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<meta name="citation_authors" content="Konrad EDH;Nardini N;Caliebe A;Nagel I;Young D;Horvath G;Santoro SL;Shuss C;Ziegler A;Bonneau D;Kempers M;Pfundt R;Legius E;Bouman A;Stuurman KE;Õunap K;Pajusalu S;Wojcik MH;Vasileiou G;Le Guyader G;Schnelle HM;Berland S;Zonneveld-Huijssoon E;Kersten S;Gupta A;Blackburn PR;Ellingson MS;Ferber MJ;Dhamija R;Klee EW;McEntagart M;Lichtenbelt KD;Kenney A;Vergano SA;Abou Jamra R;Platzer K;Ella Pierpont M;Khattar D;Hopkin RJ;Martin RJ;Jongmans MCJ;Chang VY;Martinez-Agosto JA;Kuismin O;Kurki MI;Pietiläinen O;Palotie A;Maarup TJ;Johnson DS;Venborg Pedersen K;Laulund LW;Lynch SA;Blyth M;Prescott K;Canham N;Ibitoye R;Brilstra EH;Shinawi M;Fassi E; ;Sticht H;Gregor A;Van Esch H;Zweier C;">
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|
||
<!-- Better for them to look like buttons but no space -->
|
||
<div class="search-links-wrapper content-page-layout">
|
||
<div class="search-links">
|
||
<a href="/advanced/"
|
||
class="search-input-link adv-search-link"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="adv_search">Advanced</a>
|
||
|
||
|
||
<a href="/clipboard/"
|
||
class="search-input-link clipboard-link hidden"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="clipboard">
|
||
Clipboard <span class="amount-in-clipboard"></span>
|
||
</a>
|
||
</div>
|
||
|
||
<span class="search-input-link user-guide-link" role="navigation" aria-label="User guide">
|
||
<a href="/help/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="user_guide">
|
||
User Guide
|
||
</a>
|
||
</span>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</form>
|
||
|
||
|
||
<div id="article-page-header">
|
||
<div id="article-top-actions-bar" class="article-top-actions-bar">
|
||
<div class="inner-wrap">
|
||
<div class="actions-container">
|
||
<div class="return-to-search">
|
||
|
||
|
||
</div>
|
||
|
||
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
|
||
<button id="save-results-panel-trigger"
|
||
type="button"
|
||
class="save-results save-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="save-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="open">
|
||
Save
|
||
</button><button id="email-results-panel-trigger"
|
||
type="button"
|
||
class="email-results email-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="email-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="open">
|
||
Email
|
||
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
|
||
type="button"
|
||
class="trigger more-actions-trigger"
|
||
ref="linksrc=show_moreactions_btn"
|
||
aria-label="Send to"
|
||
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
|
||
href="#"
|
||
role="button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="clipboard"
|
||
data-ga-label="send">
|
||
Clipboard
|
||
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F31239556%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F31239556%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region">
|
||
<button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog">
|
||
<span class="button-label">Display options</span>
|
||
</button>
|
||
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Display options
|
||
</div>
|
||
|
||
<div class="content">
|
||
|
||
<div class="format-container">
|
||
<span class="option-label">
|
||
Format
|
||
</span>
|
||
<select name="format" data-initial-value="abstract" aria-label="Display format" id="article-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="rbxAR4WASHzUtpV3IQIR7dYW5jrU3MrFIYhFuUpWsimonQ1Tl9lTBluADn96WnZZ">
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="article-panels-container" class="article-panels-container">
|
||
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Save citation to file
|
||
</h2>
|
||
<form id="save-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="rbxAR4WASHzUtpV3IQIR7dYW5jrU3MrFIYhFuUpWsimonQ1Tl9lTBluADn96WnZZ">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="save-action-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="save-action-format" name="results-format" class="action-panel-selector">
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="pubmed-text">PubMed</option>
|
||
<option value="pmid">PMID</option>
|
||
<option value="abstract">Abstract (text)</option>
|
||
<option value="csv">CSV</option>
|
||
</select>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Save citations to file' panel"
|
||
ref="linksrc=close_save_panel"
|
||
aria-controls="save-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="email-action-panel"
|
||
class="email-action-panel action-panel"
|
||
aria-hidden="true"
|
||
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
|
||
data-recaptcha-enabled="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Email citation
|
||
</h2>
|
||
<form id="email-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/send-email/"
|
||
data-by-search-action="/results-export-email-by-search-data/"
|
||
data-by-ids-action="/send-email/"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post"
|
||
method="post"
|
||
>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="rbxAR4WASHzUtpV3IQIR7dYW5jrU3MrFIYhFuUpWsimonQ1Tl9lTBluADn96WnZZ">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<span class="action-panel-label">
|
||
Subject:
|
||
</span>
|
||
<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 31239556 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 31239556"/>
|
||
<input type="hidden" name="email-subject-hash" value="76e64bba1685b3a7ee0ace5f139b7920e2645cf6fa35c2086dc542adeb36cf24"/>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-to" class="action-panel-label required-field-asterisk">
|
||
To:
|
||
</label>
|
||
<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-from" class="action-panel-label">
|
||
From:
|
||
</label>
|
||
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
|
||
</div>
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-citation-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
|
||
<option selected="selected" value="summary">Summary</option>
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="abstract">Abstract</option>
|
||
<option value="abstract-text">Abstract (text)</option>
|
||
|
||
</select>
|
||
</div>
|
||
<div class="include-supplemental-container">
|
||
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
|
||
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="form-field recaptcha ">
|
||
|
||
|
||
|
||
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
|
||
|
||
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="send">
|
||
Send email
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Email citations' panel"
|
||
ref="linksrc=close_email_panel"
|
||
aria-controls="email-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
<input type="hidden" name="email-search-details" value="" />
|
||
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="collections-action-panel"
|
||
class="collections-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-collections-open-panel-enabled="false"
|
||
data-collections-open-panel-url-hash="#open-collections-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to Collections
|
||
</h3>
|
||
|
||
|
||
<form id="collections-action-panel-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-add-to-collection-max-amount="1000"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="rbxAR4WASHzUtpV3IQIR7dYW5jrU3MrFIYhFuUpWsimonQ1Tl9lTBluADn96WnZZ">
|
||
|
||
|
||
|
||
<div class="choice-group" role="radiogroup">
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_new">
|
||
<label for="collections-action-panel-new">Create a new collection</label>
|
||
</li>
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_existing">
|
||
<label for="collections-action-panel-existing">Add to an existing collection</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="controls-wrapper">
|
||
<div class="action-panel-control-wrap new-collections-controls">
|
||
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label>
|
||
<input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-panel-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="save_share"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection">
|
||
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div>
|
||
</div>
|
||
<div class="action-panel-control-wrap existing-collections-controls">
|
||
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label>
|
||
<select id="collections-action-panel-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="save_share"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
|
||
</select>
|
||
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="add">
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="bibliography-action-panel"
|
||
class="bibliography-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-bibliography-open-panel-enabled="false"
|
||
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to My Bibliography
|
||
</h3>
|
||
<form id="bibliography-action-panel-form"
|
||
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-add-to-bibliography-max-amount="100"
|
||
data-add-to-bibliography-batch-size="10"
|
||
data-bibliography-delegates-url="/list-bibliography-delegates/"
|
||
data-add-to-bibliography-url="/add-to-bibliography/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="rbxAR4WASHzUtpV3IQIR7dYW5jrU3MrFIYhFuUpWsimonQ1Tl9lTBluADn96WnZZ">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap bibliographies-controls">
|
||
<div class="choice-group">
|
||
<ul class="bibliographies-action-add radio-group-items">
|
||
<li>
|
||
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
|
||
<label for="my-bibliography">My Bibliography</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your delegates due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore>
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to bibliography' panel"
|
||
ref="linksrc=close_bibliography_panel"
|
||
aria-controls="bibliography-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="mybib"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
|
||
data-saved-search-open-panel-enabled="false"
|
||
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your saved search
|
||
</h2>
|
||
|
||
<form id="saved-search-action-panel-form"
|
||
class="saved-search-action-panel-form action-panel-content action-form"
|
||
data-create-saved-search-url="/create-saved-search/"
|
||
data-try-search-terms-url="/try-search-term/"
|
||
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="rbxAR4WASHzUtpV3IQIR7dYW5jrU3MrFIYhFuUpWsimonQ1Tl9lTBluADn96WnZZ">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
|
||
Name of saved search:
|
||
</label>
|
||
<input maxlength="200"
|
||
type="text"
|
||
name="saved-search-name"
|
||
id="saved-search-name"
|
||
class="saved-search-name"
|
||
value=""
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
|
||
Search terms:
|
||
</label>
|
||
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
|
||
</div>
|
||
<div class="test-search-term-wrap">
|
||
<a href="#" class="try-search-term">Test search terms</a>
|
||
</div>
|
||
<div class="choice-group action-panel-extra-margin-top">
|
||
<span class="action-panel-label" id="fieldset-label">
|
||
Would you like email updates of new search results?
