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600 lines
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120 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="gene">Gene</option><option value="books">Books</option><option value="pubmed" class="last" data-ac_dict="pm_related_queries_2">PubMed</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 Med Genet A"[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=85662" 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="1ngH4-g5mleR5cjP95s8VBZ3GQDZVliLmwebt5wo9g" /><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%20Med%20Genet%20A%22%5Bjour%5D',qk:'85662',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">
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<div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox7617338" class="ui-helper-hidden-accessible">Select item 7617338</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="1" type="checkbox" id="UidCheckBox7617338" value="7617338" /><span>1.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=1&ncbi_uid=7617338&link_uid=7617338&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC7617338/" class="view">Baricitinib Treatment in RNU7-1-Associated Aicardi–Goutières Syndrome in a South African Child: A Case Report</a></div><div class="supp"><div class="desc">Timothy F. Spracklen, Shehnaaz Akhalwaya, Sally Ackermann, Carolina Uggenti, Luis Seabra, Yanick J. Crow, Kate Webb</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2025 Jan 25.</span><div>Published before final editing as: <b>Am J Med Genet A</b>. 2025 Jan 2 : e63978. <span class="doi"><span>doi: </span>10.1002/ajmg.a.63978</span> [Epub ahead of print]</div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC7617338</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=1&ncbi_uid=7617338&link_uid=7617338&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC7617338/">Article</a><a ref="ordinalpos=1&ncbi_uid=7617338&link_uid=7617338&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC7617338/pdf/EMS202145.pdf">PDF–1.0M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11846071" class="ui-helper-hidden-accessible">Select item 11846071</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="2" type="checkbox" id="UidCheckBox11846071" value="11846071" /><span>2.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=2&ncbi_uid=11846071&link_uid=11846071&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11846071/" class="view">The impact of a virtual mind–body program on symptoms of depression and anxiety among international English-speaking adults with neurofibromatosis</a></div><div class="supp"><div class="desc">Katherine McDermott, Jafar Bakhshaie, Julie Brewer, Ana-Maria Vranceanu</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2025 Feb 22.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2024 Jun; 194(6): e63543. <span class="">Published online 2024 Feb 6. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63543</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11846071</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=2&ncbi_uid=11846071&link_uid=11846071&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11846071/">Article</a><a ref="ordinalpos=2&ncbi_uid=11846071&link_uid=11846071&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11846071/pdf/nihms-2053893.pdf">PDF–423K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox7617136" class="ui-helper-hidden-accessible">Select item 7617136</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="3" type="checkbox" id="UidCheckBox7617136" value="7617136" /><span>3.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=3&ncbi_uid=7617136&link_uid=7617136&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC7617136/" class="view">Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies</a></div><div class="supp"><div class="desc">Arianne Bouman, Joyce M. Geelen, Joost Kummeling, Annette Schenck, Yvonne G. van der Zwan, Willemijn M. Klein, Tjitske Kleefstra</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Dec 9.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2024 May 1; 194(5): e63472. <span class="">Published online 2023 Dec 29. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63472</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC7617136</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=3&ncbi_uid=7617136&link_uid=7617136&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC7617136/">Article</a><a ref="ordinalpos=3&ncbi_uid=7617136&link_uid=7617136&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC7617136/pdf/EMS194816.pdf">PDF–690K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10922059" class="ui-helper-hidden-accessible">Select item 10922059</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="4" type="checkbox" id="UidCheckBox10922059" value="10922059" /><span>4.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=4&ncbi_uid=10922059&link_uid=10922059&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10922059/" class="view">The importance of patient-specific resources for families dealing with prenatal rare diseases</a></div><div class="supp"><div class="desc">Dhyanam P. Shukla, Jennifer Ortiz Cutshall, Lex van der Heijden, Erica Schindewolf, Sarah E. Sheppard</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2025 Mar 1.