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597 lines
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119 KiB
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<div class="search"><div class="search_form"><label for="database" class="offscreen_noflow">Search database</label><select id="database"><optgroup label="Recent"><option value="pmc" selected="selected" data-ac_dict="pmc-search-autocomplete">PMC</option><option value="books">Books</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="sra" class="last">SRA</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene">Gene</option><option value="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen" data-ac_dict="medgen_disease_name">MedGen</option><option value="mesh" data-ac_dict="mesh_suggestions">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc" data-ac_dict="pmc-search-autocomplete">PMC</option><option value="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search PMC. Use up and down arrows to choose an item from the autocomplete." value=""Am J Hum Genet"[jour]" class="jig-ncbiclearbutton jig-ncbiautocomplete" data-jigconfig="dictionary:'pmc-search-autocomplete',disableUrl:'NcbiSearchBarAutoComplCtrl'" autocomplete="off" data-sbconfig="ds:'no',pjs:'yes',afs:'yes'" /></div><button id="search" type="submit" class="button_search nowrap" cmd="go">Search</button></div></div><ul class="searchlinks inline_list"><set></set><li><a name="SaveSearch" title="Click to create an email alert for this search" href="/sites/myncbi/searches/save?db=pmc&qk=84455" id="SaveSearch">Create alert</a></li><li><a href="/pmc/journals/">Journal List</a></li><li><a href="/pmc/advanced">Advanced</a></li><li class="help"><a id="help" class="jig-ncbihelpwindow" target="ncbihelp" name="help" href="/books/NBK3825">Help</a></li></ul></div>
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<div><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailReport" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailFormat" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailCount" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailStart" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailSort" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.Email" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailSubject" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailText" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailQueryKey" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailHID" sid="1" type="hidden" value="1ny-UPGK2kc0b7nj57yJ0OFwPSnl-5U6XLOH0KX1ZI" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.QueryDescription" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.Key" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.Answer" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.Holding" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.HoldingFft" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.HoldingNdiSet" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.OToolValue" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.SubjectList" sid="1" type="hidden" value="" /></div><!-- hidden inputs -->
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</div>
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<div id="faceted_search" class="col two_col">
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<h2 class="offscreen_noflow">Result Filters</h2>
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<div class="facet_cont" data-db="pmc" data-default_grps="fg_types,fg_text_availability,fg_pubdate,fg_funding" data-sd="db:'pmc',op:'search',term:'%22Am%20J%20Hum%20Genet%22%5Bjour%5D',qk:'84455',linkname:'',idsfromresult:'',extra:''"><ul class="facet" data-filter_id="types" id="_types"><li class="filter_grp "><div class="clearfix"><h3>Article attributes</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="associateddata">Associated Data</a></li><li class="fil_val"><a href="#" data-value_id="manuscripts">Author manuscripts</a></li><li class="fil_val"><a href="#" data-value_id="digitazed">Digitized back issues</a></li><li class="fil_val"><a href="#" data-value_id="medline">MEDLINE journals</a></li><li class="fil_val"><a href="#" data-value_id="openaccess">Open access</a></li><li class="fil_val"><a href="#" data-value_id="preprint">Preprints</a></li><li class="fil_val"><a href="#" data-value_id="retracted">Retracted</a></li></ul></li></ul><ul class="facet" data-filter_id="text_availability" id="_text_availability"><li class="filter_grp "><div class="clearfix"><h3>Text availability</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="embargoed">Include embargoed articles</a></li></ul></li></ul><ul class="facet" data-filter_id="pubdate" data-ds="yes" id="_pubdate"><li class="filter_grp"><div class="clearfix"><h3>Publication date</h3><a href="#" data-value_id="" class="clear clear_hide">clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="y_1">1 year</a></li><li class="fil_val"><a href="#" data-value_id="y_5">5 years</a></li><li class="fil_val"><a href="#" data-value_id="y_10">10 years</a></li><li class="daterange"><a id="facet_date_rangepubdate" href="#facet_date_range_divpubdate" class="jig-ncbipopper" data-jigconfig="triggerPosition: 'middle right', destPosition: 'middle left', hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '375px'">
|
||