|
||
</span>
|
||
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
|
||
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
|
||
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
|
||
</li>
|
||
<li>
|
||
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
|
||
<label for="saved-search-alert-no" class="action-panel-label">No</label>
|
||
</li>
|
||
</ul>
|
||
</fieldset>
|
||
</div>
|
||
|
||
<div class="alert-schedule-wrap">
|
||
<div class="action-panel-control-wrap">
|
||
<label class="action-panel-label">
|
||
Email:
|
||
</label>
|
||
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
|
||
</div>
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="saved-search-frequency" class="action-panel-label">
|
||
Frequency:
|
||
</label>
|
||
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
|
||
<option value="monthly">Monthly</option>
|
||
<option value="weekly">Weekly</option>
|
||
<option value="daily">Daily</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-monthly-additional">
|
||
<label for="saved-search-monthly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
|
||
<option value="Sunday">The first Sunday</option>
|
||
<option value="Monday">The first Monday</option>
|
||
<option value="Tuesday">The first Tuesday</option>
|
||
<option value="Wednesday">The first Wednesday</option>
|
||
<option value="Thursday">The first Thursday</option>
|
||
<option value="Friday">The first Friday</option>
|
||
<option value="Saturday">The first Saturday</option>
|
||
<option value="day">The first day</option>
|
||
<option value="weekday">The first weekday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-weekly-additional">
|
||
<label for="saved-search-weekly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
|
||
<option value="Sunday">Sunday</option>
|
||
<option value="Monday">Monday</option>
|
||
<option value="Tuesday">Tuesday</option>
|
||
<option value="Wednesday">Wednesday</option>
|
||
<option value="Thursday">Thursday</option>
|
||
<option value="Friday">Friday</option>
|
||
<option value="Saturday">Saturday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-report" class="action-panel-label">
|
||
Report format:
|
||
</label>
|
||
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
|
||
<option value="DocSum">Summary</option>
|
||
<option value="DocSumText">Summary (text)</option>
|
||
<option value="Abstract">Abstract</option>
|
||
<option value="AbstractText">Abstract (text)</option>
|
||
<option value="MEDLINE">PubMed</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-amount" class="action-panel-label">
|
||
Send at most:
|
||
</label>
|
||
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
|
||
<option value="1">1 item</option>
|
||
<option value="5" selected>5 items</option>
|
||
<option value="10">10 items</option>
|
||
<option value="20">20 items</option>
|
||
<option value="50">50 items</option>
|
||
<option value="100">100 items</option>
|
||
<option value="200">200 items</option>
|
||
</select>
|
||
</div>
|
||
<div>
|
||
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
|
||
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
|
||
Send even when there aren't any new results
|
||
</label>
|
||
</div>
|
||
<div class="action-panel-control-wrap option-text-in-email-wrap">
|
||
<label for="saved-search-email-text" class="action-panel-label">
|
||
Optional text in email:
|
||
</label>
|
||
<textarea name="saved-search-email-text"
|
||
id="saved-search-email-text"
|
||
class="saved-search-email-text"></textarea>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Save
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your saved search' panel"
|
||
ref="linksrc=close_saved_search_panel"
|
||
aria-controls="saved-search-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Create a file for external citation management software
|
||
</h2>
|
||
<form id="citation-manager-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="rbxAR4WASHzUtpV3IQIR7dYW5jrU3MrFIYhFuUpWsimonQ1Tl9lTBluADn96WnZZ">
|
||
|
||
|
||
|
||
<input name="results-format" type="hidden" value="pubmed"/>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Send citations to citation manager' panel"
|
||
ref="linksrc=close_citation_manager_panel"
|
||
aria-controls="citation-manager-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your RSS Feed
|
||
</h2>
|
||
|
||
<form id="rss-action-panel-form"
|
||
class="rss-action-panel-form action-panel-content action-form"
|
||
data-create-rss-feed-url="/create-rss-feed-url/"
|
||
data-search-form-term-value="">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="rbxAR4WASHzUtpV3IQIR7dYW5jrU3MrFIYhFuUpWsimonQ1Tl9lTBluADn96WnZZ">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="rss-name" class="action-panel-label required-field-asterisk">
|
||
Name of RSS Feed:
|
||
</label>
|
||
<input maxlength="200"
|
||
placeholder="Name"
|
||
type="text"
|
||
name="rss-name"
|
||
id="rss-name"
|
||
class="rss-name"
|
||
value=''
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="rss-limit-wrap">
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="rss-limit" class="action-panel-label">
|
||
Number of items displayed:
|
||
</label>
|
||
<select id="rss-limit" class="no-border-panel-selector rss-limit">
|
||
<option value="5">5</option>
|
||
<option value="10">10</option>
|
||
<option value="15" selected="selected">15</option>
|
||
<option value="20">20</option>
|
||
<option value="50">50</option>
|
||
<option value="100">100</option>
|
||
</select>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Creating..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Create RSS
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your RSS' panel"
|
||
ref="linksrc=close_rss_panel"
|
||
aria-controls="rss-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap rss-link-copy-wrap">
|
||
<label for="rss-link" class="usa-sr-only">RSS Link</label>
|
||
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
|
||
<button
|
||
type="button"
|
||
disabled
|
||
class="rss-link-copy-button disabled"
|
||
data-ga-category="save_share"
|
||
data-ga-action="rss"
|
||
data-ga-label="copy">
|
||
Copy
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="article-page" id="article-page" data-article-pmid="31239556">
|
||
<aside class="page-sidebar">
|
||
<div class="inner-wrap">
|
||
|
||
<div class="full-text-links">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Full text links
|
||
</h3>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
|
||
dialog-focus"
|
||
href="https://linkinghub.elsevier.com/retrieve/pii/S1098-3600(21)01221-1"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3048&itool=Abstract-def&log$=linkouticon&uid=31239556&db=pubmed&nlmid=9815831"
|
||
title="See full text options at Elsevier Science"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Elsevier Science"
|
||
data-ga-label="31239556"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--linkinghub.elsevier.com-ihub-images-elsevieroa.png" alt="Elsevier Science full text link"><span class="text">
|
||
|
||
Elsevier Science
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/31239556/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=31239556&db=pubmed&nlmid=9815831"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="31239556"
|
||
><span class="text">
|
||
|
||
Free PMC article
|
||
|
||
</span></a>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="short-view">
|
||
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
|
||
Full text links
|
||
</a>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
|
||
aria-label="Open dialog with citation text in different styles"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="open"
|
||
data-all-citations-url="/31239556/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/31239556/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="31239556" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
|
||
aria-label="Save article in MyNCBI collections."
