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<input type="hidden" name="csrfmiddlewaretoken" value="wopiQmTyrazTGqjZBNv9FJy63L3HEQLnNb9ntcmU1LmnARpPe68b9R4KBPLTxrjH">
<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: 33874999 - PubMed</span>
<input type="hidden" name="email-subject" value="1 selected item: 33874999"/>
<input type="hidden" name="email-subject-hash" value="033a781eaa0bd5f6a55225902d2d996c3264bf60053c988d5854d6aaa2dc0f05"/>
</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="wopiQmTyrazTGqjZBNv9FJy63L3HEQLnNb9ntcmU1LmnARpPe68b9R4KBPLTxrjH">
<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="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
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/">
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<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="wopiQmTyrazTGqjZBNv9FJy63L3HEQLnNb9ntcmU1LmnARpPe68b9R4KBPLTxrjH">
<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="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</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">
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<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="wopiQmTyrazTGqjZBNv9FJy63L3HEQLnNb9ntcmU1LmnARpPe68b9R4KBPLTxrjH">
<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="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</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="33874999">
<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://genomemedicine.biomedcentral.com/articles/10.1186/s13073-021-00870-6"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=3196&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=33874999&amp;db=pubmed&amp;nlmid=101475844"
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BioMed Central
</span></a><a class="link-item
pmc
"
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/33874999/"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=True&amp;PrId=3494&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=33874999&amp;db=pubmed&amp;nlmid=101475844"
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data-ga-category="full_text"
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Free PMC article
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<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="/33874999/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/33874999/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="33874999" 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%2F33874999%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="wopiQmTyrazTGqjZBNv9FJy63L3HEQLnNb9ntcmU1LmnARpPe68b9R4KBPLTxrjH"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
id="collections-action-dialog-new"
class="collections-new"
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<h1 class="heading-title">
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
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data-ga-label="Ginevra Zanni">Ginevra Zanni</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children&#x27;s Hospital, IRCCS, 00146, Rome, Italy." href="#full-view-affiliation-18" ref="linksrc=author_aff">
18
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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18
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Zweier+C&amp;cauthor_id=33874999"
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data-ga-label="Christiane Zweier">Christiane Zweier</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany." href="#full-view-affiliation-19" ref="linksrc=author_aff">
19
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Schuhmann+S&amp;cauthor_id=33874999"
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19
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Wiesener+A&amp;cauthor_id=33874999"
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19
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Pepper+M&amp;cauthor_id=33874999"
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data-ga-label="Micah Pepper">Micah Pepper</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center on Human Development and Disability, University of Washington, Seattle, WA, USA." href="#full-view-affiliation-20" ref="linksrc=author_aff">
20
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Seattle Children&#x27;s Autism Center, Seattle, WA, USA." href="#full-view-affiliation-21" ref="linksrc=author_aff">
21
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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20
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Seattle Children&#x27;s Autism Center, Seattle, WA, USA." href="#full-view-affiliation-21" ref="linksrc=author_aff">
21
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Torti+E&amp;cauthor_id=33874999"
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data-ga-label="Erin Torti">Erin Torti</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="GeneDX, Gaithersburg, MD, USA." href="#full-view-affiliation-22" ref="linksrc=author_aff">
22
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Abid+F&amp;cauthor_id=33874999"
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data-ga-label="Farida Abid">Farida Abid</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA." href="#full-view-affiliation-23" ref="linksrc=author_aff">
23
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Texas Children&#x27;s Hospital, Houston, TX, USA." href="#full-view-affiliation-24" ref="linksrc=author_aff">
24
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Anselm+I&amp;cauthor_id=33874999"
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data-ga-label="Irina Anselm">Irina Anselm</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neurology, Boston Children&#x27;s Hospital, Harvard Medical School, Boston, MA, USA." href="#full-view-affiliation-25" ref="linksrc=author_aff">
25
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Siddharth Srivastava">Siddharth Srivastava</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neurology, Boston Children&#x27;s Hospital, Harvard Medical School, Boston, MA, USA." href="#full-view-affiliation-25" ref="linksrc=author_aff">
25
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Atwal+P&amp;cauthor_id=33874999"
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data-ga-label="Paldeep Atwal">Paldeep Atwal</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="The Atwal Clinic: Genomic &amp; Personalized Medicine, Jacksonville, FL, USA." href="#full-view-affiliation-26" ref="linksrc=author_aff">
26
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bacino+CA&amp;cauthor_id=33874999"
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data-ga-label="Carlos A Bacino">Carlos A Bacino</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Molecular &amp; Human Genetics, Baylor College of Medicine, Houston, TX, USA." href="#full-view-affiliation-3" ref="linksrc=author_aff">
3
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bhat+G&amp;cauthor_id=33874999"
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data-ga-label="Gifty Bhat">Gifty Bhat</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA." href="#full-view-affiliation-27" ref="linksrc=author_aff">
27
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Cobian+K&amp;cauthor_id=33874999"
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data-ga-label="Katherine Cobian">Katherine Cobian</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA." href="#full-view-affiliation-27" ref="linksrc=author_aff">
27
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bird+LM&amp;cauthor_id=33874999"
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data-ga-label="Lynne M Bird">Lynne M Bird</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, University of California San Diego, San Diego, CA, USA." href="#full-view-affiliation-28" ref="linksrc=author_aff">
28
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Genetics/Dysmorphology, Rady Children&#x27;s Hospital San Diego, San Diego, CA, USA." href="#full-view-affiliation-29" ref="linksrc=author_aff">
29
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Friedman+J&amp;cauthor_id=33874999"
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data-ga-label="Jennifer Friedman">Jennifer Friedman</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, University of California San Diego, San Diego, CA, USA." href="#full-view-affiliation-28" ref="linksrc=author_aff">
