{"id":1808,"date":"2017-03-19T11:11:06","date_gmt":"2017-03-19T10:11:06","guid":{"rendered":"https:\/\/2017.eshg.org\/?page_id=1808"},"modified":"2019-06-14T14:59:36","modified_gmt":"2019-06-14T13:59:36","slug":"saturday","status":"publish","type":"page","link":"https:\/\/2019.eshg.org\/index.php\/programme\/saturday\/","title":{"rendered":"Saturday, June 15"},"content":{"rendered":"<p><div class=\"fusion-fullwidth fullwidth-box nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\"  style='background-color: #ffffff;background-position: center center;background-repeat: no-repeat;padding-top:0px;padding-right:0px;padding-bottom:0px;padding-left:0px;'><div class=\"fusion-builder-row fusion-row \"><div  class=\"fusion-layout-column fusion_builder_column fusion_builder_column_1_2 fusion-builder-column-1 fusion-one-half fusion-column-first 1_2\"  style='margin-top:0px;margin-bottom:0px;'>\n\t\t\t\t\t<div class=\"fusion-column-wrapper\" style=\"padding: 0px 0px 0px 0px;background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;\"   data-bg-url=\"\">\n\t\t\t\t\t\t<div class=\"fusion-clearfix\"><\/div>\n\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div><div  class=\"fusion-layout-column fusion_builder_column fusion_builder_column_1_2 fusion-builder-column-2 fusion-one-half fusion-column-last 1_2\"  style='margin-top:0px;margin-bottom:0px;'>\n\t\t\t\t\t<div class=\"fusion-column-wrapper\" style=\"padding: 0px 0px 0px 0px;background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;\"   data-bg-url=\"\">\n\t\t\t\t\t\t<div class=\"fusion-button-wrapper fusion-alignright\"><style type=\"text\/css\" scoped=\"scoped\">.fusion-button.button-1{width:auto;}<\/style><a class=\"fusion-button button-flat fusion-button-square button-small button-lightgray button-1\" target=\"_self\" href=\"https:\/\/2019.eshg.org\/index.php\/programme\/sunday\"><span class=\"fusion-button-text fusion-button-text-right\">Sunday<\/span><span class=\"fusion-button-icon-divider button-icon-divider-right\"><i class=\"fa-angle-double-right fas\"><\/i><\/span><\/a><\/div><div class=\"fusion-menu-anchor\" id=\"E01\"><\/div><div class=\"fusion-clearfix\"><\/div>\n\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div><div  class=\"fusion-layout-column fusion_builder_column fusion_builder_column_1_1 fusion-builder-column-3 fusion-one-full fusion-column-first fusion-column-last 1_1\"  style='margin-top:10px;margin-bottom:20px;'>\n\t\t\t\t\t<div class=\"fusion-column-wrapper\" style=\"padding: 0px 0px 0px 0px;background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;\"   data-bg-url=\"\">\n\t\t\t\t\t\t<div class=\"fusion-sep-clear\"><\/div><div class=\"fusion-separator fusion-full-width-sep sep-none\" style=\"margin-left: auto;margin-right: auto;margin-top:30px;\"><\/div><div class=\"fusion-text\"><h4>08:00 &#8211; 10:00 hrs | <span style=\"color: #e27cbd;\">Educational Session E01<\/span><\/h4>\n<\/div><div class=\"fusion-menu-anchor\" id=\"E02\"><\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-1808-1 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-1808-1 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:rgba(226,124,189,0.39); }.fusion-accordian  #accordion-1808-1 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-1808-1 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-1808-1 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-1808-1 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-1808-1 .panel-title a:hover, #accordion-1808-1 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-1808-1 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-1808-1 .panel-title a:hover .fa-fusion-box { background-color: #00529c!important;border-color: #00529c!important;}<\/style><div class=\"accordian fusion-accordian\"><div class=\"panel-group\" id=\"accordion-1808-1\"><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-parent=\"#accordion-1808-1\" data-target=\"#d684cff9a1927fd9e\" href=\"#d684cff9a1927fd9e\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">E01 | Sponsored Educational Session New Technologies<\/div><\/a><\/h4><\/div><div id=\"d684cff9a1927fd9e\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chair:\u00a0\u00a0 Martin Kircher<br \/>\nRoom:\u00a0 Hall C<\/p>\n<p><a href=\"https:\/\/2019.eshg.org\/index.php\/satellite-meetings\/sponsored-session\/\">Click here for more details<\/a><\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">10:00 &#8211; 11:30 hrs |<\/span> <span style=\"color: #ffcc00;\">Corporate Satellites<\/span><\/h4>\n<p><a href=\"https:\/\/2019.eshg.org\/index.php\/satellite-meetings\/corporate-satellite-meetings#Sa10\">More information<\/a><\/p>\n<\/div><div class=\"fusion-text\"><h4>10:30 &#8211; 12:00 hrs | <span style=\"color: #e27cbd;\">Educational Sessions E02-E04<\/span> &amp; <span style=\"color: #bec1c4;\">Workshops W01-W04<\/span><\/h4>\n<\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-1808-2 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-1808-2 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:rgba(226,124,189,0.39); }.fusion-accordian  #accordion-1808-2 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-1808-2 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-1808-2 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-1808-2 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-1808-2 .panel-title a:hover, #accordion-1808-2 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-1808-2 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-1808-2 .panel-title a:hover .fa-fusion-box { background-color: #00529c!important;border-color: #00529c!important;}<\/style><div class=\"accordian fusion-accordian\"><div class=\"panel-group\" id=\"accordion-1808-2\"><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#a1ca5041125e21596\" href=\"#a1ca5041125e21596\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">E02 | Epigenetics and cancer<\/div><\/a><\/h4><\/div><div id=\"a1ca5041125e21596\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chair:\u00a0\u00a0 Carla Oliveira<br \/>\nRoom:\u00a0 K2+K3<\/p>\n<p class=\"PublishingTitle\">E02.1 Cancer Epigenetics: from DNA to RNA modifications<\/p>\n<p class=\"AuthorBlock\"><b>Fran\u00e7ois Fuks<\/b>;<br \/>\nBelgium<\/p>\n<p class=\"PublishingTitle\">E02.2 Cell-type heterogeneity and systems epigenomics of cancer<\/p>\n<p