{"id":39826,"date":"2023-02-03T12:42:39","date_gmt":"2023-02-03T17:42:39","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/2023\/02\/03\/nouvelle-liste-de-variantes-genetiques-dans-simons-searchlight-2\/"},"modified":"2024-01-29T10:01:39","modified_gmt":"2024-01-29T15:01:39","slug":"nouvelle-liste-de-variantes-genetiques-dans-simons-searchlight-2","status":"publish","type":"post","link":"https:\/\/www.simonssearchlight.org\/fr\/2023\/02\/03\/nouvelle-liste-de-variantes-genetiques-dans-simons-searchlight-2\/","title":{"rendered":"Nouvelle liste de variantes g\u00e9n\u00e9tiques dans Simons Searchlight"},"content":{"rendered":"<p>Nous avons publi\u00e9 une nouvelle liste de variantes g\u00e9n\u00e9tiques de <span class=\"notranslate\">Simons Searchlight<\/span>. Cette liste comprend 2 808 personnes atteintes d&#8217;une maladie g\u00e9n\u00e9tique, soit 739 de plus que lors de la derni\u00e8re publication en ao\u00fbt 2022 ! En outre, de nouvelles communaut\u00e9s g\u00e9n\u00e9tiques figurent sur la liste, avec suffisamment de personnes pour \u00eatre communiqu\u00e9es \u00e0 la communaut\u00e9 des chercheurs. Il s&#8217;agit de 28 <strong>NOUVELLES<\/strong> conditions g\u00e9n\u00e9tiques :<\/p>\n<ul>\n<li>d\u00e9l\u00e9tion 2p16.3<\/li>\n<li>15q11.2 d\u00e9l\u00e9tion BP1-BP2<\/li>\n<li>Duplication du g\u00e8ne 17q12<\/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>C&#8217;est <strong>VOTRE<\/strong> contribution \u00e0 l&#8217;\u00e9largissement de la participation \u00e0 <span class=\"notranslate\">Simons Searchlight<\/span>. <a href=\"https:\/\/www.sfari.org\/resource\/simons-searchlight\/\" target=\"_blank\" rel=\"noopener\" data-cke-saved-href=\"https:\/\/www.sfari.org\/resource\/simons-searchlight\/\">Poursuivez votre lecture<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Nous avons publi\u00e9 une nouvelle liste de variantes g\u00e9n\u00e9tiques de Simons Searchlight.<\/p>\n","protected":false},"author":18,"featured_media":39832,"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":[196],"tags":[],"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/posts\/39826"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/users\/18"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/comments?post=39826"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/posts\/39826\/revisions"}],"predecessor-version":[{"id":39834,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/posts\/39826\/revisions\/39834"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media\/39832"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=39826"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/categories?post=39826"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/tags?post=39826"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}