28
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Rady Children&#x27;s Institute for Genomic Medicine, San Diego, CA, USA." href="#full-view-affiliation-30" ref="linksrc=author_aff">
30
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neurosciences, University of California San Diego, San Diego, CA, USA." href="#full-view-affiliation-31" ref="linksrc=author_aff">
31
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Wright+MS&amp;cauthor_id=33874999"
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data-ga-label="Meredith S Wright">Meredith S Wright</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, University of California San Diego, San Diego, CA, USA." href="#full-view-affiliation-28" ref="linksrc=author_aff">
28
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Rady Children&#x27;s Institute for Genomic Medicine, San Diego, CA, USA." href="#full-view-affiliation-30" ref="linksrc=author_aff">
30
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Callewaert+B&amp;cauthor_id=33874999"
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data-ga-label="Bert Callewaert">Bert Callewaert</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium." href="#full-view-affiliation-32" ref="linksrc=author_aff">
32
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Petit+F&amp;cauthor_id=33874999"
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data-ga-label="Florence Petit">Florence Petit</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Clinique de Génétique, Hôpital Jeanne de Flandre, Bâtiment Modulaire, CHU, 59037, Lille Cedex, France." href="#full-view-affiliation-33" ref="linksrc=author_aff">
33
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mathieu+S&amp;cauthor_id=33874999"
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data-ga-label="Sophie Mathieu">Sophie Mathieu</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sorbonne Universités, Centre de Référence déficiences intellectuelles de causes rares, département de génétique et embryologie médicale, Hôpital Trousseau, AP-HP, Paris, France." href="#full-view-affiliation-34" ref="linksrc=author_aff">
34
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Afenjar+A&amp;cauthor_id=33874999"
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data-ga-label="Alexandra Afenjar">Alexandra Afenjar</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sorbonne Universités, Centre de Référence déficiences intellectuelles de causes rares, département de génétique et embryologie médicale, Hôpital Trousseau, AP-HP, Paris, France." href="#full-view-affiliation-34" ref="linksrc=author_aff">
34
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Christensen+CK&amp;cauthor_id=33874999"
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data-ga-label="Celenie K Christensen">Celenie K Christensen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA." href="#full-view-affiliation-35" ref="linksrc=author_aff">
35
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=White+KM&amp;cauthor_id=33874999"
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data-ga-label="Kerry M White">Kerry M White</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical and Molecular Genetics, IU Health, Indianapolis, IN, USA." href="#full-view-affiliation-36" ref="linksrc=author_aff">
36
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Elpeleg+O&amp;cauthor_id=33874999"
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data-ga-label="Orly Elpeleg">Orly Elpeleg</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel." href="#full-view-affiliation-37" ref="linksrc=author_aff">
37
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Berger+I&amp;cauthor_id=33874999"
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data-ga-label="Itai Berger">Itai Berger</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Pediatric Neurology, Assuta-Ashdod University Hospital, Ashdod, Israel." href="#full-view-affiliation-38" ref="linksrc=author_aff">
38
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Health Sciences, Ben-Gurion University of the Negev, Beersheba, Israel." href="#full-view-affiliation-39" ref="linksrc=author_aff">
39
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Espineli+EJ&amp;cauthor_id=33874999"
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data-ga-label="Edward J Espineli">Edward J Espineli</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA." href="#full-view-affiliation-23" ref="linksrc=author_aff">
23
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Texas Children&#x27;s Hospital, Houston, TX, USA." href="#full-view-affiliation-24" ref="linksrc=author_aff">
24
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Fagerberg+C&amp;cauthor_id=33874999"
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data-ga-label="Christina Fagerberg">Christina Fagerberg</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Clinical Genetics, Odense University Hospital, Odense, Denmark." href="#full-view-affiliation-40" ref="linksrc=author_aff">
40
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Brasch-Andersen+C&amp;cauthor_id=33874999"
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data-ga-label="Charlotte Brasch-Andersen">Charlotte Brasch-Andersen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Clinical Genetics, Odense University Hospital, Odense, Denmark." href="#full-view-affiliation-40" ref="linksrc=author_aff">
40
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Hansen+LK&amp;cauthor_id=33874999"
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data-ga-label="Lars Kjærsgaard Hansen">Lars Kjærsgaard Hansen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="H C Andersen Chilldrens Hospital, Odense University Hospital, Odense, Denmark." href="#full-view-affiliation-41" ref="linksrc=author_aff">
41
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Feyma+T&amp;cauthor_id=33874999"
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data-ga-label="Timothy Feyma">Timothy Feyma</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Gillette Children&#x27;s Specialty Healthcare, Saint Paul, MN, USA." href="#full-view-affiliation-42" ref="linksrc=author_aff">
42
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Hughes+S&amp;cauthor_id=33874999"
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data-ga-label="Susan Hughes">Susan Hughes</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Clinical Genetics, Children&#x27;s Mercy Kansas City, Kansas City, MO, USA." href="#full-view-affiliation-43" ref="linksrc=author_aff">
43
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA." href="#full-view-affiliation-44" ref="linksrc=author_aff">
44
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Thiffault+I&amp;cauthor_id=33874999"
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data-ga-label="Isabelle Thiffault">Isabelle Thiffault</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA." href="#full-view-affiliation-44" ref="linksrc=author_aff">
44
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Children&#x27;s Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA." href="#full-view-affiliation-45" ref="linksrc=author_aff">
45
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Sullivan+B&amp;cauthor_id=33874999"
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data-ga-label="Bonnie Sullivan">Bonnie Sullivan</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Clinical Genetics, Children&#x27;s Mercy Kansas City, Kansas City, MO, USA." href="#full-view-affiliation-43" ref="linksrc=author_aff">
43
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Yan+S&amp;cauthor_id=33874999"
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data-ga-label="Shuang Yan">Shuang Yan</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Clinical Genetics, Children&#x27;s Mercy Kansas City, Kansas City, MO, USA." href="#full-view-affiliation-43" ref="linksrc=author_aff">
43
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Keller+K&amp;cauthor_id=33874999"
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data-ga-label="Kory Keller">Kory Keller</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Oregon Health &amp; Science University, Corvallis, OR, USA." href="#full-view-affiliation-46" ref="linksrc=author_aff">
46
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Keren+B&amp;cauthor_id=33874999"
