CINXE.COM
Molecular Case Studies, a Journal of Precision Medicine
<!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> Molecular Case Studies, a Journal of Precision Medicine </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="/" /> <link rel="stylesheet" type="text/css" media="all" href="/shared/css/hw-global.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="all" href="/local/css/hw-local-global.css" /> <link rel="stylesheet" type="text/css" media="all" href="/publisher/css/hw-cshljnls-page-home.css" /> <link rel="stylesheet" type="text/css" media="all" href="/local/css/hw-local-page-home.css" /> <link rel="stylesheet" type="text/css" media="all" href="/site/misc/custom-global.css" /> <link rel="alternate" type="application/rss+xml" title="RSS feed" href="/rss/current.xml" /><script type="text/javascript" id="session-d162194255e1">var callbackToken='5152065F7DA4C98';</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="/publisher/js/cshljnls-home.js"></script><script type="text/javascript" src="/site/misc/custom-global.js"></script></head> <body> <div class="hw-gen-page" id="pageid-home"> <div id="header"> <a href="/"></a><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" /> <p id="skip-link"> <a href="#content-block">Skip to main page content</a> </p> <ul class="button-list header-buttons"> <li class="no-link first"><span>HOME</span></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 class="main-block"> <div class="cover-img-wrap"> <a id="cover-image" href="/content/current"> <img src="/content/vol9/issue4/home_cover.gif" title="Current Issue Cover" alt="Current Issue Cover" /> </a> </div> <h2 class="under-cover-info"><a title="Current Issue" href="/content/current" id="current-issue-label" class="current-link"><span class="current-date">December 2023</span></a></h2> <div class="cshl-announcements"> <h3> <strong> <a href="http://molecularcasestudies.cshlp.org/content/9/2.toc">Special Issue – Cancers</a> </strong> </h3> <h3> <strong>Average Turnaround Times</strong> </h3> <p>Initial decision to review: 5-7 days after submission</p> <p>Submission to first decision: 6 weeks after submission</p> <p>Submission to acceptance: 3-4 months</p> <p>Publication of accepted manuscripts: 5-7 days after acceptance</p> </div> <div class="other-pub"> <style> #mypubs { padding-left:2px; padding-top:0px; padding-right:0px; line-height:1.0em; } #mypubs a { font-size:85%; color:#666666; line-height:90%; } #mypubs a:hover { border-bottom:1px dotted #333333; color:#333333; } #mypubs a:visited { border:0px; color:#666666; } </style> <h2 class="under-cover-info" style="margin-left:0;margin-bottom:60px;"> <a href="/site/misc/reasons_to_publish.xhtml">Reasons to Publish</a> </h2> <table style="padding:0;"> <tr> <td style="vertical-align:top;padding-right:10px;"> <img src="site/misc/covers/logo_sm.gif" alt="Other Cold Spring Harbor Publications" /> </td> <td> <table style="padding:0;"> <tr> <td> <img src="site/misc/covers/otherpub-1.gif" alt="Other Cold Spring Harbor Publications" /> </td> </tr> <tr> <td> <div id="mypubs"> <a href="http://cshperspectives.org" rel="external-nw">Cold Spring Harbor Perspectives in Biology</a> <img src="site/misc/covers/dot.gif" alt="" width="5" /> <a href="http://perspectivesinmedicine.org/" rel="external-nw">Cold Spring Harbor Perspectives in Medicine</a> <img src="site/misc/covers/dot.gif" alt="" width="5" /> <a href="http://cshprotocols.cshlp.org" rel="external-nw">Cold Spring Harbor Protocols</a> <img src="site/misc/covers/dot.gif" alt="" width="5" /> <a href="http://symposium.cshlp.org" rel="external-nw">Cold Spring Harbor Symposia</a> <img src="site/misc/covers/dot.gif" alt="" width="5" /> <a href="http://genome.cshlp.org/" rel="external-nw">Genome Research</a> <img src="site/misc/covers/dot.gif" alt="" width="5" /> <a href="http://genesdev.cshlp.org" rel="external-nw">Genes & Development</a> <img src="site/misc/covers/dot.gif" alt="" width="5" /> <a href="http://learnmem.cshlp.org" rel="external-nw">Learning & Memory</a> <img src="site/misc/covers/dot.gif" alt="" width="5" /> <a href="http://life-science-alliance.org" rel="external-nw">Life Science