class=\"AuthorBlock\"><b>Andrew E. Teschendorff<\/b>;<br \/>\nUnited Kingdom<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#e2bd6eaa80908fddf\" href=\"#e2bd6eaa80908fddf\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">E03 | Bridging genomic discoveries and personalized medicine <\/div><\/a><\/h4><\/div><div id=\"e2bd6eaa80908fddf\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p><img loading=\"lazy\" class=\"alignnone wp-image-6695 \" src=\"https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew.png\" alt=\"\" width=\"46\" height=\"28\" srcset=\"https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew-200x120.png 200w, https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew-320x202.png 320w, https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew.png 350w\" sizes=\"(max-width: 46px) 100vw, 46px\" \/><br \/>\nChair:\u00a0\u00a0 Edward Dove<br \/>\nRoom:\u00a0 F4+F5<\/p>\n<p class=\"PublishingTitle\">E03.1 Preparing for genomic medicine: a real world demonstration of health system change<\/p>\n<p class=\"AuthorBlock\"><b>Clara Gaff<\/b>;<br \/>\nAustralia<\/p>\n<p class=\"PublishingTitle\">E03.2 Personalised Medicine and clinical practice: what it means for patients and healthcare delivery<\/p>\n<p class=\"AuthorBlock\"><b>William Newman<\/b>;<br \/>\nUnited Kingdom<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#4ae723d8c933fbc6c\" href=\"#4ae723d8c933fbc6c\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">E04 | Gene Expression Resources<\/div><\/a><\/h4><\/div><div id=\"4ae723d8c933fbc6c\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chair:\u00a0\u00a0 Maria Soller<br \/>\nRoom:\u00a0 K1<\/p>\n<p class=\"PublishingTitle\">E04.1 Using expression data to understand the genetics of disease<\/p>\n<p class=\"AuthorBlock\"><b>Alexis Battle<\/b>;<br \/>\nUnited States<\/p>\n<p class=\"PublishingTitle\">E04.2 Tissue-specific enhancer and promoter evolution in mammals<\/p>\n<p class=\"AuthorBlock\"><b>Paul Flicek<\/b>;<br \/>\nUnited Kingdom<\/p>\n<\/div><\/div><\/div><\/div><\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-1808-3 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-1808-3 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:#cccccc; }.fusion-accordian  #accordion-1808-3 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-1808-3 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-1808-3 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-1808-3 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-1808-3 .panel-title a:hover, #accordion-1808-3 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-1808-3 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-1808-3 .panel-title a:hover .fa-fusion-box { background-color: #00529c!important;border-color: #00529c!important;}<\/style><div class=\"accordian fusion-accordian\"><div class=\"panel-group\" id=\"accordion-1808-3\"><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#33ea8195b45729c93\" href=\"#33ea8195b45729c93\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W01 | NGS in the Clinic \u2013 Mistakes and Quality Assurance<\/div><\/a><\/h4><\/div><div id=\"33ea8195b45729c93\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Room:\u00a0 Hall C<\/p>\n<p><em>Workshop Organisers:\u00a0\u00a0 Gijs Santen, Helger Yntema, Weronika Gutowska-Ding<\/em><br \/>\n<strong><br \/>\nAbout the Workshop:<\/strong><\/p>\n<p>Last year the NGS in the clinic workshop had several talks about errors in bio-informatic pipelines. These talks inspired us to think about how we as a community can learn from each other\u2019s mistakes. Although it can sometimes be difficult to share mistakes with colleagues, we have to put the patient\u2019s interest first and learn from them!<\/p>\n<p>We have therefore made a questionnaire to ask the diagnostic and research community if there is a need for a platform to share pitfalls, and how we should go about this. We invite everyone interested to complete the questionnaire, which can be found here: <a href=\"https:\/\/www.research.net\/r\/NGSerrors\">https:\/\/www.research.net\/r\/NGSerrors<\/a><\/p>\n<p>The 2019 workshop will build on last year\u2019s workshop. We will start with two speakers, follow with the results of our questionnaire and end with a 45-min interactive debate on the next steps, using provocative statements to spark the discussion.<\/p>\n<p><strong>Programme Overview:<\/strong><\/p>\n<p>10:30-10:45<br \/>\n<strong>Common mistakes and challenges in clinical NGS QC\/QA<\/strong><br \/>\n<em>Christophe Roos, Euformatics Oy<\/em><\/p>\n<p>10:45-11:00<br \/>\n<strong>Bio-informatic learnings from the 100.000 genomes project<\/strong><br \/>\n<em>Michael Muller, Genomics England<\/em><\/p>\n<p>11:00-11:15<br \/>\n<strong>Presentation of questionnaire results<\/strong><\/p>\n<p>11:15-12:00<br \/>\n<strong>Discussion with statements \u2018How to use NGS mistakes to help patients\u2019<\/strong><\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#1764869d5160e2362\" href=\"#1764869d5160e2362\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W02 | Prenatal Diagnosis<\/div><\/a><\/h4><\/div><div id=\"1764869d5160e2362\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Room: F1+F2+F3<\/p>\n<p><img loading=\"lazy\" class=\"alignnone wp-image-6695 \" src=\"https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew.png\" alt=\"\" width=\"46\" height=\"28\" srcset=\"https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew-200x120.png 200w, https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew-320x202.png 320w, https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew.png 350w\" sizes=\"(max-width: 46px) 100vw, 46px\" \/><\/p>\n<p><em>Workshop Organisers:\u00a0\u00a0 Ida Vogel, Joris Vermeesch, Sam Riedijk<\/em><\/p>\n<p>10:30-10:35<br \/>\n<strong>Welcome and presentation of the workshop<\/strong><br \/>\n<em>Chair Ida Vogel<\/em><\/p>\n<p>10:35-10:45<br \/>\n<strong>Prenatal screening in US anno 2019<\/strong><br \/>\n<em>Ronald Wapner, United States<\/em><\/p>\n<p>10:45-10:55<br \/>\n<strong>Prenatal screening in Denmark anno 2019<\/strong><br \/>\n<em>Olav Bj\u00f8rn Petersen, Denmark<\/em><\/p>\n<p>10:55-11:05<br \/>\n<strong>Prenatal screening in Belgium anno 2019<\/strong><br \/>\n<em>Joris Vermeesch, Belgi<\/em>um<\/p>\n<p>11:05-11:15<br \/>\n<strong>Diversity in prenatal screening<\/strong><br \/>\n<em>Sam Riedijk, The Netherlands<\/em><\/p>\n<p>11:15-11:35<br \/>\n<strong>Panel discussion<\/strong><br \/>\nCan we ever obtain international guidelines on prenatal diagnosis after 2019?