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2024 Mar; 194(3): e63450. <span class="">Published online 2023 Oct 20. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63450</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10922059</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=4&ncbi_uid=10922059&link_uid=10922059&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10922059/">Article</a><a ref="ordinalpos=4&ncbi_uid=10922059&link_uid=10922059&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10922059/pdf/nihms-1937145.pdf">PDF–347K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11019554" class="ui-helper-hidden-accessible">Select item 11019554</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="5" type="checkbox" id="UidCheckBox11019554" value="11019554" /><span>5.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=5&ncbi_uid=11019554&link_uid=11019554&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11019554/" class="view">Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, Design, and Methods for the InsighTS Registry</a></div><div class="supp"><div class="desc">Roopa Kanakatti Shankar, Alexandra Carl, Jennifer R Law, Vaneeta Bamba, Wendy J. Brickman, Siddharth K. Prakash, Tazim Dowlut-McElroy, Susan Howell, Iris Gutmark-Little, Karen O. Klein, Catherina T. Pinnaro, Kelly Ranallo, Marybel Good, Shanlee M. Davis</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2025 Feb 1.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2024 Feb; 194(2): 311–319. <span class="">Published online 2023 Oct 12. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63441</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11019554</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=5&ncbi_uid=11019554&link_uid=11019554&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11019554/">Article</a><a ref="ordinalpos=5&ncbi_uid=11019554&link_uid=11019554&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11019554/pdf/nihms-1981832.pdf">PDF–308K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10843452" class="ui-helper-hidden-accessible">Select item 10843452</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="6" type="checkbox" id="UidCheckBox10843452" value="10843452" /><span>6.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=6&ncbi_uid=10843452&link_uid=10843452&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10843452/" class="view">Epilepsy in cardiofaciocutaneous syndrome: clinical burden and response to anti-seizure medication</a></div><div class="supp"><div class="desc">Daniel L. Kenney-Jung, Josue E. Collazo-Lopez, Dante J. Rogers, Ryan Shanley, Abigail L. Zatkalik, Ashley E. Whitmarsh, Amy E. Roberts, Martin Zenker, Elizabeth I. Pierpont</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2025 Feb 1.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2024 Feb; 194(2): 301–310. <span class="">Published online 2023 Oct 12. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63428</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10843452</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=6&ncbi_uid=10843452&link_uid=10843452&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10843452/">Article</a><a ref="ordinalpos=6&ncbi_uid=10843452&link_uid=10843452&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10843452/pdf/nihms-1935345.pdf">PDF–403K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11221546" class="ui-helper-hidden-accessible">Select item 11221546</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="7" type="checkbox" id="UidCheckBox11221546" value="11221546" /><span>7.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=7&ncbi_uid=11221546&link_uid=11221546&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11221546/" class="view"><em>De novo</em> missense variants in <em>ZBTB47</em> are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities</a></div><div class="supp"><div class="desc">Scott K. Ward, Alexandrea Wadley, Chun-hui (Anne) Tsai, Paul J. Benke, Lisa Emrick, Kristen Fisher, Kimberly M. Houck, Hongzheng Dai, Undiagnosed Diseases Network, Maria J. Guillen Sacoto, William Craigen, Kimberly Glaser, David R. Murdock, Luis Rohena, K.E.M. Diderich, H.T. Bruggenwirth, Brendan Lee, Carlos Bacino, Lindsay C. Burrage, Jill A. Rosenfeld</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2025 Jan 1.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2024 Jan; 194(1): 17–30. <span class="">Published online 2023 Sep 25. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63399</span></div></div><div class="details"><dl><dt class="strong">Correction in: </dt><dd><a ref="ordinalpos=7&ncbi_uid=11221546&link_uid=11221546&linksrc=docsum_title" href="https://pubmed.ncbi.nlm.nih.gov/38327012"><span class="correction-info"><b>Am J Med Genet A</b>. 