Custom range...</a></li><div id="facet_date_range_divpubdate" style="display:none;" class="facets_dialog"><button class="ui-ncbipopper-close-button ui-ncbipopper-close-button-generated ui-state-default ui-corner-all ui-button-text-only ui-ncbibutton ui-ncbibutton-blue" generated="true" role="button" aria-disabled="false"><span class="ui-button-text">x</span></button><h4>Custom date range</h4><div><label class="offscreen_noflow" for="facet_date_st_yearpubdate">Start Year</label><input type="text" size="4" placeholder="YYYY" id="facet_date_st_yearpubdate" value="" class="input_date_ym" /><label class="offscreen_noflow" for="facet_date_st_monthpubdate">Start Month</label><input type="text" size="2" placeholder="MM" id="facet_date_st_monthpubdate" value="" class="input_date_ym" /><label class="offscreen_noflow" for="facet_date_st_daypubdate">Start Day</label><input type="text" size="2" placeholder="DD" id="facet_date_st_daypubdate" value="" /><span>to</span><label class="offscreen_noflow" for="facet_date_end_yearpubdate">End Year</label><input type="text" size="4" placeholder="YYYY" id="facet_date_end_yearpubdate" value="" class="input_date_ym" /><label class="offscreen_noflow" for="facet_date_end_monthpubdate">End Month</label><input type="text" size="2" placeholder="MM" id="facet_date_end_monthpubdate" value="" class="input_date_ym" /><label class="offscreen_noflow" for="facet_date_end_daypubdate">End Day</label><input type="text" size="2" placeholder="DD" id="facet_date_end_daypubdate" value="" /></div><div class="actions clearfix"><button class="jig-ncbibutton primary-action btn_date_apply" data-jigconfig="'color': 'ui-ncbibutton-blue'" id="facet_date_range_applypubdate">Apply</button><button class="jig-ncbibutton secondary-action btn_date_clear" data-jigconfig="'color': 'ui-ncbibutton-gray'" id="facet_date_range_clearpubdate">Clear</button></div></div></ul></li></ul><ul class="facet" data-filter_id="funding" id="_funding"><li class="filter_grp "><div class="clearfix"><h3>Research Funder</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="funder_nih">NIH</a></li><li class="fil_val"><a href="#" data-value_id="funder_ahrq">AHRQ</a></li><li class="fil_val"><a href="#" data-value_id="funder_acl">ACL</a></li><li class="fil_val"><a href="#" data-value_id="funder_aspr">ASPR</a></li><li class="fil_val"><a href="#" data-value_id="funder_cdc">CDC</a></li><li class="fil_val"><a href="#" data-value_id="funder_dhs">DHS</a></li><li class="fil_val"><a href="#" data-value_id="funder_epa">EPA</a></li><li class="fil_val"><a href="#" data-value_id="funder_fda">FDA</a></li><li class="fil_val"><a href="#" data-value_id="funder_nasa">NASA</a></li><li class="fil_val"><a href="#" data-value_id="funder_nist">NIST</a></li><li class="fil_val"><a href="#" data-value_id="funder_va">VA</a></li><li class="more"><a href="#funding_more" data-value_id="fetch_more" data-jigconfig=" hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '300px'">Customize ...</a><div style="display:none;" id="funding_more"></div></li></ul></li></ul><ul class="facet facet_reset"><li><a href="#" data-value_id="reset">Clear all</a></li></ul><ul class="facet_tools"><li><a id="more_filter_groups_link" href="#more_filter_groups" class="jig-ncbipopper" data-jigconfig="triggerPosition: 'middle right', destPosition: 'top left', hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '180px'">
|
||
Show additional filters</a></li><div id="more_filter_groups" style="display:none;" class="facets_dialog"><button class="ui-ncbipopper-close-button ui-ncbipopper-close-button-generated ui-state-default ui-corner-all ui-button-text-only ui-ncbibutton ui-ncbibutton-blue" generated="true" role="button" aria-disabled="false"><span class="ui-button-text">x</span></button><h4>Additional filters</h4><ul class="filter_groups_more facet"><li><input type="checkbox" id="fg_types" /><label for="fg_types">Article attributes</label></li><li><input type="checkbox" id="fg_text_availability" /><label for="fg_text_availability">Text availability</label></li><li><input type="checkbox" id="fg_pubdate" data-always_show="yes" /><label for="fg_pubdate">Publication date</label></li><li><input type="checkbox" id="fg_funding" data-always_show="yes" /><label for="fg_funding">Research Funder</label></li><li><input id="fg_field_search" type="checkbox" /><label for="fg_field_search">Search fields</label></li></ul><div class="actions clearfix"><button class="filter_groups_more_apply jig-ncbibutton primary-action" id="filter_groups_apply" data-jigconfig="'color': 'ui-ncbibutton-blue'">Show</button></div></div></ul><input name="EntrezSystem2.PEntrez.PMC.Facets.FacetsUrlFrag" sid="1" type="hidden" value="filters=" /><input name="EntrezSystem2.PEntrez.PMC.Facets.FacetSubmitted" sid="1" type="hidden" value="false" /><input name="EntrezSystem2.PEntrez.PMC.Facets.BMFacets" sid="1" type="hidden" value="" /></div>
|
||
</div>
|
||
<div id="maincontent" class="col seven_col">
|
||
<div class="content">
|
||
