{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:56:05Z","timestamp":1791230165463,"version":"4.1.0"},"reference-count":55,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"6419","funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT098051"],"award-info":[{"award-number":["WT098051"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[2018,12,7]]},"abstract":"<jats:title>Genetic architecture of developmental disorders<\/jats:title>\n                  <jats:p>\n                    The genetics of developmental disorders (DDs) is complex. Martin\n                    <jats:italic>et al.<\/jats:italic>\n                    wanted to determine the degree of recessive inheritance of DDs in protein-coding genes. They examined the exomes of more than 6000 families in populations with high and low proportions of consanguineous marriages. They found that 3.6% of DDs in individuals of European ancestry involved recessive coding disorders, less than a tenth of the levels previously estimated. Furthermore, among South Asians with high parental relatedness, rather than most of the disorders arising from inherited variants, fewer than half had a recessive coding diagnosis.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Science<\/jats:italic>\n                    , this issue p.\n                    <jats:related-article xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"doi\" issue=\"6419\" page=\"1161\" related-article-type=\"in-this-issue\" vol=\"362\" xlink:href=\"10.1126\/science.aar6731\">1161<\/jats:related-article>\n                  <\/jats:p>","DOI":"10.1126\/science.aar6731","type":"journal-article","created":{"date-parts":[[2018,11,8]],"date-time":"2018-11-08T14:05:11Z","timestamp":1541685911000},"page":"1161-1164","source":"Crossref","is-referenced-by-count":203,"title":["Quantifying the contribution of recessive coding variation to developmental disorders"],"prefix":"10.1126","volume":"362","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4454-9084","authenticated-orcid":true,"given":"Hilary C.","family":"Martin","sequence":"first","affiliation":[{"name":"Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4017-3806","authenticated-orcid":true,"given":"Wendy D.","family":"Jones","sequence":"additional","affiliation":[{"name":"Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK."},{"name":"Great Ormond Street Hospital for Children, National Health Service (NHS) Foundation Trust, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5291-1533","authenticated-orcid":true,"given":"Rebecca","family":"McIntyre","sequence":"additional","affiliation":[{"name":"Wellcome Trust 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