<\/p>\n<p>11:35-12:00<br \/>\n<strong>Discussion with the audience<\/strong><\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#40ffc5121b5aa6b54\" href=\"#40ffc5121b5aa6b54\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W03 | Career Development Workshop<\/div><\/a><\/h4><\/div><div id=\"40ffc5121b5aa6b54\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Room: G2+G3<\/p>\n<p><em>Workshop Organiser: Roy Sheppard, United Kingdom<\/em><\/p>\n<p><strong>How to present &#8211; How to network &#8211; How to enhance your career<\/strong><\/p>\n<ul>\n<li>Do you brighten a room when you walk in, or when you leave?<\/li>\n<li>What do your colleagues say about you behind your back?<\/li>\n<\/ul>\n<p>How you are perceived has a profound effect on your ability to attract professional opportunities into your life.<\/p>\n<p>This thought-provoking and entertaining session will provide you with practical ideas, new skills and strategies to help you develop your career.<\/p>\n<p>For example, everyone knows that being well-connected and meeting new people is important, but what if you\u2019re a quiet type who dreads networking and the \u2018torture\u2019 of making small talk? You can learn how to appear more confident whilst remaining true to yourself.<\/p>\n<p>Similarly, the best future opportunities invariably go to those who know how to present their ideas to large and small groups more clearly and confidently.<\/p>\n<p>In this packed session, Roy Sheppard will also share the secrets that professional speakers use to deliver engaging and impactful presentations.<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#844c6b32691060079\" href=\"#844c6b32691060079\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W04 | From genetics to new medicines: The Open Targets Genetics Portal<\/div><\/a><\/h4><\/div><div id=\"844c6b32691060079\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Room: H2<\/p>\n<p><em>Workshop Organiser:\u00a0 Maya Ghoussaini<\/em><\/p>\n<p><strong>Open Targets Genetics: Integrating evidence from genome-wide associations and functional genomics to identify and prioritise drug targets<\/strong><\/p>\n<p>The workshop will focus on Open Targets Genetics (genetics.opentargets.org), a portal that uses a wide range of biological resources including NHGRI-EBI GWAS Catalog, UK Biobank, GTEx, \u00a0pQTL and chromatin interaction features enabling users to access an interactive visualisation of summary statistics plots along with fine-scale mapping, trait co-localisation, and gene prioritisation.<\/p>\n<p>Participants will be able to use Open Targets Genetics to visualise and establish links between genes, variants, and diseases, \u00a0find shared susceptibility loci between different traits, investigate molecular trait-disease colocalisation and prioritise drug targets for their disease of interest.<\/p>\n<p>The workshop will start with a short presentation followed by a live demo of the Open Targets Genetics portal and the functionality it offers. Participants will work through hands-on interactive exercises to familiarise themselves with the portal and datasets and conduct downstream analysis for their GWAS findings to prioritise drug targets.<\/p>\n<p><strong>Workshop Speakers:<\/strong><\/p>\n<p><em>Maya Ghoussaini <\/em><br \/>\n<em>Ellen Schmidt <\/em><br \/>\n<em>Edward Mountjoy <\/em><br \/>\n<em>Gareth Peat<\/em><\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">12:00 &#8211; 14:00 hrs | Lunch Break, Exhibition, Poster Viewing<\/span><\/h4>\n<\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">12:15 &#8211; 13:45 hrs |<\/span> <span style=\"color: #ffcc00;\">Corporate Satellites<\/span><\/h4>\n<p><a href=\"https:\/\/2019.eshg.org\/index.php\/satellite-meetings\/corporate-satellite-meetings#Sa12\">More information<\/a><\/p>\n<\/div><div class=\"fusion-menu-anchor\" id=\"PL0\"><\/div><div class=\"fusion-text\"><h4>14:00 &#8211; 16:00 hrs | <span style=\"color: #80c8f3;\">Plenary Session PL1<\/span><\/h4>\n<\/div><div class=\"fusion-menu-anchor\" id=\"PL1\"><\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-1808-4 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-1808-4 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:rgba(128,200,243,0.63); }.fusion-accordian  #accordion-1808-4 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-1808-4 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-1808-4 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-1808-4 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-1808-4 .panel-title a:hover, #accordion-1808-4 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-1808-4 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-1808-4 .panel-title a:hover .fa-fusion-box { background-color: #00529c!important;border-color: #00529c!important;}<\/style><div class=\"accordian fusion-accordian\"><div class=\"panel-group\" id=\"accordion-1808-4\"><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#07ccbab787f0964ec\" href=\"#07ccbab787f0964ec\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">PL0 | Welcoming Addresses<\/div><\/a><\/h4><\/div><div id=\"07ccbab787f0964ec\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0\u00a0 Gunnar Houge, Joris Veltman<br \/>\nRoom:\u00a0\u00a0 Hall C<\/p>\n<p class=\" PublishingTitle\">PL0.1 Presidential Address<\/p>\n<p class=\"AuthorBlock\"><b>Gunnar Houge<\/b>;<br \/>\nPresident of the European Society of Human Genetics<br \/>\nBergen, Norway<\/p>\n<p class=\" PublishingTitle\">PL0.2 Welcoming Address<\/p>\n<p class=\"AuthorBlock\"><b>Magnus Burstedt<\/b>;<br \/>\nPresident of the Swedish Society of Medical Genetics and Genomics<br \/>\nGothenburg, Sweden<\/p>\n<p class=\" PublishingTitle\">PL0.3 Welcoming Address<\/p>\n<p class=\"AuthorBlock\"><strong>H\u00e5kan Eriksson<\/strong><br \/>\non behalf of City of Gothenburg<br \/>\n<strong>Annika T\u00e4nnstr\u00f6m<br \/>\n<\/strong>on behalf of Region V\u00e4stra G\u00f6taland<\/p>\n<\/div><\/div><\/div><\/div><\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-1808-5 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-1808-5 