{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T20:02:55Z","timestamp":1792612975104,"version":"4.5.0"},"reference-count":44,"publisher":"Massachusetts Medical Society","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["N Engl J Med"],"published-print":{"date-parts":[[2015,1,22]]},"DOI":"10.1056\/nejmoa1406829","type":"journal-article","created":{"date-parts":[[2015,1,7]],"date-time":"2015-01-07T17:00:17Z","timestamp":1420650017000},"page":"341-350","source":"Crossref","is-referenced-by-count":285,"title":["<i>TBX6<\/i>\n                    Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis"],"prefix":"10.1056","volume":"372","author":[{"given":"Nan","family":"Wu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuan","family":"Ming","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianqiu","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhihong","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoli","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwan","family":"Shinawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiping","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangju","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaqi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoran S.","family":"Gucev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sen","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nan","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hussam","family":"Al-Kateb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Hauser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Velibor","family":"Tasic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pengfei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinlin","family":"Su","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuedong","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunyu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liwen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianxiong","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yulin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianguo","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwong Wai","family":"Choy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiqi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shugang","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weichen","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yipeng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"An","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiucun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenlei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuzhi","family":"Zuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Tian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xisheng","family":"Weng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. Reid","family":"Sutton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongyan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Ming","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shashikant","family":"Kulkarni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao P.","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip F.","family":"Giampietro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally L.","family":"Dunwoodie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sau Wai","family":"Cheung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guixing","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"150","reference":[{"key":"r001","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.12.3.280"},{"key":"r002","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2008.03452.x"},{"key":"r003","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.05.011"},{"key":"r004","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.02.054"},{"key":"r005","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.080503"},{"key":"r006","doi-asserted-by":"publisher","DOI":"10.1007\/s11689-009-9037-4"},{"key":"r007","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa075974"},{"key":"r008","doi-asserted-by":"publisher","DOI":"10.1038\/nature08727"},{"key":"r009","doi-asserted-by":"publisher","DOI":"10.1038\/nature10406"},{"key":"r010","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.09.007"},{"key":"r011","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069369"},{"key":"r012","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.31147"},{"key":"r013","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36401"},{"key":"r014","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2007.090290"},{"key":"r015","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21360"},{"key":"r016","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.24254"},{"key":"r017","doi-asserted-by":"publisher","DOI":"10.1016\/j.diff.2012.04.007"},{"key":"r018","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.1591"},{"key":"r019","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2012.130"},{"key":"r020","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2012.150"},{"key":"r021","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00520.x"},{"key":"r022","doi-asserted-by":"publisher","DOI":"10.1038\/nature11632"},{"key":"r023","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.164"},{"key":"r024","doi-asserted-by":"publisher","DOI":"10.1038\/35624"},{"key":"r025","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00367"},{"key":"r026","doi-asserted-by":"publisher","DOI":"10.1097\/BRS.0b013e3181bc963c"},{"key":"r027","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq365"},{"key":"r028","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btl394"},{"key":"r029","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-082908-150121"},{"key":"r030","doi-asserted-by":"publisher","DOI":"10.1038\/nature11247"},{"key":"r031","doi-asserted-by":"publisher","DOI":"10.1126\/science.1141319"},{"key":"r032","doi-asserted-by":"publisher","DOI":"10.1016\/j.gep.2008.05.003"},{"key":"r033","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(02)00394-5"},{"key":"r034","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010049"},{"key":"r035","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2779"},{"key":"r036","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1083"},{"key":"r037","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000177419.43309.37"},{"key":"r038","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1203382"},{"key":"r039","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1200395"},{"key":"r040","doi-asserted-by":"crossref","first-page":"1378","DOI":"10.1002\/ajmg.a.33471","volume":"152","author":"Gucev ZS","year":"2010","journal-title":"Am J Med Genet A"},{"key":"r041","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt012"},{"key":"r042","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2008.05.083"},{"key":"r043","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01754-07"},{"key":"r044","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2014.03.005"}],"container-title":["New England Journal of Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nejm.org\/doi\/pdf\/10.1056\/NEJMoa1406829","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,6]],"date-time":"2024-06-06T08:19:41Z","timestamp":1717661981000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.nejm.org\/doi\/10.1056\/NEJMoa1406829"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,22]]},"references-count":44,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,1,22]]}},"alternative-id":["10.1056\/NEJMoa1406829"],"URL":"https:\/\/doi.org\/10.1056\/nejmoa1406829","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.725299774.793503537","asserted-by":"object"}]},"ISSN":["0028-4793","1533-4406"],"issn-type":[{"value":"0028-4793","type":"print"},{"value":"1533-4406","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,1,22]]}}}