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_button"
|
||
data-collections-open-dialog-enabled="false"
|
||
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F31239556%2F%23open-collections-dialog"
|
||
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
|
||
class="dialog collections-dialog"
|
||
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="rbxAR4WASHzUtpV3IQIR7dYW5jrU3MrFIYhFuUpWsimonQ1Tl9lTBluADn96WnZZ"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label><input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-dialog-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label><select id="collections-action-dialog-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="add">
|
||
Add
|
||
</button><button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="cancel">
|
||
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</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2019 Dec;21(12):2723-2733.</span>
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<h1 class="heading-title">
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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
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data-ga-label="Alban Ziegler">Alban Ziegler</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Département de Biochimie et Génétique, CHU Angers et Mitolab INSERM 1083-CNRS 6015, Angers, France." href="#full-view-affiliation-6" ref="linksrc=author_aff">
|
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6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Bonneau+D&cauthor_id=31239556"
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data-ga-label="Dominique Bonneau">Dominique Bonneau</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Département de Biochimie et Génétique, CHU Angers et Mitolab INSERM 1083-CNRS 6015, Angers, France." href="#full-view-affiliation-6" ref="linksrc=author_aff">
|
||
6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Kempers+M&cauthor_id=31239556"
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data-ga-label="Marlies Kempers">Marlies Kempers</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands." href="#full-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Pfundt+R&cauthor_id=31239556"
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data-ga-label="Rolph Pfundt">Rolph Pfundt</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands." href="#full-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Legius+E&cauthor_id=31239556"
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data-ga-label="Eric Legius">Eric Legius</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, KU Leuven and Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium." href="#full-view-affiliation-8" ref="linksrc=author_aff">
|
||
8
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Bouman+A&cauthor_id=31239556"
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data-ga-label="Arjan Bouman">Arjan Bouman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands." href="#full-view-affiliation-9" ref="linksrc=author_aff">
|
||
9
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Stuurman+KE&cauthor_id=31239556"
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data-ga-label="Kyra E Stuurman">Kyra E Stuurman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands." href="#full-view-affiliation-9" ref="linksrc=author_aff">
|
||
9
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=%C3%95unap+K&cauthor_id=31239556"
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data-ga-label="Katrin Õunap">Katrin Õunap</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia." href="#full-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia." href="#full-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Broad Institute of MIT and Harvard, Cambridge, MA, USA." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Pajusalu+S&cauthor_id=31239556"
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data-ga-label="Sander Pajusalu">Sander Pajusalu</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia." href="#full-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia." href="#full-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, Yale University School of Medicine, New Haven, CT, USA." href="#full-view-affiliation-13" ref="linksrc=author_aff">
|
||
13
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Wojcik+MH&cauthor_id=31239556"
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data-ga-label="Monica H Wojcik">Monica H Wojcik</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Broad Institute of MIT and Harvard, Cambridge, MA, USA." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Divisions of Genetics and Genomics and Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA." href="#full-view-affiliation-14" ref="linksrc=author_aff">
|
||
14
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Vasileiou+G&cauthor_id=31239556"
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data-ga-label="Georgia Vasileiou">Georgia Vasileiou</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany." href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Le+Guyader+G&cauthor_id=31239556"
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data-ga-label="Gwenaël Le Guyader">Gwenaël Le Guyader</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Clinique, CHU de Poitiers, Poitiers, France." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Schnelle+HM&cauthor_id=31239556"
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data-ga-label="Hege M Schnelle">Hege M Schnelle</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Berland+S&cauthor_id=31239556"
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data-ga-label="Siren Berland">Siren Berland</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Zonneveld-Huijssoon+E&cauthor_id=31239556"
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data-ga-label="Evelien Zonneveld-Huijssoon">Evelien Zonneveld-Huijssoon</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands." href="#full-view-affiliation-17" ref="linksrc=author_aff">
|
||
17
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Kersten+S&cauthor_id=31239556"
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data-ga-label="Simone Kersten">Simone Kersten</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands." href="#full-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Gupta+A&cauthor_id=31239556"
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data-ga-label="Aditi Gupta">Aditi Gupta</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA." href="#full-view-affiliation-18" ref="linksrc=author_aff">
|
||
18
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Blackburn+PR&cauthor_id=31239556"
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data-ga-label="Patrick R Blackburn">Patrick R Blackburn</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA." href="#full-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ellingson+MS&cauthor_id=31239556"
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data-ga-label="Marissa S Ellingson">Marissa S Ellingson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA." href="#full-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ferber+MJ&cauthor_id=31239556"
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data-ga-label="Matthew J Ferber">Matthew J Ferber</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA." href="#full-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Dhamija+R&cauthor_id=31239556"
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data-ga-label="Radhika Dhamija">Radhika Dhamija</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA." href="#full-view-affiliation-20" ref="linksrc=author_aff">
|
||
20
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Klee+EW&cauthor_id=31239556"
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data-ga-label="Eric W Klee">Eric W Klee</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA." href="#full-view-affiliation-18" ref="linksrc=author_aff">
|
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18
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=McEntagart+M&cauthor_id=31239556"
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data-ga-label="Meriel McEntagart">Meriel McEntagart</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="South West Thames Regional Genetics Centre, St. George's Healthcare NHS Trust, St. George's, University of London, London, UK." href="#full-view-affiliation-21" ref="linksrc=author_aff">
|
||
21
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Lichtenbelt+KD&cauthor_id=31239556"
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data-ga-label="Klaske D Lichtenbelt">Klaske D Lichtenbelt</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#full-view-affiliation-22" ref="linksrc=author_aff">
|
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22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Kenney+A&cauthor_id=31239556"
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data-ga-label="Amy Kenney">Amy Kenney</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA." href="#full-view-affiliation-23" ref="linksrc=author_aff">
|
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23
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Vergano+SA&cauthor_id=31239556"
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data-ga-label="Samantha A Vergano">Samantha A Vergano</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA." href="#full-view-affiliation-23" ref="linksrc=author_aff">
|
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23
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Abou+Jamra+R&cauthor_id=31239556"
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data-ga-label="Rami Abou Jamra">Rami Abou Jamra</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany." href="#full-view-affiliation-24" ref="linksrc=author_aff">
|
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24
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Platzer+K&cauthor_id=31239556"
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data-ga-label="Konrad Platzer">Konrad Platzer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany." href="#full-view-affiliation-24" ref="linksrc=author_aff">
|
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24
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ella+Pierpont+M&cauthor_id=31239556"
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data-ga-label="Mary Ella Pierpont">Mary Ella Pierpont</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA." href="#full-view-affiliation-25" ref="linksrc=author_aff">
|
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25
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Khattar+D&cauthor_id=31239556"
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data-ga-label="Divya Khattar">Divya Khattar</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA." href="#full-view-affiliation-26" ref="linksrc=author_aff">
|
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26
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Hopkin+RJ&cauthor_id=31239556"
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data-ga-label="Robert J Hopkin">Robert J Hopkin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA." href="#full-view-affiliation-26" ref="linksrc=author_aff">
|
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26
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Martin+RJ&cauthor_id=31239556"
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data-ga-label="Richard J Martin">Richard J Martin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK." href="#full-view-affiliation-27" ref="linksrc=author_aff">
|
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27
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||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Jongmans+MCJ&cauthor_id=31239556"
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data-ga-label="Marjolijn C J Jongmans">Marjolijn C J Jongmans</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands." href="#full-view-affiliation-7" ref="linksrc=author_aff">
|
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7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Chang+VY&cauthor_id=31239556"
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28
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Jonsson Comprehensive Cancer Center, University of California, Los Angeles, CA, USA." href="#full-view-affiliation-29" ref="linksrc=author_aff">