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data-ga-label="Boris Keren">Boris Keren</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genetics, Hópital Pitié-Salpêtrière, Paris, France." href="#full-view-affiliation-47" ref="linksrc=author_aff">
47
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mignot+C&amp;cauthor_id=33874999"
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data-ga-label="Cyril Mignot">Cyril Mignot</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genetics, Hópital Pitié-Salpêtrière, Paris, France." href="#full-view-affiliation-47" ref="linksrc=author_aff">
47
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Frank Kooy">Frank Kooy</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University of Antwerp, Antwerp, Belgium." href="#full-view-affiliation-48" ref="linksrc=author_aff">
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48
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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49
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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49
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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49
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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49
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Margaret Drummond-Borg">Margaret Drummond-Borg</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Genetics Department, Cook Children&#x27;s Hospital, Fort Worth, TX, USA." href="#full-view-affiliation-49" ref="linksrc=author_aff">
49
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Mathilde Lauridsen">Mathilde Lauridsen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Clinical Genetics, Odense University Hospital, Odense, Denmark." href="#full-view-affiliation-40" ref="linksrc=author_aff">
40
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Kristina Sorensen">Kristina Sorensen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Clinical Genetics, Odense University Hospital, Odense, Denmark." href="#full-view-affiliation-40" ref="linksrc=author_aff">
40
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Lehman+A&amp;cauthor_id=33874999"
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50
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="BC Children&#x27;s Hospital and BC Women&#x27;s Hospital, Vancouver, BC, Canada." href="#full-view-affiliation-51" ref="linksrc=author_aff">
51
</a></sup><span class="semicolon">;&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="CAUSES Study">CAUSES Study</a><span class="semicolon">;&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Elena Lopez-Rangel">Elena Lopez-Rangel</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, Vancouver, Canada." href="#full-view-affiliation-50" ref="linksrc=author_aff">
50
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Developmental Pediatrics, Department of Pediatrics, BC Children&#x27;s Hospital, University of British Columbia, Vancouver, BC, Canada." href="#full-view-affiliation-52" ref="linksrc=author_aff">
52
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sunny Hill Health Centre for Children, Vancouver, BC, Canada." href="#full-view-affiliation-53" ref="linksrc=author_aff">
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Paul Levy">Paul Levy</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, The Children&#x27;s Hospital at Montefiore, Bronx, NY, USA." href="#full-view-affiliation-54" ref="linksrc=author_aff">
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Lessel+D&amp;cauthor_id=33874999"
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data-ga-label="Davor Lessel">Davor Lessel</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany." href="#full-view-affiliation-55" ref="linksrc=author_aff">
55
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Timothy Lotze">Timothy Lotze</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA." href="#full-view-affiliation-23" ref="linksrc=author_aff">
23
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Suneeta Madan-Khetarpal">Suneeta Madan-Khetarpal</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA." href="#full-view-affiliation-56" ref="linksrc=author_aff">
56
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="UPMC Children&#x27;s Hospital of Pittsburgh, Pittsburgh, PA, USA." href="#full-view-affiliation-57" ref="linksrc=author_aff">
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Jessica Sebastian">Jessica Sebastian</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA." href="#full-view-affiliation-56" ref="linksrc=author_aff">
56
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Vento+J&amp;cauthor_id=33874999"
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data-ga-label="Jodie Vento">Jodie Vento</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA." href="#full-view-affiliation-56" ref="linksrc=author_aff">
56
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Vats+D&amp;cauthor_id=33874999"
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data-ga-label="Divya Vats">Divya Vats</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Kaiser Permanente Southern California, Los Angeles, CA, USA." href="#full-view-affiliation-58" ref="linksrc=author_aff">
58
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Benman+LM&amp;cauthor_id=33874999"
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data-ga-label="L Manace Benman">L Manace Benman</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="The Permanente Medical Group, Oakland, CA, USA." href="#full-view-affiliation-59" ref="linksrc=author_aff">
59
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mckee+S&amp;cauthor_id=33874999"
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data-ga-label="Shane Mckee">Shane Mckee</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK." href="#full-view-affiliation-60" ref="linksrc=author_aff">
60
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mirzaa+GM&amp;cauthor_id=33874999"
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data-ga-label="Ghayda M Mirzaa">Ghayda M Mirzaa</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Integrative Brain Research, Seattle Children&#x27;s Research Institute, Seattle, WA, USA." href="#full-view-affiliation-61" ref="linksrc=author_aff">
61
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, University of Washington, Seattle, WA, USA." href="#full-view-affiliation-62" ref="linksrc=author_aff">
62
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Brotman Baty Institute for Precision Medicine, Seattle, WA, USA." href="#full-view-affiliation-63" ref="linksrc=author_aff">
63
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Muss+C&amp;cauthor_id=33874999"
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data-ga-label="Candace Muss">Candace Muss</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Al Dupont Hospital for Children, Wilmington, DE, USA." href="#full-view-affiliation-64" ref="linksrc=author_aff">
64
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Pappas+J&amp;cauthor_id=33874999"
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data-ga-label="John Pappas">John Pappas</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="NYU Grossman School of Medicine, Department of Pediatrics, Clinical Genetic Services, New York, NY, USA." href="#full-view-affiliation-65" ref="linksrc=author_aff">
65
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Peeters+H&amp;cauthor_id=33874999"
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data-ga-label="Hilde Peeters">Hilde Peeters</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium." href="#full-view-affiliation-66" ref="linksrc=author_aff">
66
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Romano+C&amp;cauthor_id=33874999"
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data-ga-label="Corrado Romano">Corrado Romano</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Oasi Research Institute-IRCCS, Troina, Italy." href="#full-view-affiliation-67" ref="linksrc=author_aff">
67
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Elia+M&amp;cauthor_id=33874999"
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data-ga-label="Maurizio Elia">Maurizio Elia</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Oasi Research Institute-IRCCS, Troina, Italy." href="#full-view-affiliation-67" ref="linksrc=author_aff">