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:rgba(128,200,243,0.63); }.fusion-accordian  #accordion-1808-5 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-1808-5 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-1808-5 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-1808-5 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-1808-5 .panel-title a:hover, #accordion-1808-5 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-1808-5 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-1808-5 .panel-title a:hover .fa-fusion-box { background-color: #00529c!important;border-color: #00529c!important;}<\/style><div class=\"accordian fusion-accordian\"><div class=\"panel-group\" id=\"accordion-1808-5\"><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#8cb187d908f7b891a\" href=\"#8cb187d908f7b891a\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">PL1 | Opening Plenary Session<\/div><\/a><\/h4><\/div><div id=\"8cb187d908f7b891a\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0\u00a0 Gunnar Houge, Joris Veltman<br \/>\nRoom:\u00a0\u00a0 Hall C<\/p>\n<p class=\"PublishingTitle\">PL1.1 Genetic epidemiology of colorectal cancer \u2013 from discovery to prevention<\/p>\n<p class=\"AuthorBlock\"><b>Ulrike Peters<\/b>;<br \/>\nUnited States<\/p>\n<p class=\"PublishingTitle\">PL1.2 Single Cell transcriptional analysis of early human embryo development and stem cells<\/p>\n<p class=\"AuthorBlock\"><b>Frederik Lanner<\/b>;<br \/>\nSweden<\/p>\n<p class=\"PublishingTitle\">PL1.3 Targeted therapy in patients with PIK3CA-related overgrowth syndrome<\/p>\n<p class=\"AuthorBlock\"><b>Guillaume Canaud<\/b>;<br \/>\nFrance<\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-menu-anchor\" id=\"C01\"><\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">16:00 &#8211; 16:30 hrs | Fruit Break, Exhibition, Poster Viewing<\/span><\/h4>\n<\/div><div class=\"fusion-menu-anchor\" id=\"PL2\"><\/div><div class=\"fusion-text\"><h4>16:30 &#8211; 18:00 hrs | <span style=\"color: #80c8f3;\">Plenary Session PL2<\/span><\/h4>\n<\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-1808-6 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-1808-6 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:rgba(128,200,243,0.63); }.fusion-accordian  #accordion-1808-6 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-1808-6 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-1808-6 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-1808-6 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-1808-6 .panel-title a:hover, #accordion-1808-6 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-1808-6 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-1808-6 .panel-title a:hover .fa-fusion-box { background-color: #00529c!important;border-color: #00529c!important;}<\/style><div class=\"accordian fusion-accordian\"><div class=\"panel-group\" id=\"accordion-1808-6\"><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#adeb599b894ca795d\" href=\"#adeb599b894ca795d\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">PL2 | What's New? Highlight Session<\/div><\/a><\/h4><\/div><div id=\"adeb599b894ca795d\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"SessionNumber\">Chairs:\u00a0\u00a0 Gunnar Houge, Joris Veltman<br \/>\nRoom:\u00a0\u00a0 Hall C<\/p>\n<p class=\"PresentationNumber\">PL2.1 The single-cell transcriptional landscape of mammalian organogenesis<\/p>\n<p class=\"AuthorBlock\"><b>Malte Spielmann<\/b>, J. Cao, X. Qiu, X. Huang, D.M. Ibrahim, A.J. Hill, F. Zhang, S. Mundlos, L. Christiansen, F.J. Steemers, C. Trapnell, J. Shendure;<br \/>\nBerlin, Germany<\/p>\n<p class=\"PresentationNumber\">PL2.2 Chromatin 3D interactions mediate genetic effects on gene expression<\/p>\n<p class=\"AuthorBlock\"><b>Olivier Delaneau<\/b>, M. Zazhytska, C. Borel, G. Giannuzzi, G. Rey, C. Howald, H. Ongen, K. Popadin, D. Marbach, G. Ambrosini, D. Bielser, D. Hacker, L. Romano-Palumbo, P. Ribaux, E. Falconnet, P. Bucher, S. Bergmann, S. Antonarakis, A. Reymond, E. Dermitzakis;<br \/>\nLausanne, Switzerland<\/p>\n<p class=\"PresentationNumber\">PL2.3 Insights from the largest genetic study of sporadic and recurrent miscarriage<\/p>\n<p class=\"AuthorBlock\"><b>Triin Laisk*<\/b>, A. Soares, T. Ferreira, J.N. Painter, S. Laber, J. Bacelis, C. Chen, M. Lepamets, K. Lin, S. Liu, I.Y. Millwood, A. Ramu, J. Southcombe, M.S. Andersen, L. Yang, C. Becker, S.D. Gordon, J. Bybjerg-Grauholm, \u00d8. Helgeland, D.M. Hougaard, X. Jin, S. Johansson, J. Juodakis, C. Kartsonaki, V. Kuku\u0161kina, P. Lind, A. Metspalu, G.W. Montgomery, A.P. Morris, P.B. Mortensen, P.R. Nj\u00f8lstad, D.R. Nyholt, M. Lippincott, S. Seminara, A. Salumets, H. Snieder, K. Zondervan, Z. Chen, D.F. Conrad, B. Jacobsson, L. Li, N.G. Martin, B. Neale, R. Nielsen, R.G. Walters, I. Granne, S.E. Medland, R. M\u00e4gi, D.A. Lawlor, C.M. Lindgren;<br \/>\nTartu, Estonia<\/p>\n<p class=\"PresentationNumber\">PL2.4 Discovery and characterisation of 49 novel genetic disorders from analysing de novo mutations in 31,058 parent child trio exomes<\/p>\n<p class=\"AuthorBlock\"><b>Joanna Kaplanis*<\/b>, K. Samocha, Z. Zhang, R. Torene, K. Arvai, S. Lelieveld, E. de Boer, E. Kucuk, R. Pfundt, L. van de Wiel, P. Danecek, J. McRae, G. Gallone, R. Eberhardt, H. Brunner, C. Gilissen, K. Retterer, M. Hurles;<br \/>\nCambridge, United Kingdom<\/p>\n<p class=\"PresentationNumber\">PL2.5 Loss of <i>MAENLI<\/i>, a newly characterized lncRNA, results in limb specific inactivation of <i>EN1<\/i> and a dorsal dimelia limb phenotype<\/p>\n<p class=\"AuthorBlock\"><b>Lila Allou*<\/b>, S. Balzano, A. Magg, M. Quinodoz, B. Royer-Bertrand, R. Sch\u00f6pflin, W.L. Chan, C.E. Speck-Martins, D. Rocha de Carvalho, L. Farage, C. Marques Louren\u00e7o, S. Rajagopal, S. Nampoothiri, B. Campos-Xavier, C. Chiesa, F. Niel-B\u00fctschi, M. Spielmann, V. Desiniotis, S. Unger, C. Rivolta, L. Wittler, B. Timmermann, S. Mundlos, A. Superti-Furga;<br \/>\nBerlin, Germany<\/p>\n<p class=\"PresentationNumber\">PL2.6 Whole-genome sequencing of rare disease patients in a national healthcare system<\/p>\n<p class=\"AuthorBlock\"><b>Lucy Raymond<\/b>, on behalf of The NIHR BioResource and the 100,000Genomes Project &#8211; Rare Diseases Pilot;<br \/>\nCambridge, United Kingdom<\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">18:00 &#8211; 