<div class="results_settings"><h4 class="left display_settings content_header jig-ncbipopper" id="display_set" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center',destSelector : '#display_settings_menu', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : true, multipleHandlesSelector:'#display_set ~ ul.display_settings a', groupName: 'entrez_pg'"><a href="#" class="tgt_dark">Display Settings:</a></h4><ul class="inline_list left display_settings"><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display" sid="2" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display">Summary,</a></li><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display" sid="3" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display">20 per page,</a></li><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display" sid="4" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display">Sorted by Default order</a></li></ul><div id="display_settings_menu" class="disp_settings tabPopper"><fieldset class="format"><legend>Format</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation" sid="1" value="DocSum" format="" id="DocSum" checked="true" /><label for="DocSum">Summary</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation" sid="2" value="DocSum" format="text" id="DocSumtext" /><label for="DocSumtext">Summary (text)</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation" sid="3" value="MEDLINE" format="text" id="MEDLINEtext" /><label for="MEDLINEtext">MEDLINE</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation" sid="4" value="uilist" format="text" id="uilisttext" /><label for="uilisttext">PMCID List</label></li></ul></fieldset><fieldset class="items"><legend>Items per page</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="1" value="5" id="ps5" /><label for="ps5">5</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="2" value="10" id="ps10" /><label for="ps10">10</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="3" value="20" id="ps20" checked="true" /><label for="ps20">20</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="4" value="50" id="ps50" /><label for="ps50">50</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="5" value="100" id="ps100" /><label for="ps100">100</label></li></ul></fieldset><fieldset class="sort"><legend>Sort by</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort" sid="1" value="none" id="none" checked="true" /><label for="none">Default order</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort" sid="2" value="PubDate" id="PubDate" /><label for="PubDate">Pub Date</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort" sid="3" value="Journal" id="Journal" /><label for="Journal">Journal</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort" sid="4" value="PmcLiveDate" id="PmcLiveDate" /><label for="PmcLiveDate">PMC Live Date</label></li></ul></fieldset><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SetDisplay" sid="1" class="button_apply ncbipopper-close-button">Apply</button></div><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto" data-jigconfig="triggerPosition:'bottom center', destPosition : 'top center',destSelector : '#send_to_menu', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu" class="tgt_dark">Send to:</a><script type="text/javascript">
|
||
jQuery(document).ready( function () {
|
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<div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11866953" class="ui-helper-hidden-accessible">Select item 11866953</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="1" type="checkbox" id="UidCheckBox11866953" value="11866953" /><span>1.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=1&ncbi_uid=11866953&link_uid=11866953&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11866953/" class="view">Population history and admixture of the Fulani people from the Sahel</a></div><div class="supp"><div class="desc">Cesar A. Fortes-Lima, Mame Y. Diallo, Václav Janoušek, Viktor Černý, Carina M. Schlebusch</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2025 Feb 6; </span>112(2): 261–275. <span class="">Published online 2025 Feb 6. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.12.015</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11866953</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=1&ncbi_uid=11866953&link_uid=11866953&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11866953/">Article</a><a ref="ordinalpos=1&ncbi_uid=11866953&link_uid=11866953&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11866953/pdf/main.pdf">PDF–4.2M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11866976" class="ui-helper-hidden-accessible">Select item 11866976</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="2" type="checkbox" id="UidCheckBox11866976" value="11866976" /><span>2.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=2&ncbi_uid=11866976&link_uid=11866976&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11866976/" class="view">Characterizing substructure via mixture modeling in large-scale genetic summary statistics</a></div><div class="supp"><div class="desc">Hayley R. Stoneman, Adelle M. Price, Nikole Scribner Trout, Riley Lamont, Souha Tifour, Nikita Pozdeyev, Colorado Center for Personalized Medicine, Kristy Crooks, Meng Lin, Nicholas Rafaels, Christopher R. Gignoux, Katie M. Marker, Audrey E. Hendricks</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2025 Feb 6; </span>112(2): 235–253. <span class="">Published online 2025 Jan 16. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.12.007</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11866976</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=2&ncbi_uid=11866976&link_uid=11866976&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11866976/">Article</a><a ref="ordinalpos=2&ncbi_uid=11866976&link_uid=11866976&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11866976/pdf/main.pdf">PDF–3.8M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11866971" class="ui-helper-hidden-accessible">Select item 11866971</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="3" type="checkbox" id="UidCheckBox11866971" value="11866971" /><span>3.