2024 Feb 7 : e63558. </span></a></dd></dl></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11221546</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=7&ncbi_uid=11221546&link_uid=11221546&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11221546/">Article</a><a ref="ordinalpos=7&ncbi_uid=11221546&link_uid=11221546&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11221546/pdf/nihms-1997265.pdf">PDF–725K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11141336" class="ui-helper-hidden-accessible">Select item 11141336</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="8" type="checkbox" id="UidCheckBox11141336" value="11141336" /><span>8.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=8&ncbi_uid=11141336&link_uid=11141336&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11141336/" class="view">Novel association of Dandy-Walker malformation with <em>CAPN15</em> variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome</a></div><div class="supp"><div class="desc">M. Makenzie Beaman, Lucia Guidugli, Monia Hammer, Chelsea Barrows, Anne Gregor, Sangmoon Lee, Kristen L. Deak, Marie T. McDonald, Courtney Jensen, Maha S. Zaki, Amira T. Masri, Charlotte A. Hobbs, Joseph G. Gleeson, Jennifer L. Cohen</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Nov 1.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2023 Nov; 191(11): 2757–2767. <span class="">Published online 2023 Aug 19. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63363</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11141336</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=8&ncbi_uid=11141336&link_uid=11141336&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11141336/">Article</a><a ref="ordinalpos=8&ncbi_uid=11141336&link_uid=11141336&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11141336/pdf/nihms-1965598.pdf">PDF–1.3M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10524239" class="ui-helper-hidden-accessible">Select item 10524239</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="9" type="checkbox" id="UidCheckBox10524239" value="10524239" /><span>9.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=9&ncbi_uid=10524239&link_uid=10524239&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10524239/" class="view">Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma</a></div><div class="supp"><div class="desc">Carsten G. Bönnemann, Kalpathy S. Krishnamoorthy, Jennifer J. Johnston, Mary M. Lee, Darren J. Fowler, Leslie G. Biesecker, Lewis B. Holmes</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Sep 1.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2023 Sep; 191(9): 2337–2343. <span class="">Published online 2023 Jul 12. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63306</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10524239</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=9&ncbi_uid=10524239&link_uid=10524239&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10524239/">Article</a><a ref="ordinalpos=9&ncbi_uid=10524239&link_uid=10524239&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10524239/pdf/nihms-1902230.pdf">PDF–309K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10524678" class="ui-helper-hidden-accessible">Select item 10524678</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="10" type="checkbox" id="UidCheckBox10524678" value="10524678" /><span>10.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=10&ncbi_uid=10524678&link_uid=10524678&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10524678/" class="view">Updated Consensus Guidelines on the Management of Phelan-McDermid Syndrome</a></div><div class="supp"><div class="desc">Siddharth Srivastava, Mustafa Sahin, Joseph D. Buxbaum, Elizabeth Berry-Kravis, Latha Valluripalli Soorya, Audrey Thurm, Jonathan A. Bernstein, Afua Asante-Otoo, William E. Bennett, Jr., Catalina Betancur, Tegwyn H. Brickhouse, Maria Rita Passos Bueno, Maya Chopra, Celanie K. Christensen, Jennifer L. Cully, Kira Dies, Kate Friedman, Brittany Gummere, J. Lloyd Holder, Jr., Andres Jimenez-Gomez, Carolyn A. Kerins, Omar Khan, Teresa Kohlenberg, Ronald V. Lacro, Lori A. Levy, Tess Levy, Diane Linnehan, Eva Loth, Baharak Moshiree, Ann Neumeyer, Scott M. Paul, Katy Phelan, Antonio Persico, Robert Rapaport, Curtis Rogers, Jeffrey Saland, Swathi Sethuram, Janine Shapiro, Phillip I. Tarr, Kerry M. White, Jordan Wickstrom, Kent M. Williams, Dana Winrow, Brian Wishart, Alexander Kolevzon</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Aug 1.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2023 Aug; 191(8): 2015–2044. <span class="">Published online 2023 Jul 1. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63312</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10524678</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=10&ncbi_uid=10524678&link_uid=10524678&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10524678/">Article</a><a ref="ordinalpos=10&ncbi_uid=10524678&link_uid=10524678&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10524678/pdf/nihms-1905412.pdf">PDF–710K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10524629" class="ui-helper-hidden-accessible">Select item 10524629</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="11" type="checkbox" id="UidCheckBox10524629" value="10524629" /><span>11.