{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T21:29:03Z","timestamp":1790976543099,"version":"4.1.0"},"reference-count":72,"publisher":"Massachusetts Medical Society","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["N Engl J Med"],"published-print":{"date-parts":[[2010,8,26]]},"DOI":"10.1056\/nejmra0907180","type":"journal-article","created":{"date-parts":[[2010,8,25]],"date-time":"2010-08-25T21:02:26Z","timestamp":1282770146000},"page":"852-863","source":"Crossref","is-referenced-by-count":70,"title":["New Therapeutic Approaches to Mendelian Disorders"],"prefix":"10.1056","volume":"363","author":[{"given":"Harry C.","family":"Dietz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"150","reference":[{"key":"r001","doi-asserted-by":"publisher","DOI":"10.1007\/s12026-009-8107-8"},{"key":"r002","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0805817"},{"key":"r003","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2006.12.009"},{"key":"r004","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2009.086"},{"key":"r005","doi-asserted-by":"publisher","DOI":"10.1126\/science.162.3853.570"},{"key":"r006","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(72)90310-5"},{"key":"r007","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112262"},{"key":"r008","first-page":"2686","volume":"118","author":"Ponder KP","year":"2008","journal-title":"J Clin Invest"},{"key":"r009","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0305480101"},{"key":"r010","doi-asserted-by":"publisher","DOI":"10.1517\/17425240902887029"},{"key":"r011","doi-asserted-by":"publisher","DOI":"10.2174\/138161208784705504"},{"key":"r012","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0706898"},{"key":"r013","doi-asserted-by":"publisher","DOI":"10.1038\/nature01629"},{"key":"r014","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0505767102"},{"key":"r015","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2007.11.003"},{"key":"r016","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0807840105"},{"key":"r017","doi-asserted-by":"publisher","DOI":"10.1038\/ng1116"},{"key":"r018","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.med.59.103106.103801"},{"key":"r019","doi-asserted-by":"publisher","DOI":"10.1126\/science.1124287"},{"key":"r020","doi-asserted-by":"publisher","DOI":"10.1016\/j.ahj.2007.06.024"},{"key":"r021","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0706585"},{"key":"r022","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.108.841981"},{"key":"r023","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.108.174367"},{"key":"r024","doi-asserted-by":"publisher","DOI":"10.1016\/j.jvs.2007.09.016"},{"key":"r025","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa055695"},{"key":"r026","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"},{"key":"r027","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000260181.19449.95"},{"key":"r028","doi-asserted-by":"publisher","DOI":"10.1038\/ng1764"},{"key":"r029","doi-asserted-by":"publisher","DOI":"10.1002\/path.2516"},{"key":"r030","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-07-077958"},{"key":"r031","doi-asserted-by":"publisher","DOI":"10.1172\/JCI9083"},{"key":"r032","doi-asserted-by":"publisher","DOI":"10.1016\/j.tips.2009.02.002"},{"key":"r033","doi-asserted-by":"publisher","DOI":"10.1007\/BF00731489"},{"key":"r034","doi-asserted-by":"publisher","DOI":"10.1185\/03007990802576518"},{"key":"r035","doi-asserted-by":"publisher","DOI":"10.1002\/pds.1779"},{"key":"r036","doi-asserted-by":"crossref","first-page":"425","DOI":"10.2147\/TCRM.S6865","volume":"4","author":"Ficicioglu C","year":"2008","journal-title":"Ther Clin Risk Manag"},{"key":"r037","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2009.008078"},{"key":"r038","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21491"},{"key":"r039","doi-asserted-by":"publisher","DOI":"10.1515\/BC.2008.009"},{"key":"r040","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.12.008"},{"key":"r041","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.0060026"},{"key":"r042","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2008.06.037"},{"key":"r043","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.10.1893"},{"key":"r044","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/13.17.6265"},{"key":"r045","doi-asserted-by":"publisher","DOI":"10.1038\/nm0496-467"},{"key":"r046","doi-asserted-by":"publisher","DOI":"10.1038\/nm1197-1280"},{"key":"r047","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2000.0436"},{"key":"r048","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.3.291"},{"key":"r049","doi-asserted-by":"publisher","DOI":"10.1172\/JCI7866"},{"key":"r050","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10341"},{"key":"r051","first-page":"15","volume":"22","author":"Politano L","year":"2003","journal-title":"Acta Myol"},{"key":"r052","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1023"},{"key":"r053","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa022170"},{"key":"r054","doi-asserted-by":"publisher","DOI":"10.1165\/rcmb.2006-0173OC"},{"key":"r055","doi-asserted-by":"publisher","DOI":"10.1177\/0091270006297140"},{"key":"r056","doi-asserted-by":"publisher","DOI":"10.1038\/nature05756"},{"key":"r057","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0711795105"},{"key":"r058","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61168-X"},{"key":"r059","doi-asserted-by":"publisher","DOI":"10.1101\/gad.5.12a.2303"},{"key":"r060","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.10.11.3971"},{"key":"r061","doi-asserted-by":"publisher","DOI":"10.1126\/science.1067338"},{"key":"r062","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0813345106"},{"key":"r063","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.05.011"},{"key":"r064","doi-asserted-by":"publisher","DOI":"10.1038\/nm897"},{"key":"r065","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.011408598"},{"key":"r066","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa073108"},{"key":"r067","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2009.38"},{"key":"r068","doi-asserted-by":"publisher","DOI":"10.1086\/381039"},{"key":"r069","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20918"},{"key":"r070","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0812584106"},{"key":"r071","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcibr0810347"},{"key":"r072","doi-asserted-by":"publisher","DOI":"10.1038\/ni0209-134"}],"container-title":["New England Journal of Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nejm.org\/doi\/pdf\/10.1056\/NEJMra0907180","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,7,31]],"date-time":"2017-07-31T20:52:14Z","timestamp":1501534334000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.nejm.org\/doi\/10.1056\/NEJMra0907180"}},"subtitle":[],"editor":[{"given":"W. Gregory","family":"Feero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]},{"given":"Alan E.","family":"Guttmacher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2010,8,26]]},"references-count":72,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2010,8,26]]}},"alternative-id":["10.1056\/NEJMra0907180"],"URL":"https:\/\/doi.org\/10.1056\/nejmra0907180","relation":{},"ISSN":["0028-4793","1533-4406"],"issn-type":[{"value":"0028-4793","type":"print"},{"value":"1533-4406","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,26]]}}}