Table of Contents — June 2023, 9 (3)

<!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>Table of Contents — June 2023, 9 (3) </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="/cgi/content/toc/9/3" /> <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="/local/css/hw-local-page-toc.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-d61230718e1">var callbackToken='515D743F42BBEAA';</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/pages/hw-toc.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-toc"> <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="toc-header"> <h1>Table of Contents</h1><cite>June 2023; 9 (3)</cite> </div> <div class="section-break"> </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> <div class="toc-level level1 pub-section-MINI-REVIEW first-item no-children no-parent"> <h2 id="MINI-REVIEW"><span><a class="toc-section-return" href="#content-block"></a>MINI-REVIEW</span></h2> <ul class="cit-list"> <li class="cit creative-commons creative-commons-by-nc/4.0/ has-earlier-version toc-cit"> <div class="cit-form-select"><input class="gca-checkbox" type="checkbox" name="gca" value="cshmcs;9/3/a006285" /><label for="gca-form-cb-d49221872e485MINI-REVIEW">Select this article</label></div> <div class="cit-metadata"> <h4 class="cit-first-element cit-title-group">Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care </h4> <ul class="cit-auth-list"> <li class="first-item"><span class="cit-auth cit-auth-type-author">Alexis D. Levine</span><span class="cit-sep cit-sep-two-item-separator"> and</span></li> <li class="last-item"><span class="cit-auth cit-auth-type-author">Wendy K. Chung</span></li> </ul> <cite><abbr title="Molecular Case Studies" class="site-title">Cold Spring Harb Mol Case Stud</abbr> <span class="cit-print-date">June 2023, </span><span class="cit-vol">9<span class="cit-sep cit-sep-after-article-vol">:</span> </span><span class="cit-elocation">a006285</span><span class="cit-sep cit-sep-after-article-pages">; </span><span class="cit-ahead-of-print-date"><span class="cit-sep cit-sep-before-article-ahead-of-print-date"> Published in Advance </span>June 20, 2023 </span></cite> </div> <div class="cit-extra"> <ul class="cit-views"> <li class="first-item"><a href="/content/9/3/a006285.abstract" rel="abstract">Abstract</a></li> <li><a href="/content/9/3/a006285.full" rel="full-text">Full Text</a></li> <li class="last-item"><a href="/content/9/3/a006285.full.pdf+html" rel="full-text.pdf">Full Text (PDF)</a></li> </ul> </div> </li> </ul> </div> <div class="gca-buttons"> <input type="reset" name="reset" value="Clear" /> <input type="submit" name="submit" value="Get All Checked Abstracts" /> </div> <div class="toc-level level1 pub-section-RESEARCHREPORTS no-children no-parent"> <h2 id="RESEARCHREPORTS"><span><a class="toc-section-return" href="#content-block"></a>RESEARCH REPORTS</span></h2> <ul class="cit-list"> <li class="cit creative-commons creative-commons-by-nc/4.0/ has-earlier-version toc-cit"> <div class="cit-form-select"><input class="gca-checkbox" type="checkbox" name="gca" value="cshmcs;9/3/a006289" /><label for="gca-form-cb-d49221872e494RESEARCHREPORTS">Select this article</label></div> <div class="cit-metadata"> <h4 class="cit-first-element cit-title-group">Perinatal-lethal nonimmune fetal hydrops attributed to <em>MECOM</em>-associated bone marrow failure </h4> <ul class="cit-auth-list"> <li class="first-item"><span class="cit-auth cit-auth-type-author">Camille A. Dash</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Jill A. Madden</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Christy Cummings</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Melissa Rose</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Sheria D. Wilson</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Mari Mori</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Pankaj B. Agrawal</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Bimal P. Chaudhari</span><span class="cit-sep cit-sep-separator">, </span></li> <li class="last-item"><span class="cit-sep cit-sep-last-separator">and </span><span class="cit-auth cit-auth-type-author">Monica H. Wojcik</span></li> </ul> <cite><abbr title="Molecular Case Studies" class="site-title">Cold Spring Harb Mol Case Stud</abbr> <span class="cit-print-date">June 2023, </span><span class="cit-vol">9<span class="cit-sep cit-sep-after-article-vol">:</span> </span><span class="cit-elocation">a006289</span><span class="cit-sep cit-sep-after-article-pages">; </span><span class="cit-ahead-of-print-date"><span class="cit-sep cit-sep-before-article-ahead-of-print-date"> Published in Advance </span>May 25, 2023 </span></cite> </div> <div class="cit-extra"> <ul class="cit-views"> <li class="first-item"><a href="/content/9/3/a006289.abstract" rel="abstract">Abstract</a></li> <li><a href="/content/9/3/a006289.full" rel="full-text">Full Text</a></li> <li><a href="/content/9/3/a006289.full.pdf+html" rel="full-text.pdf">Full Text (PDF)</a></li> <li class="last-item"><a href="/content/9/3/a006289/suppl/DC1" rel="supplemental-data" class="dslink-supplemental-material">Supplemental Material</a></li> </ul> </div> </li> <li class="cit creative-commons creative-commons-by-nc/4.0/ has-earlier-version toc-cit"> <div class="cit-form-select"><input class="gca-checkbox" type="checkbox" name="gca" value="cshmcs;9/3/a006233" /><label for="gca-form-cb-d49221872e495RESEARCHREPORTS">Select this article</label></div> <div class="cit-metadata"> <h4 class="cit-first-element cit-title-group">Clinical case report: mosaic <em>ANK3</em> pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay </h4> <ul class="cit-auth-list"> <li class="first-item"><span class="cit-auth cit-auth-type-author">Xiaolan Fang</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Timothy Fee</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Jessica Davis</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Elliot S. Stolerman</span><span class="cit-sep cit-sep-separator">, </span></li> <li class="last-item"><span class="cit-sep cit-sep-last-separator">and </span><span class="cit-auth cit-auth-type-author">Raymond C. Caylor</span></li> </ul> <cite><abbr title="Molecular Case Studies" class="site-title">Cold Spring Harb Mol Case Stud</abbr> <span class="cit-print-date">June 2023, </span><span class="cit-vol">9<span class="cit-sep cit-sep-after-article-vol">:</span> </span><span class="cit-elocation">a006233</span><span class="cit-sep cit-sep-after-article-pages">; </span><span class="cit-ahead-of-print-date"><span class="cit-sep cit-sep-before-article-ahead-of-print-date"> Published in Advance </span>June 1, 2023 </span></cite> </div> <div class="cit-extra"> <ul class="cit-views"> <li class="first-item"><a href="/content/9/3/a006233.abstract" rel="abstract">Abstract</a></li> <li><a href="/content/9/3/a006233.full" rel="full-text">Full Text</a></li> <li><a href="/content/9/3/a006233.full.pdf+html" rel="full-text.pdf">Full Text (PDF)</a></li> <li class="last-item"><a href="/content/9/3/a006233/suppl/DC1" rel="supplemental-data" class="dslink-supplemental-material">Supplemental Material</a></li> </ul> </div> </li> <li class="cit creative-commons creative-commons-by-nc/4.0/ toc-cit"> <div class="cit-form-select"><input class="gca-checkbox" type="checkbox" name="gca" value="cshmcs;9/3/a006279" /><label for="gca-form-cb-d49221872e496RESEARCHREPORTS">Select this article</label></div> <div class="cit-metadata"> <h4 class="cit-first-element cit-title-group">Evaluation of hypereosinophilia in a case of <em>FLT3</em>-mutant acute myeloid leukemia treated with gilteritinib </h4> <ul class="cit-auth-list"> <li class="first-item"><span class="cit-auth cit-auth-type-author">Leslie N. Martinez-Gutierrez</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Blake C. Burgher</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Manuel J. Glynias</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Daniel Alvarado</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Elizabeth A. Griffiths</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Sean T. Glenn</span><span class="cit-sep cit-sep-separator">, </span></li> <li class="last-item"><span class="cit-sep cit-sep-last-separator">and </span><span class="cit-auth cit-auth-type-author">Pamela J. Sung</span></li> </ul> <cite><abbr title="Molecular Case Studies" class="site-title">Cold Spring Harb Mol Case Stud</abbr> <span class="cit-print-date">June 2023, </span><span class="cit-vol">9<span class="cit-sep cit-sep-after-article-vol">:</span> </span><span class="cit-elocation">a006279</span></cite> </div> <div class="cit-extra"> <ul class="cit-views"> <li class="first-item"><a href="/content/9/3/a006279.abstract" rel="abstract">Abstract</a></li> <li><a href="/content/9/3/a006279.full" rel="full-text">Full Text</a></li> <li class="last-item"><a href="/content/9/3/a006279.full.pdf+html" rel="full-text.pdf">Full Text (PDF)</a></li> </ul> </div> </li> <li class="cit creative-commons creative-commons-by/4.0/ toc-cit"> <div class="cit-form-select"><input class="gca-checkbox" type="checkbox" name="gca" value="cshmcs;9/3/a006281" /><label for="gca-form-cb-d49221872e497RESEARCHREPORTS">Select this article</label></div> <div class="cit-metadata"> <h4 class="cit-first-element cit-title-group"><em>FKBP14</em> kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report </h4> <ul class="cit-auth-list"> <li class="first-item"><span class="cit-auth cit-auth-type-author">Amy Wiegand</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Rama Kastury</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Arpita Neogi</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Arya Mani</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Allen Bale</span><span class="cit-sep cit-sep-separator">, </span></li> <li class="last-item"><span class="cit-sep cit-sep-last-separator">and </span><span class="cit-auth cit-auth-type-author">Allison Cox</span></li> </ul> <cite><abbr title="Molecular Case Studies" class="site-title">Cold Spring Harb Mol Case Stud</abbr> <span class="cit-print-date">June 2023, </span><span class="cit-vol">9<span class="cit-sep cit-sep-after-article-vol">:</span> </span><span class="cit-elocation">a006281</span></cite> </div> <div class="cit-extra"> <ul class="cit-views"> <li class="first-item"><a href="/content/9/3/a006281.abstract" rel="abstract">Abstract</a></li> <li><a href="/content/9/3/a006281.full" rel="full-text">Full Text</a></li> <li><a href="/content/9/3/a006281.full.pdf+html" rel="full-text.pdf">Full Text (PDF)</a></li> <li class="last-item"><a href="/content/9/3/a006281/suppl/DC1" rel="supplemental-data" class="dslink-supplemental-material">Supplemental Material</a></li> </ul> </div> </li> </ul> </div> <div class="gca-buttons"> <input type="reset" name="reset" value="Clear" /> <input type="submit" name="submit" value="Get All Checked Abstracts" /> </div> <div class="toc-level level1 pub-section-FOLLOW-UPREPORT last-item no-children no-parent"> <h2 id="FOLLOW-UPREPORT"><span><a class="toc-section-return" href="#content-block"></a>FOLLOW-UP REPORT</span></h2> <ul class="cit-list"> <li class="cit creative-commons creative-commons-by-nc/4.0/ has-earlier-version toc-cit"> <div class="cit-form-select"><input class="gca-checkbox" type="checkbox" name="gca" value="cshmcs;9/3/a006271" /><label for="gca-form-cb-d49221872e506FOLLOW-UPREPORT">Select this article</label></div> <div class="cit-metadata"> <h4 class="cit-first-element cit-title-group">Contributions of rare and common variation to early-onset and atypical dementia risk </h4> <ul class="cit-auth-list"> <li class="first-item"><span class="cit-auth cit-auth-type-author">Carter A. Wright</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Jared W. Taylor</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Meagan Cochran</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">James M.J. Lawlor</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Belle A. Moyers</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Michelle D. Amaral</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Zachary T. Bonnstetter</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Princess Carter</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Veronika Solomon</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Richard M. Myers</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Marissa Natelson Love</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">David S. Geldmacher</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Sara J. Cooper</span><span class="cit-sep cit-sep-separator">, </span></li> <li><span class="cit-auth cit-auth-type-author">Erik D. Roberson</span><span class="cit-sep cit-sep-separator">, </span></li> <li class="last-item"><span class="cit-sep cit-sep-last-separator">and </span><span class="cit-auth cit-auth-type-author">J. Nicholas Cochran</span></li> </ul> <cite><abbr title="Molecular Case Studies" class="site-title">Cold Spring Harb Mol Case Stud</abbr> <span class="cit-print-date">June 2023, </span><span class="cit-vol">9<span class="cit-sep cit-sep-after-article-vol">:</span> </span><span class="cit-elocation">a006271</span><span class="cit-sep cit-sep-after-article-pages">; </span><span class="cit-ahead-of-print-date"><span class="cit-sep cit-sep-before-article-ahead-of-print-date"> Published in Advance </span>June 12, 2023 </span></cite> </div> <div class="cit-extra"> <ul class="cit-views"> <li class="first-item"><a href="/content/9/3/a006271.abstract" rel="abstract">Abstract</a></li> <li><a href="/content/9/3/a006271.full" rel="full-text">Full Text</a></li> <li><a href="/content/9/3/a006271.full.pdf+html" rel="full-text.pdf">Full Text (PDF)</a></li> <li class="last-item"><a href="/content/9/3/a006271/suppl/DC1" rel="supplemental-data" class="dslink-supplemental-material">Supplemental Material</a></li> </ul> </div> </li> </ul> </div> <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-issue-nav sidebar-nav"> <a href="/content/9/2.toc" title="Previous issue" class="previous">« Previous</a><span class="issue-nav-sep"> | </span><a href="/content/9/4.toc" title="Next issue" class="next">Next Issue »</a> </div> <div class="sidebar toc-navigation"> <h4><span>This Issue</span></h4> <cite> <span class="toc-top-pub-date"> June 2023; 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Table of Contents — June 2023, 9 (3)