{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T14:58:53Z","timestamp":1772117933194,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,6,5]],"date-time":"2017-06-05T00:00:00Z","timestamp":1496620800000},"content-version":"am","delay-in-days":365,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#am"},{"start":{"date-parts":[[2016,6,5]],"date-time":"2016-06-05T00:00:00Z","timestamp":1465084800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["25293235"],"award-info":[{"award-number":["25293235"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["26461549"],"award-info":[{"award-number":["26461549"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002241","name":"Japan Science and Technology Agency","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002241","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","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":[[2016,10]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Coffin\u2013Siris syndrome is a rare congenital malformation and intellectual disability syndrome. Mutations in at least seven genes have been identified. Here, we performed copy number analysis in 37 patients with features of CSS in whom no causative mutations were identified by exome sequencing. We identified a patient with a 9p24.3\u2013p22.2 duplication and another patient with the chromosome der(6)t(6;9)(p25;p21)mat. Both patients share a duplicated 15.8\u2010Mb region containing 46 protein coding genes, including\n                      <jats:italic>SMARCA2<\/jats:italic>\n                      . Dominant negative effects of\n                      <jats:italic>SMARCA2<\/jats:italic>\n                      mutations may contribute to Nicolaides\u2013Baraitser syndrome. We conclude that their features better resemble Coffin\u2013Siris syndrome, rather than Nicolaides\u2013Baraitser syndrome and that these features likely arise from\n                      <jats:italic>SMARCA2<\/jats:italic>\n                      over\u2010dosage. Pure 9p duplications (not caused by unbalanced translocations) are rare. Copy number analysis in patients with features that overlap with Coffin\u2013Siris syndrome is recommended to further determine their genetic aspects. \u00a9 2016 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37778","type":"journal-article","created":{"date-parts":[[2016,6,5]],"date-time":"2016-06-05T23:58:56Z","timestamp":1465171136000},"page":"2662-2670","source":"Crossref","is-referenced-by-count":15,"title":["Clinical features of\n                    <i>SMARCA2<\/i>\n                    duplication overlap with Coffin\u2013Siris syndrome"],"prefix":"10.1002","volume":"170","author":[{"given":"Noriko","family":"Miyake","sequence":"first","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghada","family":"Abdel\u2010Salam","sequence":"additional","affiliation":[{"name":"Clinical 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