18:30 hrs | Coffee Break, Exhibition, Poster Viewing<\/span><\/h4>\n<\/div><div class=\"fusion-text\"><h4>18:30 &#8211; 20:00 hrs | <span style=\"color: #a7d189;\">Concurrent Sessions C01-C06<\/span> from submitted abstracts<\/h4>\n<\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-1808-7 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-1808-7 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:rgba(167,209,137,0.79); }.fusion-accordian  #accordion-1808-7 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-1808-7 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-1808-7 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-1808-7 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-1808-7 .panel-title a:hover, #accordion-1808-7 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-1808-7 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-1808-7 .panel-title a:hover .fa-fusion-box { background-color: #00529c!important;border-color: #00529c!important;}<\/style><div class=\"accordian fusion-accordian\"><div class=\"panel-group\" id=\"accordion-1808-7\"><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#a8aec6d5c136ca4c3\" href=\"#a8aec6d5c136ca4c3\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C01 | Novel diagnostic approaches<\/div><\/a><\/h4><\/div><div id=\"a8aec6d5c136ca4c3\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0\u00a0 Morten Dun\u00f8, Philippos Patsalis<br \/>\nRoom:\u00a0\u00a0 Hall C<\/p>\n<p class=\"PresentationNumber\">C01.1 A national approach to rapid genomic diagnosis in acute paediatrics<\/p>\n<p class=\"AuthorBlock\">S. Lunke, C. Patel, M. Wilson, J. Pinner, S.A. Sandaradura, D. Mowat, E. Kirk, M.F. Hunter, E.I. Krzesinski, C. Barnett, L.S. Akesson, C.M. Richmond, S. Kumble, N.B. Tan, A. Fennell, J. Rogers, M. Higgins, A. Vasudevan, K.B. Howell, S.M. White, M.G. de Silva, G.R. Brett, L. Gallacher, S. Ayres, K. Boggs, A. Bray, A. Baxendale, S. Borrie, S. King-Smith, M.C. Quinn, L. Fowles, L. Hunt, S. Eggers, J. Riseley, B. Chong, D. Phelan, S. Sadedin, M. Martyn, I. Goranitis, S. Best, M.F. Buckley, T. Roscioli, J. Christodoulou, Australian Genomics Health Alliance Acute Care Flagship, <b>Zornitza Stark<\/b>;<br \/>\nMelbourne, Australia<\/p>\n<p class=\"PresentationNumber\">C01.2 Effectiveness of integrated interpretation of exome and corresponding transcriptome data in detecting splicing variants of recessive disorders<\/p>\n<p class=\"AuthorBlock\"><b>Mamiko Yamada*<\/b>, Y. Shiraishi, H. Suzuki, K. Kosaki;<br \/>\nShinjuku, Japan<\/p>\n<p class=\"PresentationNumber\">C01.3 Chromosome conformation capture (HiC) combined with whole genome sequencing for the detection and functional interpretation of complex genomic rearrangements in developmental disease<\/p>\n<p class=\"AuthorBlock\"><b>Uira S. Melo*<\/b>, R. Sch\u00f6pflin, R.A. Hidalgo, M.A. Mensah, B. Fischer\u2010Zirnsak, V. Suckow, S. T\u00fcrkmen, F. Quintero, S.B. Sousa, P. Louro, M. Spielmann, V. Kalscheuer, I. Datkhaeva, S. Mundlos;<br \/>\nBerlin, Germany<\/p>\n<p class=\"PresentationNumber\">C01.4 Expanding Next Generation Phenotyping on clinical notes and hand radiographs<\/p>\n<p class=\"AuthorBlock\">Yair Hanani, A. Superti-Furga, H. Warren, Y. Gurovich, N. Fleischer, S.A. Skinner, K.W. Gripp, <strong>G. Nadav<\/strong>,<strong>\u00a0<\/strong>P.M. Krawitz;<br \/>\nBoston, United States<\/p>\n<p class=\"PresentationNumber\">C01.5 Using UK Biobank to assess the pathogenicity, penetrance and expressivity of monogenic disease variants<\/p>\n<p class=\"AuthorBlock\"><b>Caroline F. Wright<\/b>, M.A. Tuke, B. West, S. Jones, K. Patel, T.W. Laver, R.N. Beaumont, J. Tyrrell, A.R. Wood, A. Murray, A.T. Hattersley, T.M. Frayling, M.N. Weedon;<br \/>\nExeter, United Kingdom<\/p>\n<p class=\"PresentationNumber\">C01.6 Man vs Machine: Implementing clinically validated automated variant prioritisation with diagnostic performance that equals human experts<\/p>\n<p class=\"AuthorBlock\"><b>Leslie Burnett<\/b>, A.L. Statham, B.A. Lundie, E. Lee, A. Poulet;<br \/>\nDarlinghurst Sydney, Australia<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#1ae596864e7e7f9ba\" href=\"#1ae596864e7e7f9ba\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C02 | 3D gene regulation<\/div><\/a><\/h4><\/div><div id=\"1ae596864e7e7f9ba\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0 Olaf Riess, Olaug R\u00f8dningen<br \/>\nRoom:\u00a0\u00a0 K2+K3<\/p>\n<p class=\"PresentationNumber\">C02.1 CRISPR-engineered serial genomic inversions lead to tissue-specific architectural stripes, ectopic gene expression and congenital limb malformations<\/p>\n<p class=\"AuthorBlock\">K. Kraft, <b>Andreas Magg<\/b>, V. Heinrich, C. Riemenschneider, R. Sch\u00f6pflin, J. Markowski, D. Ibrahim, R. Acuna-Hidalgo, A. Despang, G. Andrey, L. Wittler, B. Timmermann, M. Vingron, S. Mundlos;<br \/>\nBerlin, Germany<\/p>\n<p class=\"PresentationNumber\">C02.2 Functional dissection of TADs reveals non-essential and instructive roles in regulating gene expression<\/p>\n<p class=\"AuthorBlock\">A. Despang, R. Sch\u00f6pflin, M. Franke, S. Ali, I. Jerkovic, C. Paliou, W. Chan, B. Timmermann, L. Wittler, M. Vingron, S. Mundlos, <b>Daniel M. Ibrahim<\/b>;<br \/>\nBerlin, Germany<\/p>\n<p class=\"PresentationNumber\">C02.3 Saturation mutagenesis of disease-associated regulatory elements<\/p>\n<p class=\"AuthorBlock\"><b>Max Schubach*<\/b>, C. Xiong, B. Martin, F. Inoue, R.J.A. Bell, J. Costello, J. Shendure, N. Ahituv, M. Kircher;<br \/>\nBerlin, Germany<\/p>\n<p class=\"PresentationNumber\">C02.4 Characterization of <i>GJB2 cis<\/i>-regulatory elements in the <i>DFNB1 <\/i>locus<\/p>\n<p class=\"AuthorBlock\"><b>Ana\u00efs Le Nabec<\/b>, A. Quill\u00e9v\u00e9r\u00e9, C. Le Mar\u00e9chal, C. F\u00e9rec, S. Moisan;<br \/>\nBrest, France<\/p>\n<p class=\"PresentationNumber\">C02.5 Novel insights into molecular mechanisms in X-linked dystonia-parkinsonism (XDP)<\/p>\n<p class=\"AuthorBlock\"><b>Jelena Pozojevic*<\/b>, A. Westenberger, C.J. Reyes, K. Gr\u00fctz, H. Kirchner, C. Klein, F.J. Kaiser;<br \/>\nL\u00fcbeck, Germany<\/p>\n<p class=\"PresentationNumber\">C02.6 Understanding the roles and the regulation of the Mowat-Wilson Syndrome transcription factor ZEB2 during development and disease<\/p>\n<p class=\"AuthorBlock\">J. Birkhoff, A. Korporaal, S.G. Caraffi, I. Ivanovski, S. Garcia-Minaur, P. Kolovos, R. Brouwer, W. van Ijcken, L. Garavelli, D. Huylebroeck, <b>Andrea Conidi<\/b>;<br \/>\nRotterdam, Netherlands<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#b320ea67668cee30f\" href=\"#b320ea67668cee30f\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C03 | Neurogenetic and psychiatric disorders<\/div><\/a><\/h4><\/div><div id=\"b320ea67668cee30f\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0 Hilde van Esch, Laura Vandervore<br \/>\nRoom:\u00a0\u00a0 F1+F2+F3<\/p>\n<p class=\"PresentationNumber\">C03.1 Intronic expansions of an ATTTC pentamer in the <i>STARD7<\/i> gene underlie Familial Adult Myoclonic Epilepsy linked to chromosome 2 (FAME2).