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29
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30
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA." href="#full-view-affiliation-31" ref="linksrc=author_aff">
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31
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32
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="PEDEGO Research Unit, University of Oulu, Oulu, Finland." href="#full-view-affiliation-33" ref="linksrc=author_aff">
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33
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland." href="#full-view-affiliation-34" ref="linksrc=author_aff">
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34
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland." href="#full-view-affiliation-35" ref="linksrc=author_aff">
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35
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32
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA." href="#full-view-affiliation-36" ref="linksrc=author_aff">
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36
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA." href="#full-view-affiliation-37" ref="linksrc=author_aff">
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37
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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37
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Stem Cell and Regenerative Biology, University of Harvard, Cambridge, MA, USA." href="#full-view-affiliation-38" ref="linksrc=author_aff">
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38
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32
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA." href="#full-view-affiliation-36" ref="linksrc=author_aff">
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36
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA." href="#full-view-affiliation-37" ref="linksrc=author_aff">
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37
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA." href="#full-view-affiliation-39" ref="linksrc=author_aff">
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39
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, Massachusetts General Hospital, Boston, MA, USA." href="#full-view-affiliation-40" ref="linksrc=author_aff">
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40
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data-ga-label="Timothy J Maarup">Timothy J Maarup</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA." href="#full-view-affiliation-41" ref="linksrc=author_aff">
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41
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Diana S Johnson">Diana S Johnson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Sheffield Children's Hospital, Sheffield, UK." href="#full-view-affiliation-42" ref="linksrc=author_aff">
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42
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data-ga-label="Katja Venborg Pedersen">Katja Venborg Pedersen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Odense University Hospital, Odense, Denmark." href="#full-view-affiliation-43" ref="linksrc=author_aff">
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43
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Lone W Laulund">Lone W Laulund</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Odense University Hospital, Odense, Denmark." href="#full-view-affiliation-44" ref="linksrc=author_aff">
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44
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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45
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Moira Blyth">Moira Blyth</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK." href="#full-view-affiliation-46" ref="linksrc=author_aff">
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46
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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46
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47
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Rita Ibitoye">Rita Ibitoye</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK." href="#full-view-affiliation-47" ref="linksrc=author_aff">
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47
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Eva H Brilstra">Eva H Brilstra</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#full-view-affiliation-22" ref="linksrc=author_aff">
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22
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Marwan Shinawi">Marwan Shinawi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA." href="#full-view-affiliation-48" ref="linksrc=author_aff">
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48
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Emily Fassi">Emily Fassi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA." href="#full-view-affiliation-48" ref="linksrc=author_aff">
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48
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</a></sup><span class="semicolon">; </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Heinrich Sticht">Heinrich Sticht</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany." href="#full-view-affiliation-49" ref="linksrc=author_aff">
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49
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Anne Gregor">Anne Gregor</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany." href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Hilde Van Esch">Hilde Van Esch</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium." href="#full-view-affiliation-50" ref="linksrc=author_aff">
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50
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Christiane Zweier">Christiane Zweier</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany. christiane.zweier@uk-erlangen.de." href="#full-view-affiliation-51" ref="linksrc=author_aff">
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51
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</a></sup></span>
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Affiliations
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Affiliations
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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
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<span class="authors-list-item "><span class="full-name">Enrico D H Konrad</span><span class="citation-separator"> et al.</span></span>
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|
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4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Horvath+G&cauthor_id=31239556"
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data-ga-label="Gabriella Horvath">Gabriella Horvath</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada." href="#short-view-affiliation-4" ref="linksrc=author_aff">
|
||
4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Santoro+SL&cauthor_id=31239556"
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data-ga-label="Stephanie L Santoro">Stephanie L Santoro</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA." href="#short-view-affiliation-5" ref="linksrc=author_aff">
|
||
5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Shuss+C&cauthor_id=31239556"
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data-ga-label="Christine Shuss">Christine Shuss</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA." href="#short-view-affiliation-5" ref="linksrc=author_aff">
|
||
5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Ziegler+A&cauthor_id=31239556"
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data-ga-label="Alban Ziegler">Alban Ziegler</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Département de Biochimie et Génétique, CHU Angers et Mitolab INSERM 1083-CNRS 6015, Angers, France." href="#short-view-affiliation-6" ref="linksrc=author_aff">
|
||
6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Bonneau+D&cauthor_id=31239556"
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data-ga-label="Dominique Bonneau">Dominique Bonneau</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Département de Biochimie et Génétique, CHU Angers et Mitolab INSERM 1083-CNRS 6015, Angers, France." href="#short-view-affiliation-6" ref="linksrc=author_aff">
|
||
6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Kempers+M&cauthor_id=31239556"
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data-ga-label="Marlies Kempers">Marlies Kempers</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands." href="#short-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Pfundt+R&cauthor_id=31239556"
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data-ga-label="Rolph Pfundt">Rolph Pfundt</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands." href="#short-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Legius+E&cauthor_id=31239556"
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||
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data-ga-label="Eric Legius">Eric Legius</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, KU Leuven and Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium." href="#short-view-affiliation-8" ref="linksrc=author_aff">
|
||
8
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Bouman+A&cauthor_id=31239556"
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data-ga-label="Arjan Bouman">Arjan Bouman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands." href="#short-view-affiliation-9" ref="linksrc=author_aff">
|
||
9
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Stuurman+KE&cauthor_id=31239556"
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data-ga-label="Kyra E Stuurman">Kyra E Stuurman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands." href="#short-view-affiliation-9" ref="linksrc=author_aff">
|
||
9
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=%C3%95unap+K&cauthor_id=31239556"
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data-ga-label="Katrin Õunap">Katrin Õunap</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia." href="#short-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia." href="#short-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Broad Institute of MIT and Harvard, Cambridge, MA, USA." href="#short-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Pajusalu+S&cauthor_id=31239556"
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data-ga-label="Sander Pajusalu">Sander Pajusalu</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia." href="#short-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia." href="#short-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, Yale University School of Medicine, New Haven, CT, USA." href="#short-view-affiliation-13" ref="linksrc=author_aff">
|
||
13
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Wojcik+MH&cauthor_id=31239556"
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data-ga-label="Monica H Wojcik">Monica H Wojcik</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Broad Institute of MIT and Harvard, Cambridge, MA, USA." href="#short-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Divisions of Genetics and Genomics and Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA." href="#short-view-affiliation-14" ref="linksrc=author_aff">
|
||
14
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Vasileiou+G&cauthor_id=31239556"
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data-ga-label="Georgia Vasileiou">Georgia Vasileiou</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Le+Guyader+G&cauthor_id=31239556"
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data-ga-label="Gwenaël Le Guyader">Gwenaël Le Guyader</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Clinique, CHU de Poitiers, Poitiers, France." href="#short-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Schnelle+HM&cauthor_id=31239556"
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data-ga-label="Hege M Schnelle">Hege M Schnelle</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway." href="#short-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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||
