{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T17:11:29Z","timestamp":1790269889140,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,11,13]],"date-time":"2014-11-13T00:00:00Z","timestamp":1415836800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:p>We developed a next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>) based mutation screening strategy for neurodevelopmental diseases. Using this system, we screened 284 genes in 40 patients. Several novel mutations were discovered. Patient 1 had a novel mutation in <jats:italic><jats:styled-content style=\"fixed-case\">ACTB<\/jats:styled-content><\/jats:italic>. Her dysmorphic feature was mild for Baraitser\u2010Winter syndrome. Patient 2 had a truncating mutation of <jats:italic><jats:styled-content style=\"fixed-case\">DYRK1A<\/jats:styled-content><\/jats:italic>. She lacked microcephaly, which was previously assumed to be a constant feature of <jats:italic><jats:styled-content style=\"fixed-case\">DYRK1A<\/jats:styled-content><\/jats:italic> loss of function. Patient 3 had a novel mutation in <jats:italic><jats:styled-content style=\"fixed-case\">GABRD<\/jats:styled-content><\/jats:italic> gene. She showed Rett syndrome like features. Patient 4 was diagnosed with Noonan syndrome with <jats:italic><jats:styled-content style=\"fixed-case\">PTPN11<\/jats:styled-content><\/jats:italic> mutation. He showed complete agenesis of corpus callosum. We have discussed these novel findings.<\/jats:p>","DOI":"10.1111\/cge.12492","type":"journal-article","created":{"date-parts":[[2014,8,25]],"date-time":"2014-08-25T10:49:53Z","timestamp":1408963793000},"page":"288-292","source":"Crossref","is-referenced-by-count":35,"title":["Targeted next\u2010generation sequencing in the diagnosis of neurodevelopmental disorders"],"prefix":"10.1111","volume":"88","author":[{"given":"N.","family":"Okamoto","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Osaka Medical Center and Research Institute for Maternal and Child Health  Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Miya","sequence":"additional","affiliation":[{"name":"Laboratory for Medical Science Mathematics Center for Integrative Medical Sciences, RIKEN  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Tsunoda","sequence":"additional","affiliation":[{"name":"Laboratory for 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Medical University  Iwate Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Torii","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Kanemura","sequence":"additional","affiliation":[{"name":"Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital National Hospital Organization  Osaka Japan"},{"name":"Department of Neurosurgery, Osaka National Hospital National Hospital Organization  Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine  Tokyo 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