<\/p>\n<p class=\"AuthorBlock\"><b>Jozef Gecz<\/b>, Z. Afawi, M. Bahlo, M.F. Bennett, S.F. Berkovic, F. Bisulli, F. Brancati, L. Canafoglia, G. Casari, R. van Coller, M.A. Corbett, D. Crompton, C. Depienne, R. Guerrini, E. Hirsch, M. Klein, L. Licchetta, A. van den Maagdenberg, D. Mei, T. Pippucci, L. Sadleir, I.E. Scheffer, S.M. Sisodiya, P. Striano, A. Suppa, M.A. Tijssen, L. Veneziano, F. Zara, The FAME Consortium;<br \/>\nAdelaide, Australia<\/p>\n<p class=\"PresentationNumber\">C03.2 SINEUPs technology: a new route to possibly treat haploinsufficiency-induced Epilepsy and Autism Spectrum Disorders (ASDs)<b><i><\/i><\/b><\/p>\n<p class=\"AuthorBlock\"><b>Michele Arnoldi*<\/b>, F. Di Leva, G.L. Carvill, S. Zucchelli, S. Gustincich, M. Biagioli;<br \/>\nTrento, Italy<\/p>\n<p class=\"PresentationNumber\">C03.3<\/p>\n<p class=\"PublishingTitle\">Brain somatic mutations associated with aging contribute to the initiation of Tau pathology in Alzheimer\u2019s disease<\/p>\n<p class=\"AuthorBlock\"><b>Jun Sung Park*<\/b>, J. Lee, E. Jung, M. Kim, I. Kim, H. Son, S. Kim, S. Kim, Y. Park, I. Mook-Jung, S. Yu, J. Lee;<br \/>\nDaejeon, Korea, Republic of<\/p>\n<p class=\"PresentationNumber\">C03.4 Loss of neutral sphingomyelinase-3 (SMPD4) links neurodevelopmental disorders to cell cycle and nuclear envelope anomalies<\/p>\n<p class=\"AuthorBlock\"><b>D J. Smits*<\/b>, P. Magini, L. Vandervore, R. Schot, M. Columbaro, E. Kasteleijn, M. van der Ent, F. Palombo, L. Iommarini, M.H. Lequin, A.M. Porcelli, P. Govaert, M. Dremmen, M.C.Y. de Wit, M. Severino, M.T. Divizia, N. Ordonez-Herrera, A. Alhashem, A. Al Fares, M. Al Ghamdi, M. Al Ghamdi, A. Rolfs, P. Bauer, J. Demmers, F. Verheijen, M. Wilke, M. van Slegtenhorst, P. van der Spek, A. Jansen, R. Stottmann, R. Hufnagel, R. Hopkin, D. Aljeaid, W. Wiszniewski, P. Gawlinski, W.B. Dobyns, M. Seri, T. Pippucci, M. Fornerod, G.M.S. Mancini;<br \/>\nRotterdam, Netherlands<\/p>\n<p class=\"PresentationNumber\">C03.5 Exploring the impact of CHD2 mutations on DNA double strand break (DSB) repair via non-homologous end joining (NHEJ) using Cas9 and Nanopore sequencing in human induced pluripotent stem cells (hIPSC)<\/p>\n<p class=\"AuthorBlock\"><b>Ian Tully*<\/b>, M. Alsaqati, A. Baldwin, W. Plumbly, A. Harwood;<br \/>\nCardiff, United Kingdom<\/p>\n<p class=\"PresentationNumber\">C03.6 <i>De-novo<\/i> mutations in <i>TAOK1<\/i> cause neurodevelopmental disorders<\/p>\n<p class=\"AuthorBlock\"><b>Marija Dulovic Mahlow<\/b>, J. Trinh, K. Kumar Kandaswamy, G. Julius Braathen, N. Di Donato, M. Werber, V. Krajka, \u00d8. L. Busk, G. Oprea, F. Hinrichs, \u00d8. L. Holla, M. E.R. Weiss, A. Kahlert, S. Kishore, K. Tveten, M. Vos, A. Rolfs, K. Lohmann;<br \/>\nLuebeck, Germany<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#bffcee327a922feb8\" href=\"#bffcee327a922feb8\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C04 | Fertility<\/div><\/a><\/h4><\/div><div id=\"bffcee327a922feb8\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0 Danja Plaseska-Karanfilska, Pernille T\u00f8rring<br \/>\nRoom:\u00a0\u00a0 F4+F5<\/p>\n<p class=\"PresentationNumber\">C04.1 Ectopic expression of CGG repeats leads to impaired response to gonadotropin hormones and reduced fertility with age in a mouse model of the<i>FMR1<\/i>premutation<\/p>\n<p class=\"AuthorBlock\">K. Shelly, N. Candelaria, Z. Li, P. Jin, <b>David L. Nelson<\/b>;<br \/>\nHouston, United States<\/p>\n<p class=\"PresentationNumber\">C04.2 Proteomics and single-cell RNA analysis of <i>Akap4<\/i>-knockout mice model confirm indispensable role of <i>Akap4<\/i> in spermatogenesis<\/p>\n<p class=\"AuthorBlock\"><b>Na Li<\/b>, X. Fang, L. Huang, J. Xu, C. Ma, Z. Chen, Z. Zhang, C. Liao, S. Zheng, P. Huang, W. Xu, L. Sun;<br \/>\nGuangzhou, China<\/p>\n<p class=\"PresentationNumber\">C04.3 Discovery of selfish mutations expanding in the male germline with duplex sequencing<\/p>\n<p class=\"AuthorBlock\"><b>Renato Salazar<\/b>, B. Arbeithuber, M. Ivankovic, G. Povysil, M. Heinzl, I. Hartl, S. Moura, J. Pr\u00f6ll, I. Tiemann-Boege;<br \/>\nLinz, Austria<\/p>\n<p class=\"PresentationNumber\">C04.4 Exome sequencing reveals <i>de novo<\/i> mutations and deletions in severe idiopathic male infertility<\/p>\n<p class=\"AuthorBlock\"><b>Manon S. Oud*<\/b>, R.M. Smits, F.K. Mastrorosa, H. Smith, M.J. Xavier, G.S. Holt, H. Sheth, B.J. Houston, M.K. O&#8217;Bryan, P.F. de Vries, B. Alobaidi, H. Ismail, A. Garcia-Rodriguez, A. Mikulasova, C. Gilissen, L.E.L.M. Vissers, F. T\u00fcttelmann, K. McEleny, J. Coxhead, S. Cockell, D.D.M. Braat, K. Fleischer, G.W. van der Heijden, L. Ramos, J.A. Veltman;<br \/>\nNijmegen, Netherlands<\/p>\n<p class=\"PresentationNumber\">C04.5 <i>CETN1<\/i> is associated with spermatogenesis and male fertility: Genetic and functional perspectives<\/p>\n<p class=\"AuthorBlock\"><b>Digumarthi V.S. Sudhakar*<\/b>, S. Jaishankar, R. Phanindranath, A. Pawar, V. Jayaraman, D. Verma, J. Reshma Devi, B. Senthilkumaran, R. Dada, K. Singh, R. Singh, N.J. Gupta, B.N. Chakravarth, M. Deendayal, K.V. Chary, A. Anand, Y. Sharma, D. Gedala Rao, K.C. Mantravadi, J. Gopalakrishnan, K. Thangaraj;<br \/>\nHyderabad, India<\/p>\n<p class=\"PresentationNumber\">C04.6 Duplication and deletion of key SOX9 enhancers cause sex reversal in humans<\/p>\n<p class=\"AuthorBlock\">B.M. Croft, T. Ohnesorg, <b>Andrew H. Sinclair<\/b>;<br \/>\nMelbourne, Australia<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#454e6d05e3f03516e\" href=\"#454e6d05e3f03516e\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C05 | Developmental disorders 1<\/div><\/a><\/h4><\/div><div