{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:09:02Z","timestamp":1790694542300,"version":"4.1.0"},"reference-count":19,"publisher":"Massachusetts Medical Society","issue":"23","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["N Engl J Med"],"published-print":{"date-parts":[[2012,12,6]]},"DOI":"10.1056\/nejmoa1208594","type":"journal-article","created":{"date-parts":[[2012,12,6]],"date-time":"2012-12-06T00:35:29Z","timestamp":1354754129000},"page":"2226-2232","source":"Crossref","is-referenced-by-count":178,"title":["Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample"],"prefix":"10.1056","volume":"367","author":[{"given":"Michael E.","family":"Talkowski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zehra","family":"Ordulu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vamsee","family":"Pillalamarri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol B.","family":"Benson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Blumenthal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Connolly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie","family":"Hanscom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naveed","family":"Hussain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahrin","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Picker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa G.","family":"Shaffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise E.","family":"Wilkins-Haug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Gusella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia C.","family":"Morton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"150","reference":[{"key":"r001","first-page":"1","volume":"57","year":"2008","journal-title":"MMWR Morb Mortal Wkly Rep"},{"key":"r002","first-page":"995","volume":"49","author":"Warburton D","year":"1991","journal-title":"Am J Hum Genet"},{"key":"r003","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1136\/jms.5.1.6","volume":"5","author":"Long G","year":"1998","journal-title":"J Med Screen"},{"key":"r004","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0b013e3181c33cad"},{"key":"r005","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.03.015"},{"key":"r006","doi-asserted-by":"publisher","DOI":"10.1126\/science.1149504"},{"key":"r007","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.03.013"},{"key":"r008","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"r009","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2202"},{"key":"r010","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.09.011"},{"key":"r011","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.03.028"},{"key":"r012","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22086"},{"key":"r013","doi-asserted-by":"publisher","DOI":"10.1038\/ng.294"},{"key":"r014","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"r015","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80454-4"},{"key":"r016","doi-asserted-by":"publisher","DOI":"10.1101\/gr.086983.108"},{"key":"r017","doi-asserted-by":"publisher","DOI":"10.1038\/ng.555"},{"key":"r018","doi-asserted-by":"publisher","DOI":"10.1101\/gr.083501.108"},{"key":"r019","doi-asserted-by":"publisher","DOI":"10.1007\/s00540-009-0791-y"}],"container-title":["New England Journal of Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nejm.org\/doi\/pdf\/10.1056\/NEJMoa1208594","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,6]],"date-time":"2019-07-06T18:44:43Z","timestamp":1562438683000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.nejm.org\/doi\/abs\/10.1056\/NEJMoa1208594"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12,6]]},"references-count":19,"journal-issue":{"issue":"23","published-print":{"date-parts":[[2012,12,6]]}},"alternative-id":["10.1056\/NEJMoa1208594"],"URL":"https:\/\/doi.org\/10.1056\/nejmoa1208594","relation":{},"ISSN":["0028-4793","1533-4406"],"issn-type":[{"value":"0028-4793","type":"print"},{"value":"1533-4406","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,12,6]]}}}