67
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Galesi+O&amp;cauthor_id=33874999"
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data-ga-label="Ornella Galesi">Ornella Galesi</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Oasi Research Institute-IRCCS, Troina, Italy." href="#full-view-affiliation-67" ref="linksrc=author_aff">
67
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Simon+MEH&amp;cauthor_id=33874999"
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data-ga-label="Marleen E H Simon">Marleen E H Simon</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genetics, University Medical Center, Utrecht University, Utrecht, The Netherlands." href="#full-view-affiliation-68" ref="linksrc=author_aff">
68
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=van+Gassen+KLI&amp;cauthor_id=33874999"
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data-ga-label="Koen L I van Gassen">Koen L I van Gassen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genetics, University Medical Center, Utrecht University, Utrecht, The Netherlands." href="#full-view-affiliation-68" ref="linksrc=author_aff">
68
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Simpson+K&amp;cauthor_id=33874999"
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data-ga-label="Kara Simpson">Kara Simpson</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Rare Disease Institute, Children&#x27;s National Health System, Washington, DC, USA." href="#full-view-affiliation-69" ref="linksrc=author_aff">
69
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Stratton+R&amp;cauthor_id=33874999"
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data-ga-label="Robert Stratton">Robert Stratton</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genetics, Driscoll Children&#x27;s Hospital, Corpus Christi, TX, USA." href="#full-view-affiliation-70" ref="linksrc=author_aff">
70
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Syed+S&amp;cauthor_id=33874999"
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data-ga-label="Sabeen Syed">Sabeen Syed</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatric Gastroenterology, Driscoll Children&#x27;s Hospital, Corpus Christi, TX, USA." href="#full-view-affiliation-71" ref="linksrc=author_aff">
71
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Thevenon+J&amp;cauthor_id=33874999"
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data-ga-label="Julien Thevenon">Julien Thevenon</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Àrea de Genètica Clínica i Molecular, Hospital Vall d&#x27;Hebrón, Barcelona, Spain." href="#full-view-affiliation-72" ref="linksrc=author_aff">
72
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Palafoll+IV&amp;cauthor_id=33874999"
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data-ga-label="Irene Valenzuela Palafoll">Irene Valenzuela Palafoll</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de référence Anomalies du développement, CHU Grenoble-Alpes, Grenoble, France." href="#full-view-affiliation-73" ref="linksrc=author_aff">
73
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Vitobello+A&amp;cauthor_id=33874999"
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data-ga-label="Antonio Vitobello">Antonio Vitobello</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="UF Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne and INSERM UMR1231 GAD, Université de Bourgogne Franche-Comté, F-21000, Dijon, France." href="#full-view-affiliation-74" ref="linksrc=author_aff">
74
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France." href="#full-view-affiliation-75" ref="linksrc=author_aff">
75
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bournez+M&amp;cauthor_id=33874999"
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data-ga-label="Marie Bournez">Marie Bournez</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de Référence Maladies Rares « déficience intellectuelle », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France." href="#full-view-affiliation-76" ref="linksrc=author_aff">
76
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs »​ Université Bourgogne Franche-Comté, Dijon, France." href="#full-view-affiliation-77" ref="linksrc=author_aff">
77
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Faivre+L&amp;cauthor_id=33874999"
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data-ga-label="Laurence Faivre">Laurence Faivre</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France." href="#full-view-affiliation-75" ref="linksrc=author_aff">
75
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs »​ Université Bourgogne Franche-Comté, Dijon, France." href="#full-view-affiliation-77" ref="linksrc=author_aff">
77
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Xia+K&amp;cauthor_id=33874999"
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</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA." href="#full-view-affiliation-78" ref="linksrc=author_aff">
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</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA, USA." href="#full-view-affiliation-8" ref="linksrc=author_aff">
8
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Ori Wasserberg">Ori Wasserberg</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Rachubinski+AL"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Angela L Rachubinski">Angela L Rachubinski</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Rosenberg+CR"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Cordelia R Rosenberg">Cordelia R Rosenberg</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kanne+SM"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Stephen M Kanne">Stephen M Kanne</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Shocklee+AD"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Amanda D Shocklee">Amanda D Shocklee</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Takahashi+N"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Nicole Takahashi">Nicole Takahashi</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bridwell+SL"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Shelby L Bridwell">Shelby L Bridwell</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Klimczac+RL"
ref="linksrc=author_name_link"
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data-ga-label="Rebecca L Klimczac">Rebecca L Klimczac</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mahurin+MA"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Melissa A Mahurin">Melissa A Mahurin</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Cotrell+HE"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Hannah E Cotrell">Hannah E Cotrell</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Grant+CA"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Cortaiga A Grant">Cortaiga A Grant</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Hunter+SG"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="Samantha G Hunter">Samantha G Hunter</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Martin+CL"
ref="linksrc=author_name_link"
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data-ga-label="Christa Lese Martin">Christa Lese Martin</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Taylor+CM"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Cora M Taylor">Cora M Taylor</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Walsh+LK"
ref="linksrc=author_name_link"
data-ga-category="search"
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data-ga-label="Lauren K Walsh">Lauren K Walsh</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Dent+KA"
ref="linksrc=author_name_link"
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data-ga-label="Katherine A Dent">Katherine A Dent</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mason+A"
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data-ga-label="Andrew Mason">Andrew Mason</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Sziklay+A"
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data-ga-label="Anthony Sziklay">Anthony Sziklay</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Smith+CJ"
ref="linksrc=author_name_link"
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data-ga-label="Christopher J Smith">Christopher J Smith</a></span>
</div>
</li>
