{"id":59336,"date":"2025-01-25T12:57:32","date_gmt":"2025-01-25T17:57:32","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?p=59336"},"modified":"2025-01-30T13:12:03","modified_gmt":"2025-01-30T18:12:03","slug":"new-quarterly-data-reports-january-2025","status":"publish","type":"post","link":"https:\/\/www.simonssearchlight.org\/2025\/01\/25\/new-quarterly-data-reports-january-2025\/","title":{"rendered":"New Quarterly Data Reports &#8211; January 2025"},"content":{"rendered":"<h4>Our latest January 2025 Quarterly Reports feature updated insights from <span class=\"notranslate\">Simons Searchlight<\/span> participants across 66 genetic communities (full list below).<\/h4>\n<h3>About This Report<\/h3>\n<p>These reports highlight the latest information contributed by families and key findings from the 2024 research surveys. They demonstrate how participation helps researchers gain a deeper understanding of each genetic community and supports progress in scientific discovery.<\/p>\n<h3>Find Your Report<\/h3>\n<p>Your quarterly report is posted on your <span class=\"notranslate\">Simons Searchlight<\/span> webpage (find your gene webpage): <a href=\"http:\/\/bit.ly\/Genes_We_Study\">bit.ly\/Genes_We_Study<\/a><\/p>\n<h3>Share This Resource<\/h3>\n<p>Families are encouraged to share these reports with medical providers, educators, and others who may find them helpful.<\/p>\n<h3>Keep Contributing<\/h3>\n<p>We are grateful to all the families and patient advocacy partners who make this work possible. Your contributions help drive research forward and expand understanding of these genetic conditions. <span style=\"font-weight: 400;\">Please don&#8217;t forget to check your<\/span><a href=\"https:\/\/bit.ly\/Simons_Searchlight_Dashboard\"> <span style=\"font-weight: 400;\">dashboard<\/span><\/a><span style=\"font-weight: 400;\"> regularly for new surveys to help share your knowledge with <span class=\"notranslate\">Simons Searchlight<\/span>.<\/span><\/p>\n<h3>Genetic Communities With Reports:<\/h3>\n<p>&#8211; 15q11.2 BP1-BP2 deletion<br \/>\n&#8211; 15q13.3 deletion<br \/>\n&#8211; 16p11.2 deletion<br \/>\n&#8211; 16p11.2 duplication<br \/>\n&#8211; 16p13.11 deletion<br \/>\n&#8211; 1q21.1 deletion<br \/>\n&#8211; 1q21.1 duplication<br \/>\n&#8211; 2p16.3 deletion_NRXN1<br \/>\n&#8211; 5p deletion<br \/>\n&#8211; 7q11.23 duplication<br \/>\n&#8211; ADNP<br \/>\n&#8211; ANK2<br \/>\n&#8211; ANKRD11<br \/>\n&#8211; ARID1B<br \/>\n&#8211; ASXL3<br \/>\n&#8211; ATRX<br \/>\n&#8211; CHAMP1<br \/>\n&#8211; CHD2<br \/>\n&#8211; CHD8<br \/>\n&#8211; CLCN4<br \/>\n&#8211; CSNK2A1<br \/>\n&#8211; CSNK2B<br \/>\n&#8211; CTNNB1<br \/>\n&#8211; CUL3<br \/>\n&#8211; DEAF1 (Vulto-van Silfout-de Vries syndrome)<br \/>\n&#8211; Distal 16p11.2 deletion<br \/>\n&#8211; Distal 16p11.2 duplication<br \/>\n&#8211; DLG4<br \/>\n&#8211; DYNC1H1<br \/>\n&#8211; DYRK1A<br \/>\n&#8211; EHMT1<br \/>\n&#8211; FOXP1<br \/>\n&#8211; GRIN1<br \/>\n&#8211; GRIN2A<br \/>\n&#8211; GRIN2B<br \/>\n&#8211; HIVEP2<br \/>\n&#8211; HNRNPH2<br \/>\n&#8211; IRF2BPL<br \/>\n&#8211; KDM6B<br \/>\n&#8211; KdVS (17q21.31 del &amp; KANSL1)<br \/>\n&#8211; KMT2C<br \/>\n&#8211; KMT2E<br \/>\n&#8211; MED13L<br \/>\n&#8211; MEF2C<br \/>\n&#8211; NAA15<br \/>\n&#8211; PACS1<br \/>\n&#8211; POGZ<br \/>\n&#8211; PPP2R1A<br \/>\n&#8211; PPP2R5D<br \/>\n&#8211; PPP3CA<br \/>\n&#8211; SCN2A<br \/>\n&#8211; SETBP1<br \/>\n&#8211; SETD5<br \/>\n&#8211; SLC6A1<br \/>\n&#8211; STXBP1<br \/>\n&#8211; SYNGAP1<br \/>\n&#8211; TANC2<br \/>\n&#8211; TBR1<br \/>\n&#8211; TLK2<br \/>\n&#8211; TRIO<br \/>\n&#8211; TRIP12<br \/>\n&#8211; WDFY3<br \/>\n&#8211; ZNF292<\/p>\n<p><strong>3 new groups:<\/strong><\/p>\n<p>&#8211; AUTS2<br \/>\n&#8211; EIF3F<br \/>\n&#8211; MED13<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Our latest report offers updated insights and fresh data on Simons Searchlight participants.<\/p>\n","protected":false},"author":18,"featured_media":11974,"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":[26],"tags":[],"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts\/59336"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/users\/18"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/comments?post=59336"}],"version-history":[{"count":7,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts\/59336\/revisions"}],"predecessor-version":[{"id":59343,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/posts\/59336\/revisions\/59343"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media\/11974"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=59336"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/categories?post=59336"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/tags?post=59336"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}