{"id":42705,"date":"2023-02-03T12:42:39","date_gmt":"2023-02-03T17:42:39","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/2023\/02\/03\/nieuwe-lijst-met-genetische-varianten-in-simons-zoeklicht-2\/"},"modified":"2024-02-15T14:17:52","modified_gmt":"2024-02-15T19:17:52","slug":"nieuwe-lijst-met-genetische-varianten-in-simons-zoeklicht-2","status":"publish","type":"post","link":"https:\/\/www.simonssearchlight.org\/nl\/2023\/02\/03\/nieuwe-lijst-met-genetische-varianten-in-simons-zoeklicht-2\/","title":{"rendered":"Nieuwe lijst met genetische varianten in Simons Zoeklicht"},"content":{"rendered":"<p>We hebben een nieuwe lijst met genetische varianten gepubliceerd in <span class=\"notranslate\">Simons Searchlight<\/span>. Deze lijst bevat 2.808 personen met een genetische aandoening &#8211; dat zijn er 739 meer dan de laatste publicatie in augustus 2022! Daarnaast staan er nieuwe genetische gemeenschappen op de lijst met genoeg mensen om vrijgegeven te worden aan de onderzoeksgemeenschap. Dit omvat 28 <strong>NIEUWE<\/strong> genetische aandoeningen:<\/p>\n<ul>\n<li>2p16.3 deletie<\/li>\n<li>15q11.2 BP1-BP2-deletie<\/li>\n<li>17q12 duplicatie<\/li>\n<li>BRSK2<\/li>\n<li>CLCN4<\/li>\n<li>CSDE1<\/li>\n<li>CTBP1<\/li>\n<li>DLG4<\/li>\n<li>DYNC1H1<\/li>\n<li>EIF3F<\/li>\n<li>GIGYF1<\/li>\n<li>HECW2<\/li>\n<li>KMT5B<\/li>\n<li>MEF2C<\/li>\n<li>NEXMIF<\/li>\n<li>SCN1A<\/li>\n<li>SMARCA4<\/li>\n<li>SMARCC2<\/li>\n<li>SOX5<\/li>\n<li>TCF20<\/li>\n<li>TRIO<\/li>\n<li>UPF3B<\/li>\n<li>USP9X<\/li>\n<\/ul>\n<p>Dit is <strong>JOUW<\/strong> prestatie in het helpen uitbreiden van deelname aan Simons Zoeklicht. <a href=\"https:\/\/www.sfari.org\/resource\/simons-searchlight\/\" target=\"_blank\" rel=\"noopener\" data-cke-saved-href=\"https:\/\/www.sfari.org\/resource\/simons-searchlight\/\">Blijf lezen<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>We hebben een nieuwe lijst met genetische varianten gepubliceerd in Simons Searchlight.<\/p>\n","protected":false},"author":18,"featured_media":42717,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","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":""},"categories":[278],"tags":[],"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/posts\/42705"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/users\/18"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/comments?post=42705"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/posts\/42705\/revisions"}],"predecessor-version":[{"id":42720,"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/posts\/42705\/revisions\/42720"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/media\/42717"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/media?parent=42705"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/categories?post=42705"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/nl\/wp-json\/wp\/v2\/tags?post=42705"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}