</ul>
</div>
<div class="affiliations">
<h3 class="title">
Affiliations
</h3>
<ul class="item-list">
<li data-affiliation-id="full-view-affiliation-1"
id="full-view-affiliation-1"
><sup class="key">1</sup> Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.</li>
<li data-affiliation-id="full-view-affiliation-2"
id="full-view-affiliation-2"
><sup class="key">2</sup> Baylor Genetics Laboratories, Houston, TX, USA.</li>
<li data-affiliation-id="full-view-affiliation-3"
id="full-view-affiliation-3"
><sup class="key">3</sup> Department of Molecular &amp; Human Genetics, Baylor College of Medicine, Houston, TX, USA.</li>
<li data-affiliation-id="full-view-affiliation-4"
id="full-view-affiliation-4"
><sup class="key">4</sup> Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.</li>
<li data-affiliation-id="full-view-affiliation-5"
id="full-view-affiliation-5"
><sup class="key">5</sup> Department of Anatomy, University of California, San Francisco, CA, USA.</li>
<li data-affiliation-id="full-view-affiliation-6"
id="full-view-affiliation-6"
><sup class="key">6</sup> Department of Psychiatry, University of California, San Francisco, CA, USA.</li>
<li data-affiliation-id="full-view-affiliation-7"
id="full-view-affiliation-7"
><sup class="key">7</sup> Weill Institute for Neurosciences, University of California at San Francisco, San Francisco, CA, USA.</li>
<li data-affiliation-id="full-view-affiliation-8"
id="full-view-affiliation-8"
><sup class="key">8</sup> The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA, USA.</li>
<li data-affiliation-id="full-view-affiliation-9"
id="full-view-affiliation-9"
><sup class="key">9</sup> Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.</li>
<li data-affiliation-id="full-view-affiliation-10"
id="full-view-affiliation-10"
><sup class="key">10</sup> Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.</li>
<li data-affiliation-id="full-view-affiliation-11"
id="full-view-affiliation-11"
><sup class="key">11</sup> Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.</li>
<li data-affiliation-id="full-view-affiliation-12"
id="full-view-affiliation-12"
><sup class="key">12</sup> School of Medicine and the Robinson Research Institute, the University of Adelaide at the Women&#x27;s and Children&#x27;s Hospital, Adelaide, South Australia, Australia.</li>
<li data-affiliation-id="full-view-affiliation-13"
id="full-view-affiliation-13"
><sup class="key">13</sup> Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.</li>
<li data-affiliation-id="full-view-affiliation-14"
id="full-view-affiliation-14"
><sup class="key">14</sup> South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.</li>
<li data-affiliation-id="full-view-affiliation-15"
id="full-view-affiliation-15"
><sup class="key">15</sup> Laboratorio di Genetica Medica - ASST Papa Giovanni XXIII, Bergamo, Italy.</li>
<li data-affiliation-id="full-view-affiliation-16"
id="full-view-affiliation-16"
><sup class="key">16</sup> Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.</li>
<li data-affiliation-id="full-view-affiliation-17"
id="full-view-affiliation-17"
><sup class="key">17</sup> Genetic Unit, Department of Pediatrics, Fondazione MBBM S. Gerardo Hospital, Monza, Italy.</li>
<li data-affiliation-id="full-view-affiliation-18"
id="full-view-affiliation-18"
><sup class="key">18</sup> Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children&#x27;s Hospital, IRCCS, 00146, Rome, Italy.</li>
<li data-affiliation-id="full-view-affiliation-19"
id="full-view-affiliation-19"
><sup class="key">19</sup> Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.</li>
<li data-affiliation-id="full-view-affiliation-20"
id="full-view-affiliation-20"
><sup class="key">20</sup> Center on Human Development and Disability, University of Washington, Seattle, WA, USA.</li>
<li data-affiliation-id="full-view-affiliation-21"
id="full-view-affiliation-21"
><sup class="key">21</sup> Seattle Children&#x27;s Autism Center, Seattle, WA, USA.</li>
<li data-affiliation-id="full-view-affiliation-22"
id="full-view-affiliation-22"
><sup class="key">22</sup> GeneDX, Gaithersburg, MD, USA.</li>
<li data-affiliation-id="full-view-affiliation-23"
id="full-view-affiliation-23"
><sup class="key">23</sup> Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.</li>
<li data-affiliation-id="full-view-affiliation-24"
id="full-view-affiliation-24"
><sup class="key">24</sup> Texas Children&#x27;s Hospital, Houston, TX, USA.</li>
<li data-affiliation-id="full-view-affiliation-25"
id="full-view-affiliation-25"
><sup class="key">25</sup> Department of Neurology, Boston Children&#x27;s Hospital, Harvard Medical School, Boston, MA, USA.</li>
<li data-affiliation-id="full-view-affiliation-26"
id="full-view-affiliation-26"
><sup class="key">26</sup> The Atwal Clinic: Genomic &amp; Personalized Medicine, Jacksonville, FL, USA.</li>
<li data-affiliation-id="full-view-affiliation-27"
id="full-view-affiliation-27"
><sup class="key">27</sup> Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA.</li>
<li data-affiliation-id="full-view-affiliation-28"
id="full-view-affiliation-28"
><sup class="key">28</sup> Department of Pediatrics, University of California San Diego, San Diego, CA, USA.</li>
<li data-affiliation-id="full-view-affiliation-29"
id="full-view-affiliation-29"
><sup class="key">29</sup> Genetics/Dysmorphology, Rady Children&#x27;s Hospital San Diego, San Diego, CA, USA.</li>
<li data-affiliation-id="full-view-affiliation-30"
id="full-view-affiliation-30"
><sup class="key">30</sup> Rady Children&#x27;s Institute for Genomic Medicine, San Diego, CA, USA.</li>
<li data-affiliation-id="full-view-affiliation-31"
id="full-view-affiliation-31"
><sup class="key">31</sup> Department of Neurosciences, University of California San Diego, San Diego, CA, USA.</li>
<li data-affiliation-id="full-view-affiliation-32"
id="full-view-affiliation-32"
><sup class="key">32</sup> Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.</li>
<li data-affiliation-id="full-view-affiliation-33"
id="full-view-affiliation-33"
><sup class="key">33</sup> Clinique de Génétique, Hôpital Jeanne de Flandre, Bâtiment Modulaire, CHU, 59037, Lille Cedex, France.</li>
<li data-affiliation-id="full-view-affiliation-34"
id="full-view-affiliation-34"
><sup class="key">34</sup> Sorbonne Universités, Centre de Référence déficiences intellectuelles de causes rares, département de génétique et embryologie médicale, Hôpital Trousseau, AP-HP, Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-35"
id="full-view-affiliation-35"
><sup class="key">35</sup> Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.</li>
<li data-affiliation-id="full-view-affiliation-36"
id="full-view-affiliation-36"
><sup class="key">36</sup> Department of Medical and Molecular Genetics, IU Health, Indianapolis, IN, USA.</li>
<li data-affiliation-id="full-view-affiliation-37"
id="full-view-affiliation-37"
><sup class="key">37</sup> Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.</li>
<li data-affiliation-id="full-view-affiliation-38"
id="full-view-affiliation-38"
><sup class="key">38</sup> Pediatric Neurology, Assuta-Ashdod University Hospital, Ashdod, Israel.</li>
<li data-affiliation-id="full-view-affiliation-39"
id="full-view-affiliation-39"
><sup class="key">39</sup> Health Sciences, Ben-Gurion University of the Negev, Beersheba, Israel.</li>
<li data-affiliation-id="full-view-affiliation-40"
id="full-view-affiliation-40"
><sup class="key">40</sup> Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.</li>
<li data-affiliation-id="full-view-affiliation-41"
id="full-view-affiliation-41"
><sup class="key">41</sup> H C Andersen Chilldrens Hospital, Odense University Hospital, Odense, Denmark.</li>
<li data-affiliation-id="full-view-affiliation-42"
id="full-view-affiliation-42"
><sup class="key">42</sup> Gillette Children&#x27;s Specialty Healthcare, Saint Paul, MN, USA.</li>
<li data-affiliation-id="full-view-affiliation-43"
id="full-view-affiliation-43"
><sup class="key">43</sup> Division of Clinical Genetics, Children&#x27;s Mercy Kansas City, Kansas City, MO, USA.</li>
<li data-affiliation-id="full-view-affiliation-44"
id="full-view-affiliation-44"
><sup class="key">44</sup> The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.</li>
<li data-affiliation-id="full-view-affiliation-45"
id="full-view-affiliation-45"
><sup class="key">45</sup> Children&#x27;s Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA.</li>
