{"id":6121,"date":"2019-09-25T08:50:16","date_gmt":"2019-09-25T12:50:16","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=6121"},"modified":"2019-09-25T08:50:16","modified_gmt":"2019-09-25T12:50:16","slug":"6121-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/dyrk1a-2\/6121-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Clinical whole-exome sequencing for the diagnosis of Mendelian disorders<\/strong><\/h2>\n<p>Original research article by Y. Yang\u00a0<em>et al.<\/em> (2013).<\/p>\n<p>Read the article <a href=\"http:\/\/www.nejm.org\/doi\/full\/10.1056\/NEJMoa1306555\">here<\/a>.<\/p>\n<p>In this study, a test called whole-exome sequencing was used to search for genetic causes to unexplained developmental delay, intellectual disability, and neurological differences in 250 children. Of these 250 children, about 25% were identified to have a genetic change that explained their diagnosis; including one child with intellectual disability and autism who had a change in the\u00a0<em>DYRK1A\u00a0<\/em>gene that was not inherited from either parent (de novo).<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Clinical whole-exome sequencing for the diagnosis of Mendelian disorders Original research article by Y. Yang\u00a0et al. (2013). Read the article here. In this study, a test called whole-exome sequencing was used to search for genetic causes to unexplained developmental delay, intellectual disability, and neurological differences in 250 children. Of these 250 children, about 25% were [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":495,"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\/6121"}],"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=6121"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6121\/revisions"}],"predecessor-version":[{"id":6122,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6121\/revisions\/6122"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/495"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=6121"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}