id=\"454e6d05e3f03516e\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0\u00a0 Cecilie Rustad, Sergio Sousa<br \/>\nRoom:\u00a0\u00a0 G2+G3<\/p>\n<p class=\"PresentationNumber\">C05.1 Human and mouse gene essentiality screens allow to identify candidate genes for developmental disorders<\/p>\n<p class=\"AuthorBlock\"><b>Violeta Munoz Fuentes<\/b>, P. Cacheiro, T.H. Meehan, D. Smedley;<br \/>\nCambridge, United Kingdom<\/p>\n<p class=\"PresentationNumber\">C05.2 C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome associated with a <i>Braf<\/i> mutation<\/p>\n<p class=\"AuthorBlock\"><b>Shin-ichi Inoue<\/b>, N. Morozumi, K. Yoshikiyo, H. Maeda, Y. Aoki;<br \/>\nSendai, Japan<\/p>\n<p class=\"PresentationNumber\">C05.3 Towards the treatment of Cant\u00fa syndrome<\/p>\n<p class=\"AuthorBlock\"><b>Helen I. Roessler*<\/b>, C. McClenaghan, Y. Huang, C.M. Halabi, T. Harter, S. Savelberg, F. Tessadori, J. Bakkers, A. Kovacs, M.S. Remedi, E.P. Kirk, I. Scurr, S.F. Smithson, M.M. van Haelst, D.K. Grange, C.G. Nichols, G. van Haaften;<br \/>\nUtrecht, Netherlands<\/p>\n<p class=\"PresentationNumber\">C05.4 A restricted spectrum of <i>KMT2D<\/i> variants cause a multiple malformations disorder distinct from Kabuki syndrome<\/p>\n<p class=\"AuthorBlock\"><b>Sara Cuvertino*<\/b>, V. Hartill, A. Colyer, F. Nadat, N. Nair, A. Stevens, T. Garner, V. Faundes, S. Kimber, F. Flinter, S.A. Lynch, N. Canham, The Deciphering Developmental Disorders Study, the 100,000 Genomes Project, B. Jackson, G.M. Squeo, S. Venuto, G. Merla, E. Sheridan, C.A. Johnson, S. Banka;<br \/>\nManchester, United Kingdom<\/p>\n<p class=\"PresentationNumber\">C05.5 <i>De novo<\/i> C-terminal truncating mutations in <i>MN1<\/i> cause a neurodevelopmental syndrome with distinctive facial features<\/p>\n<p class=\"AuthorBlock\"><b>Chris T. Gordon<\/b>, C. Mak, D. Doherty, A. Lin, N. Vegas, M. Cho, G. Viot, C. Dimartino, J. Weisfeld-Adams, D. Lessel, S. Joss, C. Li, C. Gonzaga-Jauregui, Y. Zarate, D. Horn, C. Troyer, S. Kant, G. Leung, A. Barone, S. Yang, E. Bend, C. Roadhouse, F. Zahir, E. Stolerman, T. Bienvenu, N. Orenstein, W. Dobyns, J. Shieh, D. Waggoner, K. Gripp, M. Parker, J. Stoler, S. Lyonnet, V. Cormier-Daire, D. Viskochil, T. Hoffman, J. Amiel, B. Chung;<br \/>\nParis, France<\/p>\n<p class=\"PresentationNumber\">C05.6 <i>De novo <\/i>missense mutations in the X-linked<i> TFE3 <\/i>gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features<\/p>\n<p class=\"AuthorBlock\"><b>Daphn\u00e9 Lehalle<\/b>, P. Vabres, T. Bierhals, M.T. Cho, B. Cogne, M. Avila, V. Carmignac, L. Duplomb-Jego, E. De Bont, Y. Duffourd, F. Duijkers, O. Elpeleg, A. Fattal-Valevski, D. Genevieve, A. Guimier, D. Harris, M. Hempel, B. Isidor, T. Jouan, P. Kuentz, K. Lichtenbelt, V. Loik Ramey, L. Pasquier, J. St-Onge, A. Sorlin, J. Thevenon, E. Torti, K. Van Gassen, M. Van Haelst, S. van Koningsbruggen, J. Riviere, C. Thauvin, J. Betschinger, L. Faivre;<br \/>\nDijon, France<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#155e04e73ef2d707c\" href=\"#155e04e73ef2d707c\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C06 | Cellular dysfunctions<\/div><\/a><\/h4><\/div><div id=\"155e04e73ef2d707c\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0 Birute Tumiene, Erik Bj\u00f6rck<br \/>\nRoom:\u00a0\u00a0 K1<\/p>\n<p class=\"PresentationNumber\">C06.1 <i>DTYMK<\/i> deficiency is the cause of a novel vanishing brain disease<\/p>\n<p class=\"AuthorBlock\"><b>Jo M. Vanoevelen<\/b>, J. Bierau, E. Kamsteeg, R.A. Wevers, V.A. Bok, M. van der Knaap, M. Bugiani, M. O&#8217; Driscoll, A. van den Wijngaard, H.G. Brunner, L. Wang, C.T.R.M. Stumpel;<br \/>\nMaastricht, Netherlands<\/p>\n<p class=\"PresentationNumber\">C06.2 <i>DEGS1 <\/i>Mutation causes sphingolipidosis<\/p>\n<p class=\"AuthorBlock\"><b>Vadim A. Dolgin*<\/b>, R. Straussberg, R. Xu, I. Mileva, Y. Yogev, C. Mao, O.S. Birk;<br \/>\nBeer Sheva, Israel<\/p>\n<p class=\"PresentationNumber\">C06.3 MAGT1-CDG vs. XMEN: two faces of a novel glycosylation disorder<b><\/b><\/p>\n<p class=\"AuthorBlock\"><b>Eline Blommaert*<\/b>, R. P\u00e9anne, N.A. Cherepanova, D. Rymen, J. Jaeken, R. Schrijvers, F. Foulquier, R. Gilmore, G. Matthijs;<br \/>\nLeuven, Belgium<\/p>\n<p class=\"PresentationNumber\">C06.4 Implication of <i>LRP6<\/i> variants in familial hypercholesterolemia<\/p>\n<p class=\"AuthorBlock\"><b>Youmna Ghaleb*<\/b>, S. ElBitar, A. Loste, P. El khoury, Y. Abou-khalil, G. Nicolas, M. Le Borgne, P. Moulin, M. Di-filippo, S. Charriere, H. Iliozer, J. Rab\u00e8s, C. Boileau, M. Abifadel, M. Varret;<br \/>\nParis, France<\/p>\n<p class=\"PresentationNumber\">C06.5 Deciphering altered inhibitor G-protein signaling in the cardiac dysfunction underlying Intellectual Developmental Disorder with Cardiac Arrhythmia (IDDCA) syndrome<\/p>\n<p class=\"AuthorBlock\"><b>Pasquelena De Nittis*<\/b>, A. Sarre, J. Chrast, W.F. Simonds, T. Pedrazzini, A. Reymond;<br \/>\nLausanne, Switzerland<\/p>\n<p class=\"PresentationNumber\">C06.6 <i>PCYT2 <\/i>Variants Disrupt Etherlipid Biosynthesis and Cause a Complex Hereditary Spastic Paraplegia<\/p>\n<p class=\"AuthorBlock\"><b>John H. McDermott<\/b>, F. Vaz, M. Alders, S.B. Wortmann, S. K\u00f6lker, M.L. Pras-Raves, M.A.T. Vervaart, H. Van Lenthe, A.C.M. Luyf, H.L. Elfrink, K. Metcalfe, S. Cuvertino, P.E. Clayton, R. Yarwood, M.P. Lowe, S. Lovell, R.C. Rogers, A.H.C. Van Kampen, Deciphering Developmental Disorders Study, J.P.N. Ruiter, S. Ferdinandusse, M. Van Weeghel, M. Engelen, S. Banka;<br \/>\nManchester, United Kingdom<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#40b142ade4b7442c2\" href=\"#40b142ade4b7442c2\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C07 | Gene editing and reproduction<\/div><\/a><\/h4><\/div><div id=\"40b142ade4b7442c2\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p><img loading=\"lazy\" class=\"alignnone wp-image-6695 \" src=\"https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew.png\" alt=\"\" width=\"46\" height=\"28\" srcset=\"https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew-200x120.png 200w, https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew-320x202.png 320w, https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew.png 350w\" sizes=\"(max-width: 46px) 100vw, 46px\" \/><\/p>\n<p>Chairs:\u00a0 Angus John Clarke, Danya Vears<br \/>\nRoom:\u00a0 