CINXE.COM
Online First Articles
<!DOCTYPE html PUBLIC "-//W3C//DTD XHTML 1.0 Strict//EN" "http://www.w3.org/TR/xhtml1/DTD/xhtml1-strict.dtd"> <html xmlns="http://www.w3.org/1999/xhtml" xml:lang="en" lang="en"> <head> <meta http-equiv="Content-Type" content="text/html; charset=UTF-8" /> <title>Online First Articles </title> <meta name="googlebot" content="NOODP" /> <meta name="description" content="An open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information." /> <meta name="HW.ad-path" content="/content/early/recent" /> <link rel="stylesheet" type="text/css" media="all" href="/shared/css/hw-global.css" /> <link rel="stylesheet" type="text/css" media="print" href="/shared/css/hw-print.css" /> <link rel="stylesheet" type="text/css" media="all" href="/shared/css/standard-designs/design2/main.css" /> <link rel="stylesheet" type="text/css" media="all" href="/shared/css/standard-designs/design25/main.css" /> <link rel="stylesheet" type="text/css" media="all" href="/shared/css/standard-designs/design2/main.css" /> <link rel="stylesheet" type="text/css" media="all" href="/publisher/css/hw-cshljnls-global.css" /> <link rel="stylesheet" type="text/css" media="all" href="/shared/css/hw-citation-2.0-hacks.css" /> <link rel="stylesheet" type="text/css" media="print" href="/publisher/css/hw-cshljnls-print.css" /> <link rel="stylesheet" type="text/css" media="all" href="/local/css/hw-local-global.css" /> <link rel="stylesheet" type="text/css" media="all" href="/shared/css/hw-page-toc.css" /> <link rel="stylesheet" type="text/css" media="all" href="/publisher/css/hw-cshljnls-page-toc.css" /> <link rel="stylesheet" type="text/css" media="all" href="/publisher/css/hw-cshljnls-page-early.css" /> <link rel="stylesheet" type="text/css" media="all" href="/local/css/hw-local-page-toc.css" /> <link rel="stylesheet" type="text/css" media="all" href="/local/css/hw-local-global-citation.css" /> <link rel="stylesheet" type="text/css" media="all" href="/site/misc/custom-global.css" /> <link rel="alternate" type="application/rss+xml" title="Cold Spring Harb Mol Case Stud Ahead-of-Print RSS" href="/rss/ahead.xml" /><script type="text/javascript" id="session-d228107863e1">var callbackToken='515D187A45F7756';</script><script type="text/javascript" src="/shared/js/jquery-min.js"></script><script type="text/javascript" src="/shared/js/fingerprint.js"></script><script type="text/javascript" src="/shared/js/hw-shared.js"></script><script type="text/javascript" src="/shared/js/design/hw-design1.js"></script><script type="text/javascript" src="/shared/js/design/hw-design1.js"></script><script type="text/javascript" src="/publisher/js/cshl-shared.js"></script><script type="text/javascript" src="/shared/js/util/hw-floatabs.js"></script><script type="text/javascript" src="/site/misc/custom-global.js"></script></head> <body> <div class="hw-gen-page pagetype-content" id="pageid-pap-index"> <div id="header"> <a href="/"><img title="Cold Spring Harbor Molecular Case Studies" alt="Cold Spring Harbor Molecular Case Studies" width="390" height="83" src="/local/img/journal_logo.png" /></a> <p id="skip-link"> <a href="#content-block">Skip to main page content</a> </p> <ul class="button-list header-buttons"> <li class="first"><a href="/" title="HOME"><span>HOME</span></a></li> <li><a href="/site/misc/about.xhtml" title="ABOUT"><span>ABOUT</span></a></li> <li><a href="/content/by/year" title="ARCHIVE"><span>ARCHIVE</span></a></li> <li><a href="http://submit.molecularcasestudies.org" title="SUBMIT"><span>SUBMIT</span></a></li> <li><a href="/site/misc/ifora.xhtml" title="AUTHOR INFO"><span>AUTHOR INFO</span></a></li> <li><a href="/site/misc/adinfo.xhtml" title="ADVERTISE"><span>ADVERTISE</span></a></li> <li><a href="/site/misc/alertland.xhtml" title="ALERTS / RSS"><span>ALERTS / RSS</span></a></li> <li><a href="/feedback" title="CONTACT"><span>CONTACT</span></a></li> <li class="last"><a href="/help/" title="HELP"><span>HELP</span></a></li> </ul> <div class="header-qs"> <form class="searchbox" action="/search" method="get"> <div> <label for="header-qs-input" id="header-qs-search-label">Search for Keyword:</label> <input value="" title="Search Cold Spring Harbor Molecular Case Studies" type="text" name="fulltext" id="header-qs-input" /><input type="hidden" name="submit" value="yes" /><label for="header-qs-search" id="header-qs-search-label">GO</label><input value="GO" alt="Link: Go" type="image" id="header-qs-search-go" src="/shared/img/standard-design/design2/go.gif" /> </div> <div class="adv-search-link"><a href="/search">Advanced Search</a></div> </form> </div> <div class="header-ac-elements"> <div id="authstring" class="suppress-header-login"> </div> <div id="hdr-login" class="suppress-header-login"></div> </div> <div class="bar"> <div class="bar-inner"></div> </div> </div> <div id="content-block"> <div id="pap-header"> <h1>Early Release Articles</h1> <p class="pap-last-modified">Last updated <span class="pap-last-modified-date"></span></p> <div class="pap-about-text"> <p>Early Release Articles are published ahead of the issue in which they appear. Early