<li data-affiliation-id="full-view-affiliation-46"
id="full-view-affiliation-46"
><sup class="key">46</sup> Oregon Health &amp; Science University, Corvallis, OR, USA.</li>
<li data-affiliation-id="full-view-affiliation-47"
id="full-view-affiliation-47"
><sup class="key">47</sup> Department of Genetics, Hópital Pitié-Salpêtrière, Paris, France.</li>
<li data-affiliation-id="full-view-affiliation-48"
id="full-view-affiliation-48"
><sup class="key">48</sup> Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.</li>
<li data-affiliation-id="full-view-affiliation-49"
id="full-view-affiliation-49"
><sup class="key">49</sup> Genetics Department, Cook Children&#x27;s Hospital, Fort Worth, TX, USA.</li>
<li data-affiliation-id="full-view-affiliation-50"
id="full-view-affiliation-50"
><sup class="key">50</sup> Department of Medical Genetics, University of British Columbia, Vancouver, Canada.</li>
<li data-affiliation-id="full-view-affiliation-51"
id="full-view-affiliation-51"
><sup class="key">51</sup> BC Children&#x27;s Hospital and BC Women&#x27;s Hospital, Vancouver, BC, Canada.</li>
<li data-affiliation-id="full-view-affiliation-52"
id="full-view-affiliation-52"
><sup class="key">52</sup> Division of Developmental Pediatrics, Department of Pediatrics, BC Children&#x27;s Hospital, University of British Columbia, Vancouver, BC, Canada.</li>
<li data-affiliation-id="full-view-affiliation-53"
id="full-view-affiliation-53"
><sup class="key">53</sup> Sunny Hill Health Centre for Children, Vancouver, BC, Canada.</li>
<li data-affiliation-id="full-view-affiliation-54"
id="full-view-affiliation-54"
><sup class="key">54</sup> Department of Pediatrics, The Children&#x27;s Hospital at Montefiore, Bronx, NY, USA.</li>
<li data-affiliation-id="full-view-affiliation-55"
id="full-view-affiliation-55"
><sup class="key">55</sup> Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.</li>
<li data-affiliation-id="full-view-affiliation-56"
id="full-view-affiliation-56"
><sup class="key">56</sup> Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.</li>
<li data-affiliation-id="full-view-affiliation-57"
id="full-view-affiliation-57"
><sup class="key">57</sup> UPMC Children&#x27;s Hospital of Pittsburgh, Pittsburgh, PA, USA.</li>
<li data-affiliation-id="full-view-affiliation-58"
id="full-view-affiliation-58"
><sup class="key">58</sup> Kaiser Permanente Southern California, Los Angeles, CA, USA.</li>
<li data-affiliation-id="full-view-affiliation-59"
id="full-view-affiliation-59"
><sup class="key">59</sup> The Permanente Medical Group, Oakland, CA, USA.</li>
<li data-affiliation-id="full-view-affiliation-60"
id="full-view-affiliation-60"
><sup class="key">60</sup> Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.</li>
<li data-affiliation-id="full-view-affiliation-61"
id="full-view-affiliation-61"
><sup class="key">61</sup> Center for Integrative Brain Research, Seattle Children&#x27;s Research Institute, Seattle, WA, USA.</li>
<li data-affiliation-id="full-view-affiliation-62"
id="full-view-affiliation-62"
><sup class="key">62</sup> Department of Pediatrics, University of Washington, Seattle, WA, USA.</li>
<li data-affiliation-id="full-view-affiliation-63"
id="full-view-affiliation-63"
><sup class="key">63</sup> Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.</li>
<li data-affiliation-id="full-view-affiliation-64"
id="full-view-affiliation-64"
><sup class="key">64</sup> Al Dupont Hospital for Children, Wilmington, DE, USA.</li>
<li data-affiliation-id="full-view-affiliation-65"
id="full-view-affiliation-65"
><sup class="key">65</sup> NYU Grossman School of Medicine, Department of Pediatrics, Clinical Genetic Services, New York, NY, USA.</li>
<li data-affiliation-id="full-view-affiliation-66"
id="full-view-affiliation-66"
><sup class="key">66</sup> Center for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium.</li>
<li data-affiliation-id="full-view-affiliation-67"
id="full-view-affiliation-67"
><sup class="key">67</sup> Oasi Research Institute-IRCCS, Troina, Italy.</li>
<li data-affiliation-id="full-view-affiliation-68"
id="full-view-affiliation-68"
><sup class="key">68</sup> Department of Genetics, University Medical Center, Utrecht University, Utrecht, The Netherlands.</li>
<li data-affiliation-id="full-view-affiliation-69"
id="full-view-affiliation-69"
><sup class="key">69</sup> Rare Disease Institute, Children&#x27;s National Health System, Washington, DC, USA.</li>
<li data-affiliation-id="full-view-affiliation-70"
id="full-view-affiliation-70"
><sup class="key">70</sup> Department of Genetics, Driscoll Children&#x27;s Hospital, Corpus Christi, TX, USA.</li>
<li data-affiliation-id="full-view-affiliation-71"
id="full-view-affiliation-71"
><sup class="key">71</sup> Department of Pediatric Gastroenterology, Driscoll Children&#x27;s Hospital, Corpus Christi, TX, USA.</li>
<li data-affiliation-id="full-view-affiliation-72"
id="full-view-affiliation-72"
><sup class="key">72</sup> Àrea de Genètica Clínica i Molecular, Hospital Vall d&#x27;Hebrón, Barcelona, Spain.</li>
<li data-affiliation-id="full-view-affiliation-73"
id="full-view-affiliation-73"
><sup class="key">73</sup> Centre de référence Anomalies du développement, CHU Grenoble-Alpes, Grenoble, France.</li>
<li data-affiliation-id="full-view-affiliation-74"
id="full-view-affiliation-74"
><sup class="key">74</sup> UF Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne and INSERM UMR1231 GAD, Université de Bourgogne Franche-Comté, F-21000, Dijon, France.</li>
<li data-affiliation-id="full-view-affiliation-75"
id="full-view-affiliation-75"
><sup class="key">75</sup> INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.</li>
<li data-affiliation-id="full-view-affiliation-76"
id="full-view-affiliation-76"
><sup class="key">76</sup> Centre de Référence Maladies Rares « déficience intellectuelle », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.</li>
<li data-affiliation-id="full-view-affiliation-77"
id="full-view-affiliation-77"
><sup class="key">77</sup> Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs »​ Université Bourgogne Franche-Comté, Dijon, France.</li>
<li data-affiliation-id="full-view-affiliation-78"
id="full-view-affiliation-78"
><sup class="key">78</sup> Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.</li>
<li data-affiliation-id="full-view-affiliation-79"
id="full-view-affiliation-79"
><sup class="key">79</sup> Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA. eee@gs.washington.edu.</li>
<li data-affiliation-id="full-view-affiliation-80"
id="full-view-affiliation-80"
><sup class="key">80</sup> Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. eee@gs.washington.edu.</li>
</ul>
</div>
</div>
</div>
<ul class="identifiers" id="full-view-identifiers">
<li>
<span class="identifier pubmed">
<span class="id-label">
PMID:
</span>
<strong class="current-id" title="PubMed ID">33874999</strong>
</span>
</li>
<li>
<span class="identifier pmc">
<span class="id-label">
PMCID:
</span>
<a class="id-link"
target="_blank"
rel="noopener"
ref="linksrc=article_id_link&amp;article_id=PMC8056596&amp;id_type=PMC"
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC8056596/"
data-ga-category="full_text"
data-ga-action="PMCID"
>
PMC8056596
</a>
</span>
</li>
<li>
<span class="identifier doi">
<span class="id-label">
DOI:
</span>
<a class="id-link"
target="_blank"
rel="noopener"
ref="linksrc=article_id_link&amp;article_id=10.1186/s13073-021-00870-6&amp;id_type=DOI"
href="https://doi.org/10.1186/s13073-021-00870-6"
data-ga-category="full_text"
data-ga-action="DOI"
>
10.1186/s13073-021-00870-6
</a>
</span>
</li>
</ul>
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Item in Clipboard
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</div>
<div class="short-view" id="short-view-heading">
<h1 class="heading-title">
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
</h1>
<div class="short-citation">
<span class="authors-list">
<span class="authors-list-item "><span class="full-name">Madelyn A Gillentine</span><span class="citation-separator">&nbsp;et al.</span></span>
</span>
<span class="citation-journal">
Genome Med<span class="citation-separator">.</span>
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data-ga-label="Carlos A Bacino">Carlos A Bacino</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Molecular &amp; Human Genetics, Baylor College of Medicine, Houston, TX, USA." href="#short-view-affiliation-3" ref="linksrc=author_aff">