href="/?term=Berland+S&cauthor_id=31239556"
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data-ga-label="Siren Berland">Siren Berland</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway." href="#short-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Zonneveld-Huijssoon+E&cauthor_id=31239556"
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data-ga-label="Evelien Zonneveld-Huijssoon">Evelien Zonneveld-Huijssoon</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands." href="#short-view-affiliation-17" ref="linksrc=author_aff">
|
||
17
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Kersten+S&cauthor_id=31239556"
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data-ga-label="Simone Kersten">Simone Kersten</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands." href="#short-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Gupta+A&cauthor_id=31239556"
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data-ga-label="Aditi Gupta">Aditi Gupta</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA." href="#short-view-affiliation-18" ref="linksrc=author_aff">
|
||
18
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Blackburn+PR&cauthor_id=31239556"
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data-ga-label="Patrick R Blackburn">Patrick R Blackburn</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA." href="#short-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ellingson+MS&cauthor_id=31239556"
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data-ga-label="Marissa S Ellingson">Marissa S Ellingson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA." href="#short-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ferber+MJ&cauthor_id=31239556"
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data-ga-label="Matthew J Ferber">Matthew J Ferber</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA." href="#short-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Dhamija+R&cauthor_id=31239556"
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data-ga-label="Radhika Dhamija">Radhika Dhamija</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA." href="#short-view-affiliation-20" ref="linksrc=author_aff">
|
||
20
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Klee+EW&cauthor_id=31239556"
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data-ga-label="Eric W Klee">Eric W Klee</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA." href="#short-view-affiliation-18" ref="linksrc=author_aff">
|
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18
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=McEntagart+M&cauthor_id=31239556"
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data-ga-label="Meriel McEntagart">Meriel McEntagart</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="South West Thames Regional Genetics Centre, St. George's Healthcare NHS Trust, St. George's, University of London, London, UK." href="#short-view-affiliation-21" ref="linksrc=author_aff">
|
||
21
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Lichtenbelt+KD&cauthor_id=31239556"
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data-ga-label="Klaske D Lichtenbelt">Klaske D Lichtenbelt</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#short-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Kenney+A&cauthor_id=31239556"
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data-ga-label="Amy Kenney">Amy Kenney</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA." href="#short-view-affiliation-23" ref="linksrc=author_aff">
|
||
23
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Vergano+SA&cauthor_id=31239556"
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data-ga-label="Samantha A Vergano">Samantha A Vergano</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA." href="#short-view-affiliation-23" ref="linksrc=author_aff">
|
||
23
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Abou+Jamra+R&cauthor_id=31239556"
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data-ga-label="Rami Abou Jamra">Rami Abou Jamra</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany." href="#short-view-affiliation-24" ref="linksrc=author_aff">
|
||
24
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Platzer+K&cauthor_id=31239556"
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data-ga-label="Konrad Platzer">Konrad Platzer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany." href="#short-view-affiliation-24" ref="linksrc=author_aff">
|
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24
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ella+Pierpont+M&cauthor_id=31239556"
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data-ga-label="Mary Ella Pierpont">Mary Ella Pierpont</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA." href="#short-view-affiliation-25" ref="linksrc=author_aff">
|
||
25
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Khattar+D&cauthor_id=31239556"
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data-ga-label="Divya Khattar">Divya Khattar</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA." href="#short-view-affiliation-26" ref="linksrc=author_aff">
|
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26
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Hopkin+RJ&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
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data-ga-label="Robert J Hopkin">Robert J Hopkin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA." href="#short-view-affiliation-26" ref="linksrc=author_aff">
|
||
26
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Martin+RJ&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
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data-ga-label="Richard J Martin">Richard J Martin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK." href="#short-view-affiliation-27" ref="linksrc=author_aff">
|
||
27
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Jongmans+MCJ&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
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data-ga-label="Marjolijn C J Jongmans">Marjolijn C J Jongmans</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands." href="#short-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Chang+VY&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
|
||
data-ga-label="Vivian Y Chang">Vivian Y Chang</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Pediatric Hematology-Oncology, Department of Pediatrics, David Geffen School of Medicine, Los Angeles, CA, USA." href="#short-view-affiliation-28" ref="linksrc=author_aff">
|
||
28
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Jonsson Comprehensive Cancer Center, University of California, Los Angeles, CA, USA." href="#short-view-affiliation-29" ref="linksrc=author_aff">
|
||
29
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Martinez-Agosto+JA&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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||
data-ga-action="author_link"
|
||
data-ga-label="Julian A Martinez-Agosto">Julian A Martinez-Agosto</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA." href="#short-view-affiliation-30" ref="linksrc=author_aff">
|
||
30
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA." href="#short-view-affiliation-31" ref="linksrc=author_aff">
|
||
31
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Kuismin+O&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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||
data-ga-action="author_link"
|
||
data-ga-label="Outi Kuismin">Outi Kuismin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland." href="#short-view-affiliation-32" ref="linksrc=author_aff">
|
||
32
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="PEDEGO Research Unit, University of Oulu, Oulu, Finland." href="#short-view-affiliation-33" ref="linksrc=author_aff">
|
||
33
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland." href="#short-view-affiliation-34" ref="linksrc=author_aff">
|
||
34
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland." href="#short-view-affiliation-35" ref="linksrc=author_aff">
|
||
35
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Kurki+MI&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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||
data-ga-action="author_link"
|
||
data-ga-label="Mitja I Kurki">Mitja I Kurki</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland." href="#short-view-affiliation-32" ref="linksrc=author_aff">
|
||
32
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA." href="#short-view-affiliation-36" ref="linksrc=author_aff">
|
||
36
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA." href="#short-view-affiliation-37" ref="linksrc=author_aff">
|
||
37
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Pietil%C3%A4inen+O&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Olli Pietiläinen">Olli Pietiläinen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA." href="#short-view-affiliation-37" ref="linksrc=author_aff">
|
||
37
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Stem Cell and Regenerative Biology, University of Harvard, Cambridge, MA, USA." href="#short-view-affiliation-38" ref="linksrc=author_aff">
|
||
38
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Palotie+A&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Aarno Palotie">Aarno Palotie</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland." href="#short-view-affiliation-32" ref="linksrc=author_aff">
|
||
32
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA." href="#short-view-affiliation-36" ref="linksrc=author_aff">
|
||
36
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA." href="#short-view-affiliation-37" ref="linksrc=author_aff">
|
||
37
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA." href="#short-view-affiliation-39" ref="linksrc=author_aff">
|
||
39
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, Massachusetts General Hospital, Boston, MA, USA." href="#short-view-affiliation-40" ref="linksrc=author_aff">
|
||
40
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Maarup+TJ&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Timothy J Maarup">Timothy J Maarup</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA." href="#short-view-affiliation-41" ref="linksrc=author_aff">
|
||
41
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Johnson+DS&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Diana S Johnson">Diana S Johnson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Sheffield Children's Hospital, Sheffield, UK." href="#short-view-affiliation-42" ref="linksrc=author_aff">
|
||
42
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Venborg+Pedersen+K&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Katja Venborg Pedersen">Katja Venborg Pedersen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Odense University Hospital, Odense, Denmark." href="#short-view-affiliation-43" ref="linksrc=author_aff">
|
||
43
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Laulund+LW&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Lone W Laulund">Lone W Laulund</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Odense University Hospital, Odense, Denmark." href="#short-view-affiliation-44" ref="linksrc=author_aff">
|
||
44
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Lynch+SA&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Sally A Lynch">Sally A Lynch</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University College Dublin and Temple Street Children's Hospital, Dublin, Ireland." href="#short-view-affiliation-45" ref="linksrc=author_aff">
|
||
45
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Blyth+M&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Moira Blyth">Moira Blyth</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK." href="#short-view-affiliation-46" ref="linksrc=author_aff">
|
||
46
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Prescott+K&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Katrina Prescott">Katrina Prescott</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK." href="#short-view-affiliation-46" ref="linksrc=author_aff">
|
||
46
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Canham+N&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Natalie Canham">Natalie Canham</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK." href="#short-view-affiliation-47" ref="linksrc=author_aff">