Release Articles are usually PDFs of Accepted Manuscripts that have been peer reviewed and accepted for publication but are not yet copyedited or typeset. They are posted as submitted by the authors and do not reflect the changes that will be made before final publication. Each Accepted Manuscript remains on the Early Release Articles page until it is replaced by the final version at the time of full-issue publication. </p> </div> </div> <form method="get" action="/gca"> <div class="gca-buttons"> <input type="reset" name="reset" value="Clear" /> <input type="submit" name="submit" value="Get All Checked Abstracts" /> </div> </form> </div> <div id="col-2"> <div class="sidebar pap-view"> <a href="/content/early/by/section" title="View by section">View by section</a> </div> <div class="sidebar pap-subscribe"> <h4><span>Subscribe to Early Release Articles </span></h4> <ul> <li><a href="/cgi/alerts/etoc" title="eTOC signup">Email (eTOCs)</a></li> <li><a class="rss-link" href="/rss">RSS syndication</a></li> </ul> </div> <div class="content-box" id="author_chat"> <div class="cb-contents"> <h3 class="cb-contents-header"> <span>In the News</span> </h3> <center> <a href="/site/misc/video.html" onclick="newWindow(this.href, 'popup', 650, 500, 1, 1, 0, 0, 0, 1, 0); return false;"> <img alt="Video" src="/site/misc/images/video.jpg" style="margin-top:15px;margin-bottom:4px;" /> </a> </center> <div style="padding-left:2px;padding-right:2px;"> <a href="/site/misc/video.html" onclick="newWindow(this.href, 'popup', 650, 500, 1, 1, 0, 0, 0, 1, 0); return false;" style="font-size:8pt;">Click to see a news video about this article</a> </div> </div> <script type="text/javascript" src="/site/misc/figure_liba.js"></script> </div> <ul class="tower-ads"> <li class="no-ad tower_col_2"><span> </span></li> </ul> </div> <div id="col-3"> <div class="content-box" id="sidebar-current-issue"> <div class="cb-contents"> <h3 class="cb-contents-header"><span>Current Issue</span></h3> <div class="cb-section"> <ol> <li><span><a href="/content/current" rel="current-issue">December 2023, 9 (4)</a></span></li> </ol> </div> <div class="cb-section"> <ol> <li> <div class="current-issue"><a href="/content/current" rel="current-issue"><img src="/content/9/4.cover.gif" width="67" height="89" alt="Current Issue" /></a></div> </li> </ol> </div> <cb:item xmlns:cb="http://schema.highwire.org/Site/Content-Box"> <div class="cb-section collapsible default-closed" id="sidebar-cur-issue-coverlines"> <h4 class="cb-section-header"> <span>Featured Articles</span> </h4> <ul> <li> <a href="/content/9/4/a006275.full">Precision Medicine in Practice: WGS/RNA-seq analysis in a rare and aggressive pediatric glioma</a> </li> <li> <a href="/content/9/4/a006295.full">Case report of a child with two rare variants in electron transport chain subunit <em>UQCRC2</em> </a> </li> <li> <a href="/content/9/4/a006293.full"> <em>TRPM3</em> missense variant identification in a patient with developmental delay and manifestations of cerebral palsy</a> </li> <li> <a href="/content/9/4/a006294.full">Paternally inherited <em>CDX2</em> variant in siblings with genitourinary system malformations</a> </li> </ul> </div> </cb:item> </div> </div> <div id="sidebar-global-nav"> <ul class="button-list pub-links"> <li class="first"><a href="/content/early/recent" title="Early Release Articles"><span>Early Release Articles</span></a></li> </ul> </div> <ul class="tower-ads"> <li class="no-ad tower_col_3"><span> </span></li> </ul> </div> <div id="footer"> <div class="bar"> <div class="footer-group footer-col-left"> <ul class="button-list footer-buttons"> <li class="first"><a href="/" title="Home"><span>Home</span></a></li> <li><a href="/site/misc/about.xhtml" title="About"><span>About</span></a></li> <li><a href="/content/by/year" title="Archive"><span>Archive</span></a></li> <li><a href="http://submit.molecularcasestudies.org" title="Submit"><span>Submit</span></a></li> <li><a href="/site/misc/adinfo.xhtml" title="Advertise"><span>Advertise</span></a></li> <li><a href="/site/misc/alertland.xhtml" title="Alerts / RSS"><span>Alerts / RSS</span></a></li> <li class="last"><a href="/site/misc/ifora.xhtml" title="Author Info"><span>Author Info</span></a></li> </ul> <p class="copyright"><a href="http://www.cshlpress.com/" rel="external-nw">Copyright 漏 2024 by Cold Spring Harbor Laboratory Press</a></p> </div> <div class="footer-group footer-col-right"> <ul class="issns"> <li> <span>Online ISSN: </span> <span class="issn">2373-2873</span> </li> </ul> </div> </div> <div class="block-2 sb-div"></div> <script type="text/javascript"> document.write(unescape("%3Cscript async src='https://www.googletagmanager.com/gtag/js?id=G-YDRSWYVDC4'%3E%3C/script%3E")); </script><script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-YDRSWYVDC4'); </script> </div><script type="text/javascript"> document.write(unescape("%3Cscript async src='https://www.googletagmanager.com/gtag/js?id=G-1CWXPJ6EVC'%3E%3C/script%3E")); </script><script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-1CWXPJ6EVC'); </script></div> </body> </html>