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=3&ncbi_uid=11866971&link_uid=11866971&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11866971/" class="view">DNA-binding affinity and specificity determine the phenotypic diversity in <em>BCL11B</em>-related disorders</a></div><div class="supp"><div class="desc">Ivana Lessel, Anja Baresic, Ivan K. Chinn, Jonathan May, Anu Goenka, Kate E. Chandler, Jennifer E. Posey, Alexandra Afenjar, Luisa Averdunk, Maria Francesca Bedeschi, Thomas Besnard, Rae Brager, Lauren Brick, Melanie Brugger, Theresa Brunet, Susan Byrne, Oscar de la Calle-Martín, Valeria Capra, Paul Cardenas, Céline Chappé, Hey J. Chong, Benjamin Cogne, Erin Conboy, Heidi Cope, Thomas Courtin, Wallid Deb, Robertino Dilena, Christèle Dubourg, Magdeldin Elgizouli, Erica Fernandes, Kristi K. Fitzgerald, Silvana Gangi, Jaya K. George-Abraham, Muge Gucsavas-Calikoglu, Tobias B. Haack, Medard Hadonou, Britta Hanker, Irina Hüning, Maria Iascone, Bertrand Isidor, Irma Järvelä, Jay J. Jin, Alexander A.L. Jorge, Dragana Josifova, Ruta Kalinauskiene, Erik-Jan Kamsteeg, Boris Keren, Elena Kessler, Heike Kölbel, Mariya Kozenko, Christian Kubisch, Alma Kuechler, Suzanne M. Leal, Juha Leppälä, Sharon M. Luu, Gholson J. Lyon, Suneeta Madan-Khetarpal, Margherita Mancardi, Elaine Marchi, Lakshmi Mehta, Beatriz Menendez, Chantal F. Morel, Sue Moyer Harasink, Dayna-Lynn Nevay, Vincenzo Nigro, Sylvie Odent, Renske Oegema, John Pappas, Matthew T. Pastore, Yezmin Perilla-Young, Konrad Platzer, Nina Powell-Hamilton, Rachel Rabin, Aisha Rekab, Raissa C. Rezende, Leema Robert, Ferruccio Romano, Marcello Scala, Karin Poths, Isabelle Schrauwen, Jessica Sebastian, John Short, Richard Sidlow, Jennifer Sullivan, Katalin Szakszon, Queenie K.G. Tan, Undiagnosed Diseases Network, Matias Wagner, Dagmar Wieczorek, Bo Yuan, Nicole Maeding, Dirk Strunk, Amber Begtrup, Siddharth Banka, James R. Lupski, Eva Tolosa, Davor Lessel</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2025 Feb 6; </span>112(2): 394–413. <span class="">Published online 2025 Jan 10. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.12.012</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11866971</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=3&ncbi_uid=11866971&link_uid=11866971&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11866971/">Article</a><a ref="ordinalpos=3&ncbi_uid=11866971&link_uid=11866971&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11866971/pdf/main.pdf">PDF–3.9M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11739927" class="ui-helper-hidden-accessible">Select item 11739927</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="4" type="checkbox" id="UidCheckBox11739927" value="11739927" /><span>4.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=4&ncbi_uid=11739927&link_uid=11739927&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11739927/" class="view">EEFSEC deficiency: A selenopathy with early-onset neurodegeneration</a></div><div class="supp"><div class="desc">Lucia Laugwitz, Rebecca Buchert, Patricio Olguín, Mehrdad A. Estiar, Mihaela Atanasova, Wilson Marques Jr., Jörg Enssle, Brian Marsden, Javiera Avilés, Andrés González-Gutiérrez, Noemi Candia, Marietta Fabiano, Susanne Morlot, Susana Peralta, Alisa Groh, Carmen Schillinger, Carolin Kuehn, Linda Sofan, Marc Sturm, Benjamin Bender, Pedro J. Tomaselli, Uta Diebold, Amelie J. Mueller, Stephanie Spranger, Maren Fuchs, Fernando Freua, Uirá Souto Melo, Lauren Mattas, Setareh Ashtiani, Oksana Suchowersky, Samuel Groeschel, Guy A. Rouleau, Keren Yosovich, Marina Michelson, Zvi Leibovitz, Muhammad Bilal, Eyyup Uctepe, Ahmet Yesilyurt, Orhan Ozdogan, Tamer Celik, Ingeborg Krägeloh-Mann, Olaf Riess, Hendrik Rosewich, Muhammad Umair, Dorit Lev, Stephan Zuchner, Ulrich Schweizer, David S. Lynch, Ziv Gan-Or, Tobias B. Haack</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2025 Jan 2; </span>112(1): 168–180. <span class="">Published online 2025 Jan 2. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.12.001</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11739927</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=4&ncbi_uid=11739927&link_uid=11739927&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11739927/">Article</a><a ref="ordinalpos=4&ncbi_uid=11739927&link_uid=11739927&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11739927/pdf/main.pdf">PDF–3.1M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11739928" class="ui-helper-hidden-accessible">Select item 11739928</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="5" type="checkbox" id="UidCheckBox11739928" value="11739928" /><span>5.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=5&ncbi_uid=11739928&link_uid=11739928&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11739928/" class="view">TEMR: Trans-ethnic mendelian randomization method using large-scale GWAS summary datasets</a></div><div class="supp"><div class="desc">Lei Hou, Sijia Wu, Zhongshang Yuan, Fuzhong Xue, Hongkai Li</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2025 Jan 2; </span>112(1): 28–43. <span class="">Published online 2024 Dec 16. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.11.006</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11739928</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=5&ncbi_uid=11739928&link_uid=11739928&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11739928/">Article</a><a ref="ordinalpos=5&ncbi_uid=11739928&link_uid=11739928&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11739928/pdf/main.pdf">PDF–5.4M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11639090" class="ui-helper-hidden-accessible">Select item 11639090</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="6" type="checkbox" id="UidCheckBox11639090" value="11639090" /><span>6.