Alliance</a> <img src="site/misc/covers/dot.gif" alt="" width="5" /> <a href="http://rnajournal.cshlp.org" rel="external-nw">RNA</a> <img src="site/misc/covers/dot.gif" alt="" width="5" /> <a href="http://cshlpress.com" rel="external-nw">Books and Other Media</a> </div> </td> </tr> </table> </td> </tr> <tr> <td colspan="2"> <div id="csh_ban1" style="display:block;padding-left:8px;padding-top:24px;"></div> </td> </tr> </table> </div> </div> <div class="main-block"> <h2 class="current-issue"><a title="Current Issue" href="/content/current" id="current-issue-label" class="current-link">Current Issue<span class="sep">:</span> <span class="current-date">December 2023</span></a></h2> <ul class="jnl-links"> <li class="pap-link"> <h3><a href="/content/early/recent">Early Release Articles</a></h3> </li> <li class="sample-issue"> <h3><a href="content/by/year">Archive</a></h3> </li> <li class="archive-link"> <h3><a href="/site/misc/about.xhtml">About the Journal</a></h3> </li> <li class="search-link"> <h3><a href="/site/misc/alertland.xhtml">Sign Up for Alerts and RSS Feeds</a></h3> </li> </ul> <div class="in-this-issue"> <div class="in-this-issue"> <h2>Featured Articles</h2> <ul class="coverlines" style="padding-left:17px;"> <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> <div style="margin-top:18px;margin-bottom:18px;"> <h2 style="margin-top:9px;margin-bottom:14px;">An Interview with Editor-in-Chief Elaine Mardis</h2> <p>Richard Sever interviews Editor-in-Chief Elaine Mardis</p> <iframe frameborder="0" scrolling="auto" allowfullscreen="" height="197" src="https://www.youtube.com/embed/l8Z0zi4Ja-w" width="350"></iframe> </div> <ul style="border-top: 1px dotted #a95219;"> <li> <a href="https://twitter.com/molcasestud" class="twitterhl" rel="external-nw"> <img alt="Follow us on Twitter" src="site/misc/covers/twitter.gif" title="Twitter" /> </a> <a href="https://twitter.com/molcasestud" class="twitterhl" rel="external-nw">Follow us on Twitter</a> </li> </ul> <p style="margin-top:8px;padding-top:8px;font-size:90%;line-height:115%;"> <span class="s1"> <em>Cold Spring Harbor Molecular Case Studies</em> </span> — an open-access journal in precision medicine. Articles present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The aim is to rapidly share insights into disease development and treatment gained by the application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches to cancer, complex diseases, monogenic disorders, neurological conditions, and infectious disease. </p> </div> </div> <div class="content-block-clear sb-div"></div> </div> <div id="col-3"> <ul class="tower-ads"> <li class="no-ad homepage ad right"><span> </span></li> </ul> <div id="col-3-widget-space"> <script type="text/javascript" src="/site/misc/csh_lib_col3.js"></script> </div> <div id="col-3-widget-placeholder"> <ul class="tower-ads"> <li> <a href="https://cshlpress.com/default.tpl?action=full&--eqskudatarq=1232"> <img class="adborder0" title="Lab Dynamics" src="/site/misc/images/ld_3.jpg" alt="Lab Dynamics" /> </a> </li> </ul> </div> </div> <div id="footer"> <div class="bar"> <div class="footer-group footer-col-left"> <ul class="button-list footer-buttons"> <li class="no-link first"><span>Home</span></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 © 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 id="sub-footer"> <div id="intl-content" class="intl-content"> <p><span id="intl-header">For an alternate route to Cold Spring Harbor Molecular Case Studies use this URL:</span> <a href="http://intl-molecularcasestudies.cshlp.org"> http://intl-molecularcasestudies.cshlp.org </a><span class="intl-help">[<a href="/help/using/alternate-route">More Information</a>]</span></p> </div> <ul class="footer-icon-group"> <li> <a target="_blank" href="http://highwire.stanford.edu/"> <img class="hw-img" border="0" alt="HighWire Press" height="51" width="55" src="/shared/img/common/hplogo.gif" /> </a> </li> <li> <a target="_blank" href="http://www.crossref.org/fundref/"> <img border="0" alt="CSHL" height="39.3" width="100" src="/local/img/logo_fundref.png" /> </a> </li> </ul> </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>