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=11&ncbi_uid=10524629&link_uid=10524629&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10524629/" class="view">Healthcare experiences of patients with Down syndrome from primarily Spanish-speaking households</a></div><div class="supp"><div class="desc">Jeanhee Chung, Kavita Krell, Albert Pless, Jr, Carie Michael, Amy Torres, Sandra Baker, Jasmine M. Blake, Kelli Caughman, Sarah Cullen, Maureen Gallagher, Roxanne Hoke-Chandler, Julius Maina, Diana McLuckie, Kate O’Neill, Angeles Peña, Dina Royal, Michelle Slape, Noemi Alice Spinazzi, Carlos G. Torres, Brian G. Skotko</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Aug 1.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2023 Aug; 191(8): 2132–2141. <span class="">Published online 2023 Jun 20. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63250</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10524629</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=11&ncbi_uid=10524629&link_uid=10524629&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10524629/">Article</a><a ref="ordinalpos=11&ncbi_uid=10524629&link_uid=10524629&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10524629/pdf/nihms-1900475.pdf">PDF–344K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10525007" class="ui-helper-hidden-accessible">Select item 10525007</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="12" type="checkbox" id="UidCheckBox10525007" value="10525007" /><span>12.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=12&ncbi_uid=10525007&link_uid=10525007&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10525007/" class="view">A Qualitative Exploration of Patient Perspectives on Psychosocial Burdens and Positive Factors in Adults with Osteogenesis Imperfecta</a></div><div class="supp"><div class="desc">W. Conor Rork, Alyssa G. Hertz, Andrew D. Wiese, Kristin M. Kostick, Dianne Nguyen, Sophie C. Schneider, Whitney S. Shepherd, Hannah Cho, Members of the BBDC, Chaya N. Murali, Brendan Lee, V. Reid Sutton, Eric A. Storch</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Sep 1.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2023 Sep; 191(9): 2267–2275. <span class="">Published online 2023 Jun 15. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63323</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10525007</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=12&ncbi_uid=10525007&link_uid=10525007&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10525007/">Article</a><a ref="ordinalpos=12&ncbi_uid=10525007&link_uid=10525007&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10525007/pdf/nihms-1905407.pdf">PDF–350K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10524726" class="ui-helper-hidden-accessible">Select item 10524726</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="13" type="checkbox" id="UidCheckBox10524726" value="10524726" /><span>13.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=13&ncbi_uid=10524726&link_uid=10524726&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10524726/" class="view">Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal <em>BBS12</em> variants</a></div><div class="supp"><div class="desc">Sheraz Khan, Ina Ofelia Focșa, Magdalena Budișteanu, Cristina Stoica, Florina Nedelea, Laurențiu Bohîlțea, Lavinia Caba, Lăcrămioara Butnariu, Monica Pânzaru, Cristina Rusu, Claudia Jurcă, Adela Emandi-Chiriță, Claudia Bănescu, Wasim Abbas, Azita Sadeghpour, Shahid Mahmood Baig, Mihaela Bălgrădean, Erica E. Davis</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Sep 1.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2023 Sep; 191(9): 2376–2391. <span class="">Published online 2023 Jun 9. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63322</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10524726</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=13&ncbi_uid=10524726&link_uid=10524726&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10524726/">Article</a><a ref="ordinalpos=13&ncbi_uid=10524726&link_uid=10524726&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10524726/pdf/nihms-1905408.pdf">PDF–1.5M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10524618" class="ui-helper-hidden-accessible">Select item 10524618</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="14" type="checkbox" id="UidCheckBox10524618" value="10524618" /><span>14.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=14&ncbi_uid=10524618&link_uid=10524618&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10524618/" class="view">Views on the impact of the COVID-19 pandemic on health in people with Down syndrome from diverse backgrounds</a></div><div class="supp"><div class="desc">Stephanie L. Santoro, Sandra Baker, Jasmine M. Blake, Maria J. Cabrera, Kelli Caughman, Jeanhee Chung, Sarah Cullen, Maureen Gallagher, Kelsey Haugen, Roxanne Hoke-Chandler, Kavita Krell, Julius Maina, Diana McLuckie, Vanessa L. Merker, Carie Michael, Kate O’Neill, Angeles Peña, Albert Pless, Jr., Dina Royal, Michelle Slape, Noemi Alice Spinazzi, Amy Torres, Carlos G. Torres, Brian G. Skotko</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Aug 1.