|
||
47
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Ibitoye+R&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Rita Ibitoye">Rita Ibitoye</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK." href="#short-view-affiliation-47" ref="linksrc=author_aff">
|
||
47
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Brilstra+EH&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Eva H Brilstra">Eva H Brilstra</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands." href="#short-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Shinawi+M&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Marwan Shinawi">Marwan Shinawi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA." href="#short-view-affiliation-48" ref="linksrc=author_aff">
|
||
48
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Fassi+E&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Emily Fassi">Emily Fassi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA." href="#short-view-affiliation-48" ref="linksrc=author_aff">
|
||
48
|
||
</a></sup><span class="semicolon">; </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=DDD+Study%5BCorporate+Author%5D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="DDD Study">DDD Study</a><span class="semicolon">; </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Sticht+H&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Heinrich Sticht">Heinrich Sticht</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany." href="#short-view-affiliation-49" ref="linksrc=author_aff">
|
||
49
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Gregor+A&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Anne Gregor">Anne Gregor</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Van+Esch+H&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Hilde Van Esch">Hilde Van Esch</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium." href="#short-view-affiliation-50" ref="linksrc=author_aff">
|
||
50
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Zweier+C&cauthor_id=31239556"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Christiane Zweier">Christiane Zweier</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany. christiane.zweier@uk-erlangen.de." href="#short-view-affiliation-51" ref="linksrc=author_aff">
|
||
51
|
||
</a></sup></span>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="affiliations">
|
||
<h3 class="title">
|
||
Affiliations
|
||
</h3>
|
||
<ul class="item-list">
|
||
|
||
<li data-affiliation-id="short-view-affiliation-1"
|
||
id="short-view-affiliation-1"
|
||
><sup class="key">1</sup> Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-2"
|
||
id="short-view-affiliation-2"
|
||
><sup class="key">2</sup> Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-3"
|
||
id="short-view-affiliation-3"
|
||
><sup class="key">3</sup> Institute of Experimental and Clinical Pharmacology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-4"
|
||
id="short-view-affiliation-4"
|
||
><sup class="key">4</sup> Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-5"
|
||
id="short-view-affiliation-5"
|
||
><sup class="key">5</sup> Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-6"
|
||
id="short-view-affiliation-6"
|
||
><sup class="key">6</sup> Département de Biochimie et Génétique, CHU Angers et Mitolab INSERM 1083-CNRS 6015, Angers, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-7"
|
||
id="short-view-affiliation-7"
|
||
><sup class="key">7</sup> Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-8"
|
||
id="short-view-affiliation-8"
|
||
><sup class="key">8</sup> Department of Human Genetics, KU Leuven and Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-9"
|
||
id="short-view-affiliation-9"
|
||
><sup class="key">9</sup> Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-10"
|
||
id="short-view-affiliation-10"
|
||
><sup class="key">10</sup> Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-11"
|
||
id="short-view-affiliation-11"
|
||
><sup class="key">11</sup> Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-12"
|
||
id="short-view-affiliation-12"
|
||
><sup class="key">12</sup> The Broad Institute of MIT and Harvard, Cambridge, MA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-13"
|
||
id="short-view-affiliation-13"
|
||
><sup class="key">13</sup> Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-14"
|
||
id="short-view-affiliation-14"
|
||
><sup class="key">14</sup> Divisions of Genetics and Genomics and Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-15"
|
||
id="short-view-affiliation-15"
|
||
><sup class="key">15</sup> Service de Génétique Clinique, CHU de Poitiers, Poitiers, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-16"
|
||
id="short-view-affiliation-16"
|
||
><sup class="key">16</sup> Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-17"
|
||
id="short-view-affiliation-17"
|
||
><sup class="key">17</sup> Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-18"
|
||
id="short-view-affiliation-18"
|
||
><sup class="key">18</sup> Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-19"
|
||
id="short-view-affiliation-19"
|
||
><sup class="key">19</sup> Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-20"
|
||
id="short-view-affiliation-20"
|
||
><sup class="key">20</sup> Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-21"
|
||
id="short-view-affiliation-21"
|
||
><sup class="key">21</sup> South West Thames Regional Genetics Centre, St. George's Healthcare NHS Trust, St. George's, University of London, London, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-22"
|
||
id="short-view-affiliation-22"
|
||
><sup class="key">22</sup> Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-23"
|
||
id="short-view-affiliation-23"
|
||
><sup class="key">23</sup> Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-24"
|
||
id="short-view-affiliation-24"
|
||
><sup class="key">24</sup> Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-25"
|
||
id="short-view-affiliation-25"
|
||
><sup class="key">25</sup> Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-26"
|
||
id="short-view-affiliation-26"
|
||
><sup class="key">26</sup> Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-27"
|
||
id="short-view-affiliation-27"
|
||
><sup class="key">27</sup> The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-28"
|
||
id="short-view-affiliation-28"
|
||
><sup class="key">28</sup> Division of Pediatric Hematology-Oncology, Department of Pediatrics, David Geffen School of Medicine, Los Angeles, CA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-29"
|
||
id="short-view-affiliation-29"
|
||
><sup class="key">29</sup> Jonsson Comprehensive Cancer Center, University of California, Los Angeles, CA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-30"
|
||
id="short-view-affiliation-30"
|
||
><sup class="key">30</sup> Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-31"
|
||
id="short-view-affiliation-31"
|
||
><sup class="key">31</sup> Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-32"
|
||
id="short-view-affiliation-32"
|
||
><sup class="key">32</sup> Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-33"
|
||
id="short-view-affiliation-33"
|
||
><sup class="key">33</sup> PEDEGO Research Unit, University of Oulu, Oulu, Finland.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-34"
|
||
id="short-view-affiliation-34"
|
||
><sup class="key">34</sup> Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-35"
|
||
id="short-view-affiliation-35"
|
||
><sup class="key">35</sup> Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-36"
|
||
id="short-view-affiliation-36"
|
||
><sup class="key">36</sup> Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-37"
|
||
id="short-view-affiliation-37"
|
||
><sup class="key">37</sup> The Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-38"
|
||
id="short-view-affiliation-38"
|
||
><sup class="key">38</sup> Department of Stem Cell and Regenerative Biology, University of Harvard, Cambridge, MA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-39"
|
||
id="short-view-affiliation-39"
|
||
><sup class="key">39</sup> Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-40"
|
||
id="short-view-affiliation-40"
|
||
><sup class="key">40</sup> Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-41"
|
||
id="short-view-affiliation-41"
|
||
><sup class="key">41</sup> Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-42"
|
||
id="short-view-affiliation-42"
|
||
><sup class="key">42</sup> Sheffield Children's Hospital, Sheffield, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-43"
|
||
id="short-view-affiliation-43"
|
||
><sup class="key">43</sup> Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-44"
|
||
id="short-view-affiliation-44"
|
||
><sup class="key">44</sup> Department of Pediatrics, Odense University Hospital, Odense, Denmark.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-45"
|
||
id="short-view-affiliation-45"
|
||
><sup class="key">45</sup> University College Dublin and Temple Street Children's Hospital, Dublin, Ireland.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-46"
|
||
id="short-view-affiliation-46"
|
||
><sup class="key">46</sup> Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-47"
|
||
id="short-view-affiliation-47"
|
||
><sup class="key">47</sup> North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-48"
|
||
id="short-view-affiliation-48"
|
||
><sup class="key">48</sup> Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-49"
|
||
id="short-view-affiliation-49"
|
||
><sup class="key">49</sup> Institute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-50"
|
||
id="short-view-affiliation-50"
|
||
><sup class="key">50</sup> Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-51"
|
||
id="short-view-affiliation-51"
|
||
><sup class="key">51</sup> Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany. christiane.zweier@uk-erlangen.de.</li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
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|
||
|
||
|
||
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||
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|
||
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||
<li>
|
||
<span class="identifier pubmed">
|
||
<span class="id-label">
|
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|
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PMID:
|
||
|
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|
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|
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|
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<strong class="current-id" title="PubMed ID">31239556</strong>
|
||
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PMCID:
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PMC6892744
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|
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<span class="identifier doi">
|
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|
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DOI:
|
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|
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target="_blank"
|
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rel="noopener"
|
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ref="linksrc=article_id_link&article_id=10.1038/s41436-019-0585-z&id_type=DOI"
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|
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>
|
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10.1038/s41436-019-0585-z
|
||
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|
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|
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|
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|
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</span>
|
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|
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|
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|
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Abstract
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<p>
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|
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<strong class="sub-title">
|
||
Purpose:
|
||
</strong>
|
||
|
||
Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD).
