{"id":6045,"date":"2019-09-24T07:35:28","date_gmt":"2019-09-24T11:35:28","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=6045"},"modified":"2019-09-24T12:16:20","modified_gmt":"2019-09-24T16:16:20","slug":"6045-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/chd8-2\/6045-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders<\/strong><\/h2>\n<p>Original research article by B. O&#8217;Roak\u00a0<em>et al.<\/em> (2012).<\/p>\n<p>Read the abstract <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23160955\">here<\/a>.<\/p>\n<p>The researchers performed whole exome sequencing on members of 209 families (677 people) who participated in the <span class=\"notranslate\">Simons Foundation<\/span>\u2019s Simons Simplex Collection, which includes children with autism and intellectual disability. The study identified over 100 new genes that may be related to developmental delay, intellectual disability, or features of autism. Initially, changes in only two <em>genes\u2014CHD8<\/em> and <em>NTNG1\u2014were<\/em> found in more than one person.\u00a0Further analysis of <em>FOXP1, GRIN2B, LAMC3, SCN1A, FOXP2<\/em>, and <em>GRIN2A<\/em> found additional changes in <em>GRIN2B, LAMC3<\/em> and <em>SCN1A.<\/em> Several\u00a0de novo\u00a0(not inherited from either parent) damaging changes in <em>CHD8<\/em> were identified in the samples, while no damaging changes were identified in over 3,000 control samples.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders Original research article by B. O&#8217;Roak\u00a0et al. (2012). Read the abstract here. The researchers performed whole exome sequencing on members of 209 families (677 people) who participated in the Simons Foundation\u2019s Simons Simplex Collection, which includes children with autism and intellectual disability. The study [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":425,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6045"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/comments?post=6045"}],"version-history":[{"count":2,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6045\/revisions"}],"predecessor-version":[{"id":6087,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6045\/revisions\/6087"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/425"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=6045"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}