{"id":7236,"date":"2025-01-04T12:00:00","date_gmt":"2025-01-04T03:00:00","guid":{"rendered":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/genetic-landscape-in-undiagnosed-patients-with-syndromic-hearing-loss-revealed-by-whole-exome-sequencing-and-phenotype-similarity-search\/"},"modified":"2026-09-30T20:48:25","modified_gmt":"2026-09-30T11:48:25","slug":"genetic-landscape-in-undiagnosed-patients-with-syndromic-hearing-loss-revealed-by-whole-exome-sequencing-and-phenotype-similarity-search","status":"publish","type":"post","link":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/archives\/7236\/","title":{"rendered":"Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search"},"content":{"rendered":"<p>Mutai H, Miya F, Nara K, Yamamoto N, Inoue S, Murakami H, Namba K, Shitara H, Minami S, Nakano A, Arimoto Y, Morimoto N, Kawasaki T, Wasano K, Fujioka M, Uchida Y, Kaga K, Yamazawa K, Kikkawa Y, Kosaki K, Tsunoda T, Matsunaga T.<br \/>\nHum Genet. 2025;144(1):93-112.<br \/>\n<a href=\"https:\/\/doi.org\/10.1007\/s00439-024-02719-5\" target=\"_blank\" rel=\"noopener\">DOI: 10.1007\/s00439-024-02719-5<\/a> \uff0f <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39755840\/\" target=\"_blank\" rel=\"noopener\">PubMed: 39755840<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mutai H, Miya F, Nara K, &#8230;<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[81],"tags":[],"class_list":["post-7236","post","type-post","status-publish","format-standard","category-original-articles"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search - \u5317\u91cc\u5927\u5b66\u533b\u5b66\u90e8 \u5206\u5b50\u907a\u4f1d\u5b66<\/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:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/archives\/7236\/\" \/>\n<meta property=\"og:locale\" content=\"ja_JP\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search - \u5317\u91cc\u5927\u5b66\u533b\u5b66\u90e8 \u5206\u5b50\u907a\u4f1d\u5b66\" \/>\n<meta property=\"og:description\" content=\"Mutai H, Miya F, Nara K, ...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/archives\/7236\/\" \/>\n<meta property=\"og:site_name\" content=\"\u5317\u91cc\u5927\u5b66\u533b\u5b66\u90e8 \u5206\u5b50\u907a\u4f1d\u5b66\" \/>\n<meta property=\"article:published_time\" content=\"2025-01-04T03:00:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-09-30T11:48:25+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/wp-content\/uploads\/2026\/05\/kitasato-logo-260520.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1037\" \/>\n\t<meta property=\"og:image:height\" content=\"362\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"Shinya Kina\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"\u57f7\u7b46\u8005\" \/>\n\t<meta name=\"twitter:data1\" content=\"Shinya Kina\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/archives\\\/7236\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/archives\\\/7236\\\/\"},\"author\":{\"name\":\"Shinya Kina\",\"@id\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/#\\\/schema\\\/person\\\/943e25ee9f0b45ec804fe3b39b637637\"},\"headline\":\"Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search\",\"datePublished\":\"2025-01-04T03:00:00+00:00\",\"dateModified\":\"2026-09-30T11:48:25+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/archives\\\/7236\\\/\"},\"wordCount\":71,\"publisher\":{\"@id\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/#organization\"},\"articleSection\":[\"\u539f\u8457\"],\"inLanguage\":\"ja\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/archives\\\/7236\\\/\",\"url\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/archives\\\/7236\\\/\",\"name\":\"Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search - \u5317\u91cc\u5927\u5b66\u533b\u5b66\u90e8 \u5206\u5b50\u907a\u4f1d\u5b66\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/#website\"},\"datePublished\":\"2025-01-04T03:00:00+00:00\",\"dateModified\":\"2026-09-30T11:48:25+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/archives\\\/7236\\\/#breadcrumb\"},\"inLanguage\":\"ja\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/archives\\\/7236\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/archives\\\/7236\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"\u30db\u30fc\u30e0\",\"item\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"\u539f\u8457\",\"item\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/archives\\\/category\\\/original-articles\\\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/#website\",\"url\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/\",\"name\":\"\u5317\u91cc\u5927\u5b66\u533b\u5b66\u90e8 \u5206\u5b50\u907a\u4f1d\u5b66\",\"description\":\"\u5206\u5b50\u907a\u4f1d\u5b66\",\"publisher\":{\"@id\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"ja\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/#organization\",\"name\":\"\u5317\u91cc\u5927\u5b66\u533b\u5b66\u90e8 \u5206\u5b50\u907a\u4f1d\u5b66\",\"url\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"ja\",\"@id\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/wp-content\\\/uploads\\\/2026\\\/05\\\/kitasato-logo-260520.png\",\"contentUrl\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/wp-content\\\/uploads\\\/2026\\\/05\\\/kitasato-logo-260520.png\",\"width\":1037,\"height\":362,\"caption\":\"\u5317\u91cc\u5927\u5b66\u533b\u5b66\u90e8 \u5206\u5b50\u907a\u4f1d\u5b66\"},\"image\":{\"@id\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/www.med.kitasato-u.ac.jp\\\/lab\\\/ksmg\\\/#\\\/schema\\\/person\\\/943e25ee9f0b45ec804fe3b39b637637\",\"name\":\"Shinya Kina\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search - \u5317\u91cc\u5927\u5b66\u533b\u5b66\u90e8 \u5206\u5b50\u907a\u4f1d\u5b66","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:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/archives\/7236\/","og_locale":"ja_JP","og_type":"article","og_title":"Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search - \u5317\u91cc\u5927\u5b66\u533b\u5b66\u90e8 \u5206\u5b50\u907a\u4f1d\u5b66","og_description":"Mutai H, Miya F, Nara K, ...","og_url":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/archives\/7236\/","og_site_name":"\u5317\u91cc\u5927\u5b66\u533b\u5b66\u90e8 \u5206\u5b50\u907a\u4f1d\u5b66","article_published_time":"2025-01-04T03:00:00+00:00","article_modified_time":"2026-09-30T11:48:25+00:00","og_image":[{"width":1037,"height":362,"url":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/wp-content\/uploads\/2026\/05\/kitasato-logo-260520.png","type":"image\/png"}],"author":"Shinya Kina","twitter_card":"summary_large_image","twitter_misc":{"\u57f7\u7b46\u8005":"Shinya Kina"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/archives\/7236\/#article","isPartOf":{"@id":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/archives\/7236\/"},"author":{"name":"Shinya Kina","@id":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/#\/schema\/person\/943e25ee9f0b45ec804fe3b39b637637"},"headline":"Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search","datePublished":"2025-01-04T03:00:00+00:00","dateModified":"2026-09-30T11:48:25+00:00","mainEntityOfPage":{"@id":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/archives\/7236\/"},"wordCount":71,"publisher":{"@id":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/#organization"},"articleSection":["\u539f\u8457"],"inLanguage":"ja"},{"@type":"WebPage","@id":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/archives\/7236\/","url":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/archives\/7236\/","name":"Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search - \u5317\u91cc\u5927\u5b66\u533b\u5b66\u90e8 \u5206\u5b50\u907a\u4f1d\u5b66","isPartOf":{"@id":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/#website"},"datePublished":"2025-01-04T03:00:00+00:00","dateModified":"2026-09-30T11:48:25+00:00","breadcrumb":{"@id":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/archives\/7236\/#breadcrumb"},"inLanguage":"ja","potentialAction":[{"@type":"ReadAction","target":["https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/archives\/7236\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/archives\/7236\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"\u30db\u30fc\u30e0","item":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/"},{"@type":"ListItem","position":2,"name":"\u539f\u8457","item":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/archives\/category\/original-articles\/"},{"@type":"ListItem","position":3,"name":"Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search"}]},{"@type":"WebSite","@id":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/#website","url":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/","name":"\u5317\u91cc\u5927\u5b66\u533b\u5b66\u90e8 \u5206\u5b50\u907a\u4f1d\u5b66","description":"\u5206\u5b50\u907a\u4f1d\u5b66","publisher":{"@id":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"ja"},{"@type":"Organization","@id":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/#organization","name":"\u5317\u91cc\u5927\u5b66\u533b\u5b66\u90e8 \u5206\u5b50\u907a\u4f1d\u5b66","url":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/","logo":{"@type":"ImageObject","inLanguage":"ja","@id":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/#\/schema\/logo\/image\/","url":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/wp-content\/uploads\/2026\/05\/kitasato-logo-260520.png","contentUrl":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/wp-content\/uploads\/2026\/05\/kitasato-logo-260520.png","width":1037,"height":362,"caption":"\u5317\u91cc\u5927\u5b66\u533b\u5b66\u90e8 \u5206\u5b50\u907a\u4f1d\u5b66"},"image":{"@id":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/#\/schema\/person\/943e25ee9f0b45ec804fe3b39b637637","name":"Shinya Kina"}]}},"_links":{"self":[{"href":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/wp-json\/wp\/v2\/posts\/7236","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/wp-json\/wp\/v2\/comments?post=7236"}],"version-history":[{"count":2,"href":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/wp-json\/wp\/v2\/posts\/7236\/revisions"}],"predecessor-version":[{"id":7240,"href":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/wp-json\/wp\/v2\/posts\/7236\/revisions\/7240"}],"wp:attachment":[{"href":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/wp-json\/wp\/v2\/media?parent=7236"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/wp-json\/wp\/v2\/categories?post=7236"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.med.kitasato-u.ac.jp\/lab\/ksmg\/wp-json\/wp\/v2\/tags?post=7236"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}