|
||
</p>
|
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|
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|
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|
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Methods:
|
||
</strong>
|
||
|
||
Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage alteration on nervous system development and function.
|
||
</p>
|
||
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Results:
|
||
</strong>
|
||
|
||
The individuals in our cohort carried 2 deletions, 8 likely gene-disruptive, 2 splice-site, and 20 different missense variants, most of them de novo. Two cases were familial. The associated phenotype was of variable severity extending from mild developmental delay or normal IQ to severe intellectual disability. Feeding difficulties and behavioral abnormalities were common, and variable other findings including growth restriction and cardiac defects were observed. RNA-sequencing in five individuals identified 3828 deregulated genes enriched for known NDD genes and biological processes such as transcriptional regulation. Ctcf dosage alteration in Drosophila resulted in impaired gross neurological functioning and learning and memory deficits.
|
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<strong class="sub-title">
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Conclusion:
|
||
</strong>
|
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|
||
We significantly broaden the mutational and clinical spectrum ofCTCF-associated NDDs. Our data shed light onto the functional role of CTCF by identifying deregulated genes and show that Ctcf alterations result in nervous system defects in Drosophila.
|
||
</p>
|
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<p>
|
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|
||
<strong class="sub-title">
|
||
Keywords:
|
||
</strong>
|
||
|
||
CTCF; Drosophila melanogaster; chromatin organization; intellectual disability; neurodevelopmental disorders.
|
||
</p>
|
||
|
||
|
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<a href="/disclaimer/" target="_blank" data-ga-category="literature_resources"
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data-ga-action="disclaimer_link" data-ga-label="under_abstract">PubMed Disclaimer</a>
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|
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<div class="conflict-of-interest" id="conflict-of-interest">
|
||
<h2 class="title">
|
||
Conflict of interest statement
|
||
</h2>
|
||
|
||
<div class="statement">
|
||
|
||
|
||
|
||
<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one">The authors declare no conflicts of interest.</p>
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
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|
||
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<div class="figures" id="figures">
|
||
<h2 class="title">
|
||
Figures
|
||
</h2>
|
||
|
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<div class="figures-list" id="slides-container"
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data-image-alt="Fig. 1"
|
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|
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data-figure-id="Fig1">
|
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id="article-image-0"
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9bed/6892744/712dca180e79/41436_2019_585_Fig1_HTML.gif"
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alt="Fig. 1" />
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<strong class="figure-label">
|
||
<p> Fig. 1 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><b> Variants identified in </b> <b> <i> CTCF </i> </b> .…</div>
|
||
|
||
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|
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<strong class="figure-label">
|
||
<p> Fig. 1 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><b> Variants identified in </b> <b> <i> CTCF </i> </b> . <b> a </b> Schematic drawing of the <i> CTCF </i> gene with…</div>
|
||
|
||
|
||
|
||
|
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|
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||
|
||
|
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|
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|
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<strong class="figure-label">
|
||
Fig. 1
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><b>Variants identified in</b><b><i>CTCF</i></b>. <b>a</b> Schematic drawing of the <i>CTCF</i> gene with known and novel
|
||
variants. Noncoding exons are displayed in light gray, coding
|
||
exons in medium gray, and exons encoding zinc fingers in dark
|
||
gray. <b>b</b> Schematic drawing of
|
||
the CTCF protein. Missense or in-frame variants are displayed
|
||
above and likely gene-disruptive variants below the scheme.
|
||
Nonbold variants and p.(Arg567Trp) were published previously
|
||
with or *without clinical details.<sup>–, –</sup> Underlined variants are
|
||
recurrent. All identified pathogenic or likely pathogenic
|
||
in-frame or missense variants affect one of the 11 zinc finger
|
||
domains.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
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<figure class="figure-item "
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href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9bed/6892744/fff824245ba0/41436_2019_585_Fig2_HTML.jpg"
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itemprop="contentUrl"
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data-image-width="667"
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|
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data-image-alt="Fig. 2"
|
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data-pmc-id="PMC6892744"
|
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<img class="figure-thumb" itemprop="thumbnail"
|
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id="article-image-1"
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9bed/6892744/1090d2cd80e6/41436_2019_585_Fig2_HTML.gif"
|
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alt="Fig. 2" />
|
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|
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|
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|
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|
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|
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|
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<strong class="figure-label">
|
||
<p> Fig. 2 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><b> Facial gestalt of individuals with… </b></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
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|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 2 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><b> Facial gestalt of individuals with pathogenic variants in </b> <b> <i> CTCF </i> </b> . Note minor facial…</div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-1" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Fig. 2
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><b>Facial gestalt of individuals with
|
||
pathogenic variants in</b><b><i>CTCF</i></b>. Note minor facial
|
||
dysmorphism such as a long face (e.g., I5, I8, I11, I27), a
|
||
prominent forehead (e.g., I4, I8, I18, I33, I35) or a bulbous
|
||
nasal tip and long palpebral fissures in several individuals,
|
||
but no overall distinct, recognizable facial
|
||
gestalt.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
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|
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data-label-slug="fig-3">
|
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<a class="figure-link"
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href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9bed/6892744/a0d3a049adbd/41436_2019_585_Fig3_HTML.jpg"
|
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itemprop="contentUrl"
|
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aria-describedby="figure-caption-2"
|
||
role="button"
|
||
data-image-width="670"
|
||
data-image-height="408"
|
||
data-image-alt="Fig. 3"
|
||
data-pmc-id="PMC6892744"
|
||
data-figure-id="Fig3">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-2"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9bed/6892744/6a83d69f7a10/41436_2019_585_Fig3_HTML.gif"
|
||
alt="Fig. 3" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="670">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="408">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 3 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><b> Transcriptome analysis in </b> <b> <i> CTCF </i> </b> <b> -deficient… </b></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 3 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><b> Transcriptome analysis in </b> <b> <i> CTCF </i> </b> <b> -deficient individuals. </b> <b> a </b> Heatmap displaying the 3828 differentially expressed…</div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-2" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Fig. 3
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><b>Transcriptome analysis
|
||
in</b><b><i>CTCF</i></b><b>-deficient individuals.</b><b>a</b> Heatmap displaying the 3828
|
||
differentially expressed genes between five affected individuals
|
||
and eight healthy controls and depicting the expression
|
||
similarity between individuals with corrected <i>p</i> value <0.01; 2161 genes were
|
||
downregulated and 1667 genes were upregulated in the affected
|
||
individuals. Individuals are clustered by Euclidean distance,
|
||
and genes are sorted by adjusted <i>p</i> value. Blue, downregulated; red, upregulated.<b>b</b>, <b>c</b> Gene Ontology (GO) term analysis on <b>b</b> downregulated and <b>c</b> upregulated genes depicting the top
|
||
five GO terms for biological processes <i>FDR</i> false discovery rate.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
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itemprop="associatedMedia"
|
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|
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data-label-slug="fig-4">
|
||
<a class="figure-link"
|
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href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9bed/6892744/2fd3897b76ef/41436_2019_585_Fig4_HTML.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-3"
|
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role="button"
|
||
data-image-width="701"
|
||
data-image-height="479"
|
||
data-image-alt="Fig. 4"
|
||
data-pmc-id="PMC6892744"
|
||
data-figure-id="Fig4">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-3"
|
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9bed/6892744/0f50f060e6b9/41436_2019_585_Fig4_HTML.gif"
|
||
alt="Fig. 4" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="701">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="479">
|
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|
||
|
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<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 4 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><b> Impact of </b> <b> <i> Ctcf </i> </b> <b> dosage alteration… </b></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Fig. 4 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><b> Impact of </b> <b> <i> Ctcf </i> </b> <b> dosage alteration on fly gross neurological functioning and learning and… </b></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-3" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Fig. 4
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><b>Impact of</b><b><i>Ctcf</i></b><b>dosage alteration on fly gross
|
||
neurological functioning and learning and memory.</b><b>a</b>–<b>c</b> Flies with knockdown of <i>Ctcf</i> in <b>a</b> motoneurons and <b>b</b> all neurons but not in <b>c</b> glia showed significant locomotor impairment
|
||
in the climbing assay. Pan-neuronal overexpression <b>b</b> had no effect, but <b>c</b> glial and <b>a</b> motoneuronal driven overexpression of<i>Ctcf</i> resulted in
|
||
significant locomotor impairment. The numbers below the columns
|
||
represent the samples in groups of ten flies tested per
|
||
genotype. <b>d</b> In the courtship
|
||
conditioning paradigm, the hypomorphic <i>Ctcf</i> mutant line showed highly significant
|
||
impairment of learning (L) and short-term memory (STM) and
|
||
significant impairment of long-term memory (LTM). <b>e</b> In accordance, mushroom body–driven
|
||
(UAS-<i>Dcr-2</i>;<i>247</i>-GAL4) knockdown of <i>Ctcf</i> resulted in significantly
|
||
reduced short-term memory (STM). Similar tendencies were
|
||
observed for L and LTM, but not reaching significance. <b>f</b> Overexpression of <i>Ctcf</i> in the mushroom body did not
|
||
result in a significant effect on L and STM, but in a
|
||
significant impairment of long-term memory. Graphs display mean
|
||
values of the number of animals indicated below the columns per
|
||
genotype from at least three independent test days. Differences
|
||
between learning indexes of control and mutant flies were
|
||
statistically compared by a randomization test with 10,000
|
||
bootstrap replicates with a custom R
|
||
script. Error bars depict SEM.