3
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bhat+G&amp;cauthor_id=33874999"
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data-ga-label="Gifty Bhat">Gifty Bhat</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA." href="#short-view-affiliation-27" ref="linksrc=author_aff">
27
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Cobian+K&amp;cauthor_id=33874999"
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data-ga-label="Katherine Cobian">Katherine Cobian</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA." href="#short-view-affiliation-27" ref="linksrc=author_aff">
27
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bird+LM&amp;cauthor_id=33874999"
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data-ga-label="Lynne M Bird">Lynne M Bird</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, University of California San Diego, San Diego, CA, USA." href="#short-view-affiliation-28" ref="linksrc=author_aff">
28
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Genetics/Dysmorphology, Rady Children&#x27;s Hospital San Diego, San Diego, CA, USA." href="#short-view-affiliation-29" ref="linksrc=author_aff">
29
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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28
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Rady Children&#x27;s Institute for Genomic Medicine, San Diego, CA, USA." href="#short-view-affiliation-30" ref="linksrc=author_aff">
30
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Neurosciences, University of California San Diego, San Diego, CA, USA." href="#short-view-affiliation-31" ref="linksrc=author_aff">
31
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Wright+MS&amp;cauthor_id=33874999"
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data-ga-label="Meredith S Wright">Meredith S Wright</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, University of California San Diego, San Diego, CA, USA." href="#short-view-affiliation-28" ref="linksrc=author_aff">
28
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Rady Children&#x27;s Institute for Genomic Medicine, San Diego, CA, USA." href="#short-view-affiliation-30" ref="linksrc=author_aff">
30
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Callewaert+B&amp;cauthor_id=33874999"
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data-ga-label="Bert Callewaert">Bert Callewaert</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium." href="#short-view-affiliation-32" ref="linksrc=author_aff">
32
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Florence Petit">Florence Petit</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Clinique de Génétique, Hôpital Jeanne de Flandre, Bâtiment Modulaire, CHU, 59037, Lille Cedex, France." href="#short-view-affiliation-33" ref="linksrc=author_aff">
33
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Sophie Mathieu">Sophie Mathieu</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sorbonne Universités, Centre de Référence déficiences intellectuelles de causes rares, département de génétique et embryologie médicale, Hôpital Trousseau, AP-HP, Paris, France." href="#short-view-affiliation-34" ref="linksrc=author_aff">
34
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Afenjar+A&amp;cauthor_id=33874999"
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data-ga-label="Alexandra Afenjar">Alexandra Afenjar</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sorbonne Universités, Centre de Référence déficiences intellectuelles de causes rares, département de génétique et embryologie médicale, Hôpital Trousseau, AP-HP, Paris, France." href="#short-view-affiliation-34" ref="linksrc=author_aff">
34
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Christensen+CK&amp;cauthor_id=33874999"
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data-ga-label="Celenie K Christensen">Celenie K Christensen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA." href="#short-view-affiliation-35" ref="linksrc=author_aff">
35
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Kerry M White">Kerry M White</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical and Molecular Genetics, IU Health, Indianapolis, IN, USA." href="#short-view-affiliation-36" ref="linksrc=author_aff">
36
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Elpeleg+O&amp;cauthor_id=33874999"
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data-ga-label="Orly Elpeleg">Orly Elpeleg</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel." href="#short-view-affiliation-37" ref="linksrc=author_aff">
37
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Berger+I&amp;cauthor_id=33874999"
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data-ga-label="Itai Berger">Itai Berger</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Pediatric Neurology, Assuta-Ashdod University Hospital, Ashdod, Israel." href="#short-view-affiliation-38" ref="linksrc=author_aff">
38
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Health Sciences, Ben-Gurion University of the Negev, Beersheba, Israel." href="#short-view-affiliation-39" ref="linksrc=author_aff">
39
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Edward J Espineli">Edward J Espineli</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA." href="#short-view-affiliation-23" ref="linksrc=author_aff">
23
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Texas Children&#x27;s Hospital, Houston, TX, USA." href="#short-view-affiliation-24" ref="linksrc=author_aff">
24
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Fagerberg+C&amp;cauthor_id=33874999"
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data-ga-label="Christina Fagerberg">Christina Fagerberg</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Clinical Genetics, Odense University Hospital, Odense, Denmark." href="#short-view-affiliation-40" ref="linksrc=author_aff">
40
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Brasch-Andersen+C&amp;cauthor_id=33874999"
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data-ga-label="Charlotte Brasch-Andersen">Charlotte Brasch-Andersen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Clinical Genetics, Odense University Hospital, Odense, Denmark." href="#short-view-affiliation-40" ref="linksrc=author_aff">
40
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Hansen+LK&amp;cauthor_id=33874999"
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data-ga-label="Lars Kjærsgaard Hansen">Lars Kjærsgaard Hansen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="H C Andersen Chilldrens Hospital, Odense University Hospital, Odense, Denmark." href="#short-view-affiliation-41" ref="linksrc=author_aff">
41
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Feyma+T&amp;cauthor_id=33874999"
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data-ga-label="Timothy Feyma">Timothy Feyma</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Gillette Children&#x27;s Specialty Healthcare, Saint Paul, MN, USA." href="#short-view-affiliation-42" ref="linksrc=author_aff">
42
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Hughes+S&amp;cauthor_id=33874999"
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data-ga-label="Susan Hughes">Susan Hughes</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Clinical Genetics, Children&#x27;s Mercy Kansas City, Kansas City, MO, USA." href="#short-view-affiliation-43" ref="linksrc=author_aff">
43
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA." href="#short-view-affiliation-44" ref="linksrc=author_aff">
44
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Thiffault+I&amp;cauthor_id=33874999"
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data-ga-label="Isabelle Thiffault">Isabelle Thiffault</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA." href="#short-view-affiliation-44" ref="linksrc=author_aff">
44
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Children&#x27;s Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA." href="#short-view-affiliation-45" ref="linksrc=author_aff">
45
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Sullivan+B&amp;cauthor_id=33874999"
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data-ga-label="Bonnie Sullivan">Bonnie Sullivan</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Clinical Genetics, Children&#x27;s Mercy Kansas City, Kansas City, MO, USA." href="#short-view-affiliation-43" ref="linksrc=author_aff">
