{"id":1220,"date":"2018-12-23T14:23:17","date_gmt":"2018-12-23T14:23:17","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1220"},"modified":"2026-02-24T15:23:50","modified_gmt":"2026-02-24T15:23:50","slug":"mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/","title":{"rendered":"MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome (Contributed by Dr. Kohji Kato)"},"content":{"rendered":"<p>We identified a heterozygous missense mutation (c.173C&gt;T; p.Thr58Met) in the<em> MYCN<\/em> gene in an individual with megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disability, polydactyly and neuroblastoma. The mutation occurred at Thr58 phosphorylation site essential for ubiquitination and subsequent MYCN degradation. <em>In vitro<\/em> and <em>in vivo<\/em> analysis suggested that this mutation stabilized and accumulated MYCN protein and induced prolonged CCND1 and CCND2 expression, which promoted neurogenesis and impaired neuronal cell migration. This is the first report of a germline gain-of-function mutation in <em>MYCN<\/em> leading to a novel megalencephaly syndrome contrary to Feingold microcephaly syndrome caused by a loss-of-function mutation in<em> MYCN<\/em>. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2018\/12\/20\/jmedgenet-2018-105487\">https:\/\/jmg.bmj.com\/content\/early\/2018\/12\/20\/jmedgenet-2018-105487<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/untitled-16\/\" rel=\"attachment wp-att-1222\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1222\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/Untitled-2-300x182.jpg\" alt=\"\" width=\"300\" height=\"182\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/Untitled-2-300x182.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/Untitled-2-768x466.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/Untitled-2-1024x621.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/Untitled-2-640x388.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/Untitled-2.jpg 1364w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>We identified a heterozygous missense mutation (c.173C&gt;T; p.Thr58Met) in the MYCN gene in an individual with megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disability, polydactyly and neuroblastoma. The mutation occurred at Thr58 phosphorylation site essential for ubiquitination and subsequent MYCN degradation. In vitro and in vivo analysis suggested that this mutation stabilized and accumulated MYCN protein [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1220","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome (Contributed by Dr. Kohji Kato) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome (Contributed by Dr. Kohji Kato) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"We identified a heterozygous missense mutation (c.173C&gt;T; p.Thr58Met) in the MYCN gene in an individual with megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disability, polydactyly and neuroblastoma. The mutation occurred at Thr58 phosphorylation site essential for ubiquitination and subsequent MYCN degradation. In vitro and in vivo analysis suggested that this mutation stabilized and accumulated MYCN protein [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2018-12-23T14:23:17+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T15:23:50+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/Untitled-2.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1364\" \/>\n\t<meta property=\"og:image:height\" content=\"827\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome (Contributed by Dr. Kohji Kato)\",\"datePublished\":\"2018-12-23T14:23:17+00:00\",\"dateModified\":\"2026-02-24T15:23:50+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\\\/\"},\"wordCount\":131,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2018\\\/12\\\/Untitled-2-300x182.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\\\/\",\"name\":\"MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome (Contributed by Dr. Kohji Kato) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2018\\\/12\\\/Untitled-2-300x182.jpg\",\"datePublished\":\"2018-12-23T14:23:17+00:00\",\"dateModified\":\"2026-02-24T15:23:50+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\\\/#primaryimage\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2018\\\/12\\\/Untitled-2.jpg\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2018\\\/12\\\/Untitled-2.jpg\",\"width\":1364,\"height\":827},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/12\\\/23\\\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome (Contributed by Dr. Kohji Kato)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome (Contributed by Dr. Kohji Kato) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/","og_locale":"en_US","og_type":"article","og_title":"MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome (Contributed by Dr. Kohji Kato) - JMG Contact blog","og_description":"We identified a heterozygous missense mutation (c.173C&gt;T; p.Thr58Met) in the MYCN gene in an individual with megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disability, polydactyly and neuroblastoma. The mutation occurred at Thr58 phosphorylation site essential for ubiquitination and subsequent MYCN degradation. In vitro and in vivo analysis suggested that this mutation stabilized and accumulated MYCN protein [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/","og_site_name":"JMG Contact blog","article_published_time":"2018-12-23T14:23:17+00:00","article_modified_time":"2026-02-24T15:23:50+00:00","og_image":[{"width":1364,"height":827,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/Untitled-2.jpg","type":"image\/jpeg"}],"author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome (Contributed by Dr. Kohji Kato)","datePublished":"2018-12-23T14:23:17+00:00","dateModified":"2026-02-24T15:23:50+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/"},"wordCount":131,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/Untitled-2-300x182.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/","url":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/","name":"MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome (Contributed by Dr. Kohji Kato) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"primaryImageOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/#primaryimage"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/Untitled-2-300x182.jpg","datePublished":"2018-12-23T14:23:17+00:00","dateModified":"2026-02-24T15:23:50+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/#primaryimage","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/Untitled-2.jpg","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/12\/Untitled-2.jpg","width":1364,"height":827},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/12\/23\/mycn-de-novo-gain-of-function-mutation-in-a-patient-with-a-novel-megalencephaly-syndrome\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome (Contributed by Dr. Kohji Kato)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.","sameAs":["https:\/\/x.com\/HuiQiQu"],"url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1220","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=1220"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1220\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1220"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1220"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1220"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}