|
||
Asterisks indicate statistical significance (<i>p</i> value: *≤0.05, **≤0.01,
|
||
***≤0.001).</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
</div>
|
||
|
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|
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Klenova EM, Nicolas RH, Paterson HF, et al. CTCF, a conserved nuclear factor required for optimal transcriptional activity of the chicken c-myc gene, is an 11-Zn-finger protein differentially expressed in multiple forms. Mol Cell Biol. 1993;13:7612–7624. doi: 10.1128/MCB.13.12.7612.
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|
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data-search-term=""Intellectual Disability/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Intellectual Disability/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Male"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-17"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Male
|
||
</button><div id="keyword-actions-mesh-terms-17"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Male"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Male"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Male">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Male"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Male">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Male"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Male"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Mutation / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-18"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Mutation / genetics
|
||
</button><div id="keyword-actions-mesh-terms-18"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Mutation / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Mutation%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Mutation%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Mutation/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Mutation / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Mutation"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Mutation / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Mutation/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Mutation/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Mutation, Missense / genetics"
|
||
tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-19"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Mutation, Missense / genetics
|
||
</button><div id="keyword-actions-mesh-terms-19"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Mutation, Missense / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Mutation%2C+Missense%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Mutation%2C+Missense%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Mutation, Missense/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Mutation, Missense / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Mutation%2C+Missense"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Mutation, Missense / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Mutation, Missense/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Mutation, Missense/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
||
aria-label="Toggle dropdown menu for keyword Neurodevelopmental Disorders / genetics*"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-20"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Neurodevelopmental Disorders / genetics*
|
||
</button><div id="keyword-actions-mesh-terms-major-20"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Neurodevelopmental Disorders / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Neurodevelopmental+Disorders%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Neurodevelopmental+Disorders%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Neurodevelopmental Disorders/genetics"[MAJR]"
|
||
data-ga-category="search"
|
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data-ga-action="mesh_term"
|
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data-ga-label="Neurodevelopmental Disorders / genetics*">
|
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Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Neurodevelopmental+Disorders"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Neurodevelopmental Disorders / genetics*">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Neurodevelopmental Disorders/genetics"[MAJR]"
|
||
data-ga-category="search"
|
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data-ga-action="add_to_search"
|
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data-ga-label=""Neurodevelopmental Disorders/genetics"[MAJR]"
|
||
href="#">
|
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Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Neurodevelopmental Disorders / metabolism"
|
||
tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-21"
|
||
aria-expanded="false"
|
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data-pinger-ignore>
|
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Neurodevelopmental Disorders / metabolism
|
||
</button><div id="keyword-actions-mesh-terms-21"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Neurodevelopmental Disorders / metabolism"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Neurodevelopmental+Disorders%2Fmetabolism%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Neurodevelopmental+Disorders%2Fmetabolism%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Neurodevelopmental Disorders/metabolism"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Neurodevelopmental Disorders / metabolism">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Neurodevelopmental+Disorders"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Neurodevelopmental Disorders / metabolism">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Neurodevelopmental Disorders/metabolism"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Neurodevelopmental Disorders/metabolism"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Transcription Factors / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-22"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Transcription Factors / genetics
|
||
</button><div id="keyword-actions-mesh-terms-22"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Transcription Factors / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Transcription+Factors%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Transcription+Factors%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Transcription Factors/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Transcription Factors / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Transcription+Factors"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Transcription Factors / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Transcription Factors/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Transcription Factors/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Young Adult"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-23"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Young Adult
|
||
</button><div id="keyword-actions-mesh-terms-23"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Young Adult"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Young+Adult%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Young+Adult%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Young Adult"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Young Adult">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Young+Adult"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Young Adult">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Young Adult"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Young Adult"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div id="substances" class="substances keywords-section">
|
||
<h2 class="title">
|
||
Substances
|
||
</h2>
|
||
|
||
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword CCCTC-Binding Factor"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
CCCTC-Binding Factor
|
||
</button><div id="keyword-actions-substances-0"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword CCCTC-Binding Factor"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22CCCTC-Binding+Factor%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22CCCTC-Binding+Factor%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="CCCTC-Binding Factor"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="CCCTC-Binding Factor">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22CCCTC-Binding+Factor%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="CCCTC-Binding Factor">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""CCCTC-Binding Factor"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""CCCTC-Binding Factor"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword CTCF protein, Drosophila"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-1"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
CTCF protein, Drosophila
|
||
</button><div id="keyword-actions-substances-1"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword CTCF protein, Drosophila"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22CTCF+protein%2C+Drosophila%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22CTCF+protein%2C+Drosophila%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="CTCF protein, Drosophila"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="CTCF protein, Drosophila">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22CTCF+protein%2C+Drosophila%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="CTCF protein, Drosophila">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""CTCF protein, Drosophila"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
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data-ga-label=""CTCF protein, Drosophila"[nm]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword CTCF protein, human"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-2"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
CTCF protein, human
|
||
</button><div id="keyword-actions-substances-2"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword CTCF protein, human"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22CTCF+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22CTCF+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="CTCF protein, human"[nm]"
|
||
data-ga-category="search"
|
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data-ga-action="substance"
|
||
data-ga-label="CTCF protein, human">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=%22CTCF+protein%2C+human%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="CTCF protein, human">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""CTCF protein, human"[nm]"
|
||
data-ga-category="search"
|
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data-ga-action="add_to_search"
|
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data-ga-label=""CTCF protein, human"[nm]"
|
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href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Chromatin"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-3"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Chromatin
|
||
</button><div id="keyword-actions-substances-3"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
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