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2023 Aug; 191(8): 2045–2056. <span class="">Published online 2023 Jun 2. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63233</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10524618</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=14&ncbi_uid=10524618&link_uid=10524618&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10524618/">Article</a><a ref="ordinalpos=14&ncbi_uid=10524618&link_uid=10524618&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10524618/pdf/nihms-1896715.pdf">PDF–342K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10526626" class="ui-helper-hidden-accessible">Select item 10526626</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="15" type="checkbox" id="UidCheckBox10526626" value="10526626" /><span>15.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=15&ncbi_uid=10526626&link_uid=10526626&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10526626/" class="view">Global health measures from a National Down Syndrome Registry</a></div><div class="supp"><div class="desc">Stephanie L. Santoro, Kelsey Haugen, Karen Donelan, Brian G. Skotko</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Aug 1.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2023 Aug; 191(8): 2092–2099. <span class="">Published online 2023 May 14. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63243</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10526626</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=15&ncbi_uid=10526626&link_uid=10526626&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10526626/">Article</a><a ref="ordinalpos=15&ncbi_uid=10526626&link_uid=10526626&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10526626/pdf/nihms-1907742.pdf">PDF–206K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10330190" class="ui-helper-hidden-accessible">Select item 10330190</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="16" type="checkbox" id="UidCheckBox10330190" value="10330190" /><span>16.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=16&ncbi_uid=10330190&link_uid=10330190&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10330190/" class="view">Expanded Phenotypic and Hematologic Abnormalities Beyond Bone Marrow Failure in <em>MECOM</em>-Associated Syndromes</a></div><div class="supp"><div class="desc">Michell M. Lozano Chinga, Alison A. Bertuch, Zeinab Afify, Kaylee Dollerschell, Joanne I. Hsu, Tami D. John, Emily S. Rao, R. Grant Rowe, Vijay G. Sankaran, Akiko Shimamura, David A. Williams, Taizo A. Nakano</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Jul 1.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2023 Jul; 191(7): 1826–1835. <span class="">Published online 2023 Apr 17. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63208</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10330190</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=16&ncbi_uid=10330190&link_uid=10330190&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10330190/">Article</a><a ref="ordinalpos=16&ncbi_uid=10330190&link_uid=10330190&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10330190/pdf/nihms-1896701.pdf">PDF–793K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10942657" class="ui-helper-hidden-accessible">Select item 10942657</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="17" type="checkbox" id="UidCheckBox10942657" value="10942657" /><span>17.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=17&ncbi_uid=10942657&link_uid=10942657&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10942657/" class="view">Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in <em>EXOSC1</em> gene: A Case Report</a></div><div class="supp"><div class="desc">Nadirah S. Damseh, Ali N. Obeidat, Khondakar Sayef Ahammed, Motee Al-Ashhab, Motee Abu Awad, Ambro van Hoof</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Jul 1.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2023 Jul; 191(7): 1923–1928. <span class="">Published online 2023 Apr 6. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63198</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10942657</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=17&ncbi_uid=10942657&link_uid=10942657&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10942657/">Article</a><a ref="ordinalpos=17&ncbi_uid=10942657&link_uid=10942657&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10942657/pdf/nihms-1973756.pdf">PDF–663K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11068498" class="ui-helper-hidden-accessible">Select item 11068498</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="18" type="checkbox" id="UidCheckBox11068498" value="11068498" /><span>18.