H2<\/p>\n<p class=\"PresentationNumber\">C07.1 Experts\u2019 opinions on genome editing in humans: a collective construction of a disruptive technology<\/p>\n<p class=\"AuthorBlock\"><strong>Virginia Romano<\/strong>, H. C. Howard;<br \/>\nUppsala, Sweden<\/p>\n<p class=\"PresentationNumber\">C07.2 How will new reproductive genetic technologies change genetically at-risk couples\u2019 reproductive decision making? Views on NIPD and gene modification<\/p>\n<p class=\"AuthorBlock\"><b>Ivy van Dijke*<\/b>, P. Lakeman, I.B. Mathijssen, M.C. Cornel, L. Henneman;<br \/>\nAmsterdam, Netherlands<\/p>\n<p class=\"PresentationNumber\">C07.3 Perspectives of a Genetic Disease Community and Genetic Professionals on Germline Gene Editing<\/p>\n<p class=\"AuthorBlock\">B.M. Hollister, M. Gatter, K.E. Abdallah, A. Armsby, A.J. Buscetta, Y. Byeon, K.E. Cooper, S. Desine, M.J. Hahn, K.E. Ormond, <b>Vence L. Bonham<\/b>;<br \/>\nBethesda, United States<\/p>\n<p class=\"PresentationNumber\">C07.4 National implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in the Netherlands: evaluation of women\u2019s perspectives<\/p>\n<p class=\"AuthorBlock\"><b>Karuna R.M. van der Meij*<\/b>, M.N. Bekker, J.T. Gitsels- van der Wal, L. Martin, E.H. van Vliet-Lachotzki, D.R.M. Timmermans, R.H. Galjaard, E.A. Sistermans, L. Henneman, Dutch NIPT Consortium;<br \/>\nAmsterdam, Netherlands<\/p>\n<p class=\"PresentationNumber\">C07.5 Implementing non-invasive prenatal testing (NIPT): An interview study of pregnant women&#8217;s opinions about and experiences with societal pressure, reimbursement and an expanding scope<\/p>\n<p class=\"AuthorBlock\"><b>Iris M. Bakkeren<\/b>, A. Kater-Kuipers, E.M. Bunnik, A.T.J.I. Go, I.D. de Beaufort, R.H. Galjaard, S.R. Riedijk;<br \/>\nRotterdam, Netherlands<\/p>\n<p class=\"PresentationNumber\">C07.6 The notion of &#8220;serious&#8221; for genetic disease: To qualify or not, that is the question<\/p>\n<p class=\"AuthorBlock\"><b>Erika Kleiderman<\/b>, V. Ravitsky, B. Knoppers;<br \/>\nMontreal, Canada<\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">20:00 &#8211; 22:00 hrs | ESHG Networking Mixer<\/span><\/h4>\n<p><a href=\"https:\/\/2019.eshg.org\/index.php\/myconference\/official-events\/\" rel=\"noopener\">More information<\/a><\/p>\n<\/div><div class=\"fusion-clearfix\"><\/div>\n\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div><div  class=\"fusion-layout-column fusion_builder_column fusion_builder_column_1_2 fusion-builder-column-4 fusion-one-half fusion-column-first 1_2\"  style='margin-top:0px;margin-bottom:0px;'>\n\t\t\t\t\t<div class=\"fusion-column-wrapper\" style=\"padding: 0px 0px 0px 0px;background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;\"   data-bg-url=\"\">\n\t\t\t\t\t\t<div class=\"fusion-clearfix\"><\/div>\n\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div><div  class=\"fusion-layout-column fusion_builder_column fusion_builder_column_1_2 fusion-builder-column-5 fusion-one-half fusion-column-last 1_2\"  style='margin-top:0px;margin-bottom:0px;'>\n\t\t\t\t\t<div class=\"fusion-column-wrapper\" style=\"padding: 0px 0px 0px 0px;background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;\"   data-bg-url=\"\">\n\t\t\t\t\t\t<div class=\"fusion-button-wrapper fusion-alignright\"><style type=\"text\/css\" scoped=\"scoped\">.fusion-button.button-2{width:auto;}<\/style><a class=\"fusion-button button-flat fusion-button-square button-small button-lightgray button-2\" target=\"_self\" href=\"https:\/\/2019.eshg.org\/index.php\/programme\/sunday\"><span class=\"fusion-button-text fusion-button-text-right\">Sunday<\/span><span class=\"fusion-button-icon-divider button-icon-divider-right\"><i class=\"fa-angle-double-right fas\"><\/i><\/span><\/a><\/div><div class=\"fusion-clearfix\"><\/div>\n\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div><div  class=\"fusion-layout-column fusion_builder_column fusion_builder_column_1_2 fusion-builder-column-6 fusion-one-half fusion-column-first hidden 1_2\"  style='margin-top:0px;margin-bottom:0px;'>\n\t\t\t\t\t<div class=\"fusion-column-wrapper\" style=\"padding: 0px 0px 0px 0px;background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;\"   data-bg-url=\"\">\n\t\t\t\t\t\t<div class=\"fusion-text\"><p class=\"AuthorBlock\">*An asterisk in the author block indicates that the presenter is a Young Investigator and candidate for one of the Y.I. Awards.<\/p>\n<\/div><div class=\"fusion-clearfix\"><\/div>\n\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div><\/div><\/div><div class=\"fusion-fullwidth fullwidth-box nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\"  style='background-color: #ffffff;background-position: center center;background-repeat: no-repeat;padding-top:0px;padding-right:0px;padding-bottom:0px;padding-left:0px;'><div class=\"fusion-builder-row fusion-row \"><div  class=\"fusion-layout-column fusion_builder_column fusion_builder_column_1_1 fusion-builder-column-7 fusion-one-full fusion-column-first fusion-column-last 1_1\"  style='margin-top:0px;margin-bottom:0px;'>\n\t\t\t\t\t<div class=\"fusion-column-wrapper\" style=\"padding: 0px 0px 0px 0px;background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;\"   data-bg-url=\"\">\n\t\t\t\t\t\t<div class=\"fusion-text\"><div id=\"selenium-highlight\"><\/div>\n<div id=\"selenium-highlight\"><\/div>\n<div id=\"selenium-highlight\"><\/div>\n<\/div><div class=\"fusion-clearfix\"><\/div>\n\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div><\/div><\/div><\/p>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":2,"featured_media":0,"parent":376,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"inline_featured_image":false},"_links":{"self":[{"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/pages\/1808"}],"collection":[{"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/comments?post=1808"}],"version-history":[{"count":312,"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/pages\/1808\/revisions"}],"predecessor-version":[{"id":6725,"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/pages\/1808\/revisions\/6725"}],"up":[{"embeddable":true,"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/pages\/376"}],"wp:attachment":[{"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/media?parent=1808"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}