{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T15:18:23Z","timestamp":1791299903385,"version":"4.1.0"},"reference-count":36,"publisher":"Massachusetts Medical Society","issue":"13","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["N Engl J Med"],"published-print":{"date-parts":[[2010,4]]},"DOI":"10.1056\/nejmoa0908094","type":"journal-article","created":{"date-parts":[[2010,3,10]],"date-time":"2010-03-10T23:17:15Z","timestamp":1268263035000},"page":"1181-1191","source":"Crossref","is-referenced-by-count":640,"title":["Whole-Genome Sequencing in a Patient with Charcot\u2013Marie\u2013Tooth Neuropathy"],"prefix":"10.1056","volume":"362","author":[{"given":"James R.","family":"Lupski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey G.","family":"Reid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Gonzaga-Jauregui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Rio Deiros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David C.Y.","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynne","family":"Nazareth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Bainbridge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huyen","family":"Dinh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chyn","family":"Jing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Wheeler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy L.","family":"McGuire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawel","family":"Stankiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John J.","family":"Halperin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chengyong","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Curtis","family":"Gehman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danwei","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rola K.","family":"Irikat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Warren","family":"Tom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick J.","family":"Fantin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"Muzny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Gibbs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"150","reference":[{"key":"r001","doi-asserted-by":"publisher","DOI":"10.1126\/science.2772657"},{"key":"r002","doi-asserted-by":"publisher","DOI":"10.1126\/science.2134734"},{"key":"r003","doi-asserted-by":"publisher","DOI":"10.1126\/science.8202715"},{"key":"r004","doi-asserted-by":"publisher","DOI":"10.1126\/science.1063525"},{"key":"r005","doi-asserted-by":"publisher","DOI":"10.1086\/302938"},{"key":"r006","doi-asserted-by":"publisher","DOI":"10.1038\/nrg910"},{"key":"r007","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1939.00180230108008"},{"key":"r008","doi-asserted-by":"publisher","DOI":"10.1007\/BF02983018"},{"key":"r009","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000336370.51010.a1"},{"key":"r010","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcibr067658"},{"key":"r011","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199307083290205"},{"key":"r012","doi-asserted-by":"publisher","DOI":"10.1101\/gr.091868.109"},{"key":"r013","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1007\/s100720300072","volume":"24","author":"Del Colle R","year":"2003","journal-title":"Neurol Sci"},{"key":"r014","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90613-4"},{"key":"r015","doi-asserted-by":"publisher","DOI":"10.1038\/nature03001"},{"key":"r016","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.0050254"},{"key":"r017","doi-asserted-by":"publisher","DOI":"10.1038\/nature06884"},{"key":"r018","doi-asserted-by":"publisher","DOI":"10.1038\/nature07517"},{"key":"r019","doi-asserted-by":"publisher","DOI":"10.1038\/nature07484"},{"key":"r020","doi-asserted-by":"publisher","DOI":"10.1101\/gr.092197.109"},{"key":"r021","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1038\/nature08211","volume":"460","author":"Kim JI","year":"2009","journal-title":"Nature"},{"key":"r022","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1149"},{"key":"r023","doi-asserted-by":"publisher","DOI":"10.1086\/379525"},{"key":"r024","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000230225.19797.93"},{"key":"r025","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.034132"},{"key":"r026","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth1111"},{"key":"r027","doi-asserted-by":"publisher","DOI":"10.1038\/ng.499"},{"key":"r028","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0905523106"},{"key":"r029","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp565"},{"key":"r030","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp427"},{"key":"r032","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-005-0217-4"},{"key":"r033","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1077085"},{"key":"r034","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.63.1.112"},{"key":"r035","doi-asserted-by":"publisher","DOI":"10.1038\/ng1093-189"},{"key":"r036","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20777"},{"key":"r037","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1212\/01.WNL.0000142082.65144.EE","volume":"63","author":"Verny C","year":"2004","journal-title":"Neurology"}],"container-title":["New England Journal of Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nejm.org\/doi\/pdf\/10.1056\/NEJMoa0908094","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,6,2]],"date-time":"2020-06-02T19:24:42Z","timestamp":1591125882000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.nejm.org\/doi\/abs\/10.1056\/NEJMoa0908094"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,4]]},"references-count":36,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2010,4]]}},"alternative-id":["10.1056\/NEJMoa0908094"],"URL":"https:\/\/doi.org\/10.1056\/nejmoa0908094","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.2521959.2544054","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.2521959.2302065","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.2521959.2167059","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.2521959.2602056","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.2521959.2173054","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.2521959.2322055","asserted-by":"object"}]},"ISSN":["0028-4793","1533-4406"],"issn-type":[{"value":"0028-4793","type":"print"},{"value":"1533-4406","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,4]]}}}