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=18&ncbi_uid=11068498&link_uid=11068498&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11068498/" class="view">Quantitative measures of motor development in Angelman syndrome</a></div><div class="supp"><div class="desc">Jessica Duis, Austin Skinner, Robert Carson, Arnaud Gouelle, Melanie Annoussamy, Jill L. Silverman, Susan Apkon, Laurent Servais, James Carollo</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 May 4.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2023 Jul; 191(7): 1711–1721. <span class="">Published online 2023 Apr 5. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63192</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11068498</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=18&ncbi_uid=11068498&link_uid=11068498&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11068498/">Article</a><a ref="ordinalpos=18&ncbi_uid=11068498&link_uid=11068498&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11068498/pdf/nihms-1987190.pdf">PDF–864K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10286100" class="ui-helper-hidden-accessible">Select item 10286100</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="19" type="checkbox" id="UidCheckBox10286100" value="10286100" /><span>19.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=19&ncbi_uid=10286100&link_uid=10286100&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10286100/" class="view"><em>H4C5</em> missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome</a></div><div class="supp"><div class="desc">Nicholas Borja, Paulo Borjas-Mendoza, Stephanie Bivona, LéShon Peart, Joanna Gonzalez, Brittney Keira Johnson, Shengru Guo, Roman Yusupov, Undiagnosed Diseases Network, Guney Bademci, Mustafa Tekin</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Jul 1.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2023 Jul; 191(7): 1911–1916. <span class="">Published online 2023 Mar 29. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63193</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10286100</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=19&ncbi_uid=10286100&link_uid=10286100&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10286100/">Article</a><a ref="ordinalpos=19&ncbi_uid=10286100&link_uid=10286100&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10286100/pdf/nihms-1884569.pdf">PDF–232K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox10947986" class="ui-helper-hidden-accessible">Select item 10947986</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="20" type="checkbox" id="UidCheckBox10947986" value="10947986" /><span>20.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=20&ncbi_uid=10947986&link_uid=10947986&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10947986/" class="view">Exome-wide assessment of isolated biliary atresia: A report from the
|
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National Birth Defects Prevention Study using child–parent trios and a
|
||
case–control design to identify novel rare variants</a></div><div class="supp"><div class="desc">Pagna Sok, Aniko Sabo, Lynn M. Almli, Mary M. Jenkins, Wendy N. Nembhard, A. J. Agopian, Michael J. Bamshad, Elizabeth E. Blue, Lawrence C. Brody, Austin L. Brown, Marilyn L. Browne, Mark A. Canfield, Suzan L. Carmichael, Jessica X. Chong, Shannon Dugan-Perez, Marcia L. Feldkamp, Richard H. Finnell, Richard A. Gibbs, Denise M. Kay, Yunping Lei, Qingchang Meng, Cynthia A. Moore, James C. Mullikin, Donna Muzny, Andrew F. Olshan, Faith Pangilinan, Jennita Reefhuis, Paul A. Romitti, Jeremy M. Schraw, Gary M. Shaw, Martha M. Werler, Sanjiv Harpavat, Philip J. Lupo, University of Washington Center for Mendelian Genomics, NISC Comparative
|
||
Sequencing Program, the National Birth Defects Prevention Study</div><div class="details"><b>Am J Med Genet A</b>. <span class="ms-submitted-date">Author manuscript; available in PMC 2024 Jun 1.</span><div>Published in final edited form as: <b>Am J Med Genet A</b>. 2023 Jun; 191(6): 1546–1556. <span class="">Published online 2023 Mar 21. </span><span class="doi"><span>doi: </span>10.1002/ajmg.a.63185</span></div></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC10947986</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=20&ncbi_uid=10947986&link_uid=10947986&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10947986/">Article</a><a ref="ordinalpos=20&ncbi_uid=10947986&link_uid=10947986&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC10947986/pdf/nihms-1964254.pdf">PDF–514K</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 (1414) </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 (1141)</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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<h3>Search details</h3>
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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 Med Genet A"[jour]</textarea>
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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<div class="col-lg-3 col-12 centered-lg">
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<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
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