43
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Yan+S&amp;cauthor_id=33874999"
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data-ga-label="Shuang Yan">Shuang Yan</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Clinical Genetics, Children&#x27;s Mercy Kansas City, Kansas City, MO, USA." href="#short-view-affiliation-43" ref="linksrc=author_aff">
43
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Keller+K&amp;cauthor_id=33874999"
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data-ga-label="Kory Keller">Kory Keller</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Oregon Health &amp; Science University, Corvallis, OR, USA." href="#short-view-affiliation-46" ref="linksrc=author_aff">
46
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Keren+B&amp;cauthor_id=33874999"
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data-ga-label="Boris Keren">Boris Keren</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genetics, Hópital Pitié-Salpêtrière, Paris, France." href="#short-view-affiliation-47" ref="linksrc=author_aff">
47
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mignot+C&amp;cauthor_id=33874999"
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data-ga-label="Cyril Mignot">Cyril Mignot</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genetics, Hópital Pitié-Salpêtrière, Paris, France." href="#short-view-affiliation-47" ref="linksrc=author_aff">
47
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kooy+F&amp;cauthor_id=33874999"
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data-ga-label="Frank Kooy">Frank Kooy</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University of Antwerp, Antwerp, Belgium." href="#short-view-affiliation-48" ref="linksrc=author_aff">
48
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Meuwissen+M&amp;cauthor_id=33874999"
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data-ga-label="Marije Meuwissen">Marije Meuwissen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University of Antwerp, Antwerp, Belgium." href="#short-view-affiliation-48" ref="linksrc=author_aff">
48
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Basinger+A&amp;cauthor_id=33874999"
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data-ga-label="Alice Basinger">Alice Basinger</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Genetics Department, Cook Children&#x27;s Hospital, Fort Worth, TX, USA." href="#short-view-affiliation-49" ref="linksrc=author_aff">
49
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kukolich+M&amp;cauthor_id=33874999"
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data-ga-label="Mary Kukolich">Mary Kukolich</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Genetics Department, Cook Children&#x27;s Hospital, Fort Worth, TX, USA." href="#short-view-affiliation-49" ref="linksrc=author_aff">
49
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Philips+M&amp;cauthor_id=33874999"
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data-ga-label="Meredith Philips">Meredith Philips</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Genetics Department, Cook Children&#x27;s Hospital, Fort Worth, TX, USA." href="#short-view-affiliation-49" ref="linksrc=author_aff">
49
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Ortega+L&amp;cauthor_id=33874999"
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data-ga-label="Lucia Ortega">Lucia Ortega</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Genetics Department, Cook Children&#x27;s Hospital, Fort Worth, TX, USA." href="#short-view-affiliation-49" ref="linksrc=author_aff">
49
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Drummond-Borg+M&amp;cauthor_id=33874999"
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data-ga-label="Margaret Drummond-Borg">Margaret Drummond-Borg</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Genetics Department, Cook Children&#x27;s Hospital, Fort Worth, TX, USA." href="#short-view-affiliation-49" ref="linksrc=author_aff">
49
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Lauridsen+M&amp;cauthor_id=33874999"
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data-ga-label="Mathilde Lauridsen">Mathilde Lauridsen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Clinical Genetics, Odense University Hospital, Odense, Denmark." href="#short-view-affiliation-40" ref="linksrc=author_aff">
40
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Sorensen+K&amp;cauthor_id=33874999"
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data-ga-label="Kristina Sorensen">Kristina Sorensen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Clinical Genetics, Odense University Hospital, Odense, Denmark." href="#short-view-affiliation-40" ref="linksrc=author_aff">
40
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Lehman+A&amp;cauthor_id=33874999"
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data-ga-label="Anna Lehman">Anna Lehman</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, Vancouver, Canada." href="#short-view-affiliation-50" ref="linksrc=author_aff">
50
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="BC Children&#x27;s Hospital and BC Women&#x27;s Hospital, Vancouver, BC, Canada." href="#short-view-affiliation-51" ref="linksrc=author_aff">
51
</a></sup><span class="semicolon">;&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="CAUSES Study">CAUSES Study</a><span class="semicolon">;&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Lopez-Rangel+E&amp;cauthor_id=33874999"
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data-ga-label="Elena Lopez-Rangel">Elena Lopez-Rangel</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, Vancouver, Canada." href="#short-view-affiliation-50" ref="linksrc=author_aff">
50
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Division of Developmental Pediatrics, Department of Pediatrics, BC Children&#x27;s Hospital, University of British Columbia, Vancouver, BC, Canada." href="#short-view-affiliation-52" ref="linksrc=author_aff">
52
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Sunny Hill Health Centre for Children, Vancouver, BC, Canada." href="#short-view-affiliation-53" ref="linksrc=author_aff">
53
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Levy+P&amp;cauthor_id=33874999"
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54
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55
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Timothy Lotze">Timothy Lotze</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA." href="#short-view-affiliation-23" ref="linksrc=author_aff">
23
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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56
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="UPMC Children&#x27;s Hospital of Pittsburgh, Pittsburgh, PA, USA." href="#short-view-affiliation-57" ref="linksrc=author_aff">
57
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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56
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Jodie Vento">Jodie Vento</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA." href="#short-view-affiliation-56" ref="linksrc=author_aff">
56
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Vats+D&amp;cauthor_id=33874999"
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data-ga-label="Divya Vats">Divya Vats</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Kaiser Permanente Southern California, Los Angeles, CA, USA." href="#short-view-affiliation-58" ref="linksrc=author_aff">
58
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Benman+LM&amp;cauthor_id=33874999"
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data-ga-label="L Manace Benman">L Manace Benman</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="The Permanente Medical Group, Oakland, CA, USA." href="#short-view-affiliation-59" ref="linksrc=author_aff">
59
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mckee+S&amp;cauthor_id=33874999"
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data-ga-label="Shane Mckee">Shane Mckee</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK." href="#short-view-affiliation-60" ref="linksrc=author_aff">
60
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mirzaa+GM&amp;cