{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:14:19Z","timestamp":1792804459770,"version":"4.5.0"},"reference-count":98,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"6114","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[2012,12,21]]},"abstract":"<jats:title>Autism Genes, Again and Again<\/jats:title>\n                  <jats:p>\n                    Despite recent advances in sequencing technologies and their lowered costs\u2014effective, highly sensitive, and specific sequencing of multiple genes of interest from large cohorts remains expensive.\n                    <jats:bold>\n                      O'Roak\n                      <jats:italic>et al.<\/jats:italic>\n                    <\/jats:bold>\n                    (p.\n                    <jats:related-article xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"doi\" page=\"1619\" related-article-type=\"in-this-issue\" vol=\"338\" xlink:href=\"10.1126\/science.1227764\">1619<\/jats:related-article>\n                    ; published online 15 November) modified molecular inversion probe methods for target-specific capture and sequencing to resequence candidate genes in thousands of patients. The technique was applied to 44 candidate genes to identify de novo mutations in a large cohort of individuals with and without autism spectrum disorder. The analysis revealed several de novo mutations in genes that together contribute to 1% of sporadic autism spectrum disorders, supporting the notion that multiple genes underlie autism-spectrum disorders.\n                  <\/jats:p>","DOI":"10.1126\/science.1227764","type":"journal-article","created":{"date-parts":[[2012,11,16]],"date-time":"2012-11-16T20:18:32Z","timestamp":1353097112000},"page":"1619-1622","source":"Crossref","is-referenced-by-count":1181,"title":["Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders"],"prefix":"10.1126","volume":"338","author":[{"given":"Brian J.","family":"O\u2019Roak","sequence":"first","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Vives","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington 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