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929712006246"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["S0002929712006246"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2012.11.011","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.717986703.793472262","asserted-by":"object"}]},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2013,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2012.11.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2012.11.015","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}