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=6&ncbi_uid=11639090&link_uid=11639090&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11639090/" class="view">The methylomic landscape of human articular cartilage development contains epigenetic signatures of osteoarthritis risk</a></div><div class="supp"><div class="desc">Euan McDonnell, Sarah E. Orr, Matthew J. Barter, Danielle Rux, Abby Brumwell, Nicola Wrobel, Lee Murphy, Lynne M. Overman, Antony K. Sorial, David A. Young, Jamie Soul, Sarah J. Rice</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2024 Dec 5; </span>111(12): 2756–2772. <span class="">Published online 2024 Nov 22. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.10.017</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11639090</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=6&ncbi_uid=11639090&link_uid=11639090&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11639090/">Article</a><a ref="ordinalpos=6&ncbi_uid=11639090&link_uid=11639090&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11639090/pdf/main.pdf">PDF–3.8M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11639080" class="ui-helper-hidden-accessible">Select item 11639080</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="7" type="checkbox" id="UidCheckBox11639080" value="11639080" /><span>7.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=7&ncbi_uid=11639080&link_uid=11639080&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11639080/" class="view">Comparative analysis of predicted DNA secondary structures infers complex human centromere topology</a></div><div class="supp"><div class="desc">Sai Swaroop Chittoor, Simona Giunta</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2024 Dec 5; </span>111(12): 2707–2719. <span class="">Published online 2024 Nov 18. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.10.016</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11639080</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=7&ncbi_uid=11639080&link_uid=11639080&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11639080/">Article</a><a ref="ordinalpos=7&ncbi_uid=11639080&link_uid=11639080&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11639080/pdf/main.pdf">PDF–6.0M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11568758" class="ui-helper-hidden-accessible">Select item 11568758</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="8" type="checkbox" id="UidCheckBox11568758" value="11568758" /><span>8.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=8&ncbi_uid=11568758&link_uid=11568758&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11568758/" class="view">An abdominal obesity missense variant in the adipocyte thermogenesis gene <em>TBX15</em> is implicated in adaptation to cold in Finns</a></div><div class="supp"><div class="desc">Milena Deal, Asha Kar, Seung Hyuk T. Lee, Marcus Alvarez, Sandhya Rajkumar, Uma Thanigai Arasu, Dorota Kaminska, Ville Männistö, Sini Heinonen, Birgitta W. van der Kolk, Ulla Säiläkivi, Tuure Saarinen, Anne Juuti, Jussi Pihlajamäki, Minna U. Kaikkonen, Markku Laakso, Kirsi H. Pietiläinen, Päivi Pajukanta</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2024 Nov 7; </span>111(11): 2542–2560. <span class="">Published online 2024 Nov 7. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.10.001</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11568758</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=8&ncbi_uid=11568758&link_uid=11568758&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11568758/">Article</a><a ref="ordinalpos=8&ncbi_uid=11568758&link_uid=11568758&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11568758/pdf/main.pdf">PDF–3.5M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11568763" class="ui-helper-hidden-accessible">Select item 11568763</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="9" type="checkbox" id="UidCheckBox11568763" value="11568763" /><span>9.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=9&ncbi_uid=11568763&link_uid=11568763&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11568763/" class="view"><em>MARK2</em> variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway</a></div><div class="supp"><div class="desc">Maolei Gong, Jiayi Li, Zailong Qin, Matheus Vernet Machado Bressan Wilke, Yijun Liu, Qian Li, Haoran Liu, Chen Liang, Joel A. Morales-Rosado, Ana S.A. Cohen, Susan S. Hughes, Bonnie R. Sullivan, Valerie Waddell, Marie-José H. van den Boogaard, Richard H. van Jaarsveld, Ellen van Binsbergen, Koen L. van Gassen, Tianyun Wang, Susan M. Hiatt, Michelle D. Amaral, Whitley V. Kelley, Jianbo Zhao, Weixing Feng, Changhong Ren, Yazhen Yu, Nicole J. Boczek, Matthew J. Ferber, Carrie Lahner, Sherr Elliott, Yiyan Ruan, Cyril Mignot, Boris Keren, Hua Xie, Xiaoyan Wang, Bernt Popp, Christiane Zweier, Juliette Piard, Christine Coubes, Frederic Tran Mau-Them, Hana Safraou, A. Micheil Innes, Julie Gauthier, Jacques L. Michaud, Daniel C. Koboldt, Odent Sylvie, Marjolaine Willems, Wen-Hann Tan, Benjamin Cogne, Claudine Rieubland, Dominique Braun, Scott Douglas McLean, Konrad Platzer, Pia Zacher, Henry Oppermann, Lucie Evenepoel, Pierre Blanc, Laïla El Khattabi, Neshatul Haque, Nikita R. Dsouza, Michael T. Zimmermann, Raul Urrutia, Eric W. Klee, Yiping Shen, Hongzhen Du, Leonard Rappaport, Chang-Mei Liu, Xiaoli Chen</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2024 Nov 7; </span>111(11): 2392–2410. <span class="">Published online 2024 Oct 16. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.09.006</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11568763</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=9&ncbi_uid=11568763&link_uid=11568763&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11568763/">Article</a><a ref="ordinalpos=9&ncbi_uid=11568763&link_uid=11568763&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11568763/pdf/main.pdf">PDF–9.2M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11568759" class="ui-helper-hidden-accessible">Select item 11568759</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="10" type="checkbox" id="UidCheckBox11568759" value="11568759" /><span>10.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=10&ncbi_uid=11568759&link_uid=11568759&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11568759/" class="view">Where is the boundary of the human pseudoautosomal region?</a></div><div class="supp"><div class="desc">Daniel W. Bellott, Jennifer F. Hughes, Helen Skaletsky, Erik C. Owen, David C. Page</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2024 Nov 7; </span>111(11): 2530–2541. <span class="">Published online 2024 Oct 14. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.09.005</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11568759</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=10&ncbi_uid=11568759&link_uid=11568759&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11568759/">Article</a><a ref="ordinalpos=10&ncbi_uid=11568759&link_uid=11568759&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11568759/pdf/main.pdf">PDF–6.7M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11480795" class="ui-helper-hidden-accessible">Select item 11480795</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="11" type="checkbox" id="UidCheckBox11480795" value="11480795" /><span>11.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=11&ncbi_uid=11480795&link_uid=11480795&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11480795/" class="view">Joint testing of rare variant burden scores using non-negative least squares</a></div><div class="supp"><div class="desc">Andrey Ziyatdinov, Joelle Mbatchou, Anthony Marcketta, Joshua Backman, Sheila Gaynor, Yuxin Zou, Tyler Joseph, Benjamin Geraghty, Joseph Herman, Kyoko Watanabe, Arkopravo Ghosh, Jack Kosmicki, Adam Locke, Regeneron Genetics Center, Timothy Thornton, Hyun Min Kang, Manuel Ferreira, Aris Baras, Goncalo Abecasis, Jonathan Marchini</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2024 Oct 3; </span>111(10): 2139–2149. <span class="">Published online 2024 Oct 3. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.08.021</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11480795</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=11&ncbi_uid=11480795&link_uid=11480795&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11480795/">Article</a><a ref="ordinalpos=11&ncbi_uid=11480795&link_uid=11480795&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11480795/pdf/main.pdf">PDF–3.2M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11568765" class="ui-helper-hidden-accessible">Select item 11568765</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="12" type="checkbox" id="UidCheckBox11568765" value="11568765" /><span>12.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=12&ncbi_uid=11568765&link_uid=11568765&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11568765/" class="view">The pleiotropic spectrum of proximal 16p11.2 CNVs</a></div><div class="supp"><div class="desc">Chiara Auwerx, Zoltán Kutalik, Alexandre Reymond</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2024 Nov 7; </span>111(11): 2309–2346. <span class="">Published online 2024 Sep 26. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.08.015</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11568765</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=12&ncbi_uid=11568765&link_uid=11568765&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11568765/">Article</a><a ref="ordinalpos=12&ncbi_uid=11568765&link_uid=11568765&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11568765/pdf/main.pdf">PDF–3.2M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11568757" class="ui-helper-hidden-accessible">Select item 11568757</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="13" type="checkbox" id="UidCheckBox11568757" value="11568757" /><span>13.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=13&ncbi_uid=11568757&link_uid=11568757&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11568757/" class="view">Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs</a></div><div class="supp"><div class="desc">Chiara Auwerx, Samuel Moix, Zoltán Kutalik, Alexandre Reymond</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2024 Nov 7; </span>111(11): 2347–2361. <span class="">Published online 2024 Sep 26. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.08.014</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11568757</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=13&ncbi_uid=11568757&link_uid=11568757&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11568757/">Article</a><a ref="ordinalpos=13&ncbi_uid=11568757&link_uid=11568757&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11568757/pdf/main.pdf">PDF–6.1M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11480789" class="ui-helper-hidden-accessible">Select item 11480789</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="14" type="checkbox" id="UidCheckBox11480789" value="11480789" /><span>14.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=14&ncbi_uid=11480789&link_uid=11480789&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11480789/" class="view">Assessing the utility of large language models for phenotype-driven gene prioritization in the diagnosis of rare genetic disease</a></div><div class="supp"><div class="desc">Junyoung Kim, Kai Wang, Chunhua Weng, Cong Liu</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2024 Oct 3; </span>111(10): 2190–2202. <span class="">Published online 2024 Sep 9. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.08.010</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11480789</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=14&ncbi_uid=11480789&link_uid=11480789&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11480789/">Article</a><a ref="ordinalpos=14&ncbi_uid=11480789&link_uid=11480789&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11480789/pdf/main.pdf">PDF–1.8M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11393707" class="ui-helper-hidden-accessible">Select item 11393707</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="15" type="checkbox" id="UidCheckBox11393707" value="11393707" /><span>15.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=15&ncbi_uid=11393707&link_uid=11393707&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11393707/" class="view">Implementation of a dyadic nomenclature for monogenic diseases</a></div><div class="supp"><div class="desc">Courtney Thaxton, Leslie G. Biesecker, Marina DiStefano, Melissa Haendel, Ada Hamosh, Emma Owens, Sharon E. Plon, Heidi L. Rehm, Jonathan S. Berg</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2024 Sep 5; </span>111(9): 1810–1818. <span class="">Published online 2024 Sep 5. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.07.019</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11393707</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=15&ncbi_uid=11393707&link_uid=11393707&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11393707/">Article</a><a ref="ordinalpos=15&ncbi_uid=11393707&link_uid=11393707&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11393707/pdf/main.pdf">PDF–1.6M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11393664" class="ui-helper-hidden-accessible">Select item 11393664</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="16" type="checkbox" id="UidCheckBox11393664" value="11393664" /><span>16.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=16&ncbi_uid=11393664&link_uid=11393664&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11393664/" class="view">A new annual feature of <em>AJHG</em>: All of Us Research Program year in review</a></div><div class="supp"><div class="desc">Elyse Kozlowski, Geoffrey S. Ginsburg, Bruce R. Korf</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2024 Sep 5; </span>111(9): 1797. <span class="">Published online 2024 Sep 5. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.08.003</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11393664</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=16&ncbi_uid=11393664&link_uid=11393664&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11393664/">Article</a><a ref="ordinalpos=16&ncbi_uid=11393664&link_uid=11393664&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11393664/pdf/main.pdf">PDF–95K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11480806" class="ui-helper-hidden-accessible">Select item 11480806</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="17" type="checkbox" id="UidCheckBox11480806" value="11480806" /><span>17.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=17&ncbi_uid=11480806&link_uid=11480806&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11480806/" class="view">ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification</a></div><div class="supp"><div class="desc">Samantha M. Barnada, Aida Giner de Gracia, Cruz Morenilla-Palao, Maria Teresa López-Cascales, Chiara Scopa, Francis J. Waltrich, Jr., Harald M.M. Mikkers, Maria Elena Cicardi, Jonathan Karlin, Davide Trotti, Kevin A. Peterson, Samantha A. Brugmann, Gijs W.E. Santen, Steven B. McMahon, Eloísa Herrera, Marco Trizzino</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2024 Oct 3; </span>111(10): 2232–2252. <span class="">Published online 2024 Sep 2. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.07.022</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11480806</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=17&ncbi_uid=11480806&link_uid=11480806&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11480806/">Article</a><a ref="ordinalpos=17&ncbi_uid=11480806&link_uid=11480806&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11480806/pdf/main.pdf">PDF–6.7M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11393694" class="ui-helper-hidden-accessible">Select item 11393694</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="18" type="checkbox" id="UidCheckBox11393694" value="11393694" /><span>18.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=18&ncbi_uid=11393694&link_uid=11393694&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11393694/" class="view">Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes</a></div><div class="supp"><div class="desc">Malvika Tejura, Shawn Fayer, Abbye E. McEwen, Jake Flynn, Lea M. Starita, Douglas M. Fowler</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2024 Sep 5; </span>111(9): 2031–2043. <span class="">Published online 2024 Aug 21. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.07.018</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11393694</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=18&ncbi_uid=11393694&link_uid=11393694&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11393694/">Article</a><a ref="ordinalpos=18&ncbi_uid=11393694&link_uid=11393694&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11393694/pdf/main.pdf">PDF–3.8M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11393693" class="ui-helper-hidden-accessible">Select item 11393693</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="19" type="checkbox" id="UidCheckBox11393693" value="11393693" /><span>19.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=19&ncbi_uid=11393693&link_uid=11393693&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11393693/" class="view">Deleterious <em>ZNRF3</em> germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling</a></div><div class="supp"><div class="desc">Paranchai Boonsawat, Reza Asadollahi, Dunja Niedrist, Katharina Steindl, Anaïs Begemann, Pascal Joset, Elizabeth J. Bhoj, Dong Li, Elaine Zackai, Annalisa Vetro, Carmen Barba, Renzo Guerrini, Sandra Whalen, Boris Keren, Amjad Khan, Duan Jing, María Palomares Bralo, Emi Rikeros Orozco, Qin Hao, Britta Schlott Kristiansen, Bixia Zheng, Deirdre Donnelly, Virginia Clowes, Markus Zweier, Michael Papik, Gabriele Siegel, Valeria Sabatino, Martina Mocera, Anselm H.C. Horn, Heinrich Sticht, Anita Rauch</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2024 Sep 5; </span>111(9): 1994–2011. <span class="">Published online 2024 Aug 20. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.07.016</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11393693</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=19&ncbi_uid=11393693&link_uid=11393693&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11393693/">Article</a><a ref="ordinalpos=19&ncbi_uid=11393693&link_uid=11393693&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11393693/pdf/main.pdf">PDF–5.9M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11393706" class="ui-helper-hidden-accessible">Select item 11393706</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="20" type="checkbox" id="UidCheckBox11393706" value="11393706" /><span>20.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=20&ncbi_uid=11393706&link_uid=11393706&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11393706/" class="view">Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions</a></div><div class="supp"><div class="desc">Kendall A. Flaharty, Ping Hu, Suzanna Ledgister Hanchard, Molly E. Ripper, Dat Duong, Rebekah L. Waikel, Benjamin D. Solomon</div><div class="details"><b>Am J Hum Genet</b>. <span class="citation-publication-date">2024 Sep 5; </span>111(9): 1819–1833. <span class="">Published online 2024 Aug 14. </span><span class="doi"><span>doi: </span>10.1016/j.ajhg.2024.07.011</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11393706</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=20&ncbi_uid=11393706&link_uid=11393706&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11393706/">Article</a><a ref="ordinalpos=20&ncbi_uid=11393706&link_uid=11393706&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11393706/pdf/main.pdf">PDF–2.8M</a></div></div></div></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="filters app_msg"><p><strong>Filter your results:</strong></p><ul class="portlet_list"><li class="filter_selected"><a title="Total Results">All (15088) </a></li><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_FilterTab.Filter" filter="nih grants" sid="2" href="#" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_FilterTab.Filter">NIH grants (4703)</a></li><li><a class="empty_link" title="Embargoed Articles">Embargoed (0)</a></li></ul><ul class="inline_list app_msg_controls"><li><a href="/sites/myncbi/pmc/filters">Manage Filters</a></li></ul><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_FilterTab.CurrFilter" sid="1" type="hidden" value="all" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_FilterTab.LastFilter" sid="1" type="hidden" value="all" /></div>
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<option value="bioproject">BioProject</option>
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<option value="books">Books</option>
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<option value="clinvar">ClinVar</option>
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||
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||
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<div class="portlet_head">
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<div class="portlet_title">
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<h3>Search details</h3>
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</div>
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<div class="portlet_content">
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<textarea name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Discovery_SearchDetails.SearchDetailsTerm" sid="1" class="searchdetails_term" cols="30" rows="5" db="pmc">"Am J Hum Genet"[jour]</textarea>
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<a class="seemore" href="/pmc/details?querykey=84455" ref="log$=details">
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See more...
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<h3>Recent activity</h3>
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