{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:49:07Z","timestamp":1787503747487,"version":"build-2736575974"},"reference-count":41,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,11,23]],"date-time":"2017-11-23T00:00:00Z","timestamp":1511395200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["DE018227\u201010"],"award-info":[{"award-number":["DE018227\u201010"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      We report RNA\u2010Sequencing results on a cohort of patients with single suture craniosynostosis and demonstrate significant enrichment of heterozygous, rare, and damaging variants among key craniosynostosis\u2010related genes. Genetic burden analysis identified a significant increase in damaging variants in\n                      <jats:italic>ATR<\/jats:italic>\n                      ,\n                      <jats:italic>EFNA4<\/jats:italic>\n                      ,\n                      <jats:italic>ERF<\/jats:italic>\n                      ,\n                      <jats:italic>MEGF8<\/jats:italic>\n                      ,\n                      <jats:italic>SCARF2<\/jats:italic>\n                      , and\n                      <jats:italic>TGFBR2<\/jats:italic>\n                      . Of 391 participants, 15% were found to have damaging and potentially causal variants in 29 genes. We observed transmission in 96% of the affected individuals, and thus penetrance, epigenetics, and oligogenic factors need to be considered when recommending genetic testing in patients with nonsyndromic craniosynostosis.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.38540","type":"journal-article","created":{"date-parts":[[2017,11,23]],"date-time":"2017-11-23T00:34:48Z","timestamp":1511397288000},"page":"290-300","source":"Crossref","is-referenced-by-count":39,"title":["Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms"],"prefix":"10.1002","volume":"176","author":[{"given":"Christine M.","family":"Clarke","sequence":"first","affiliation":[{"name":"Center for Developmental Biology and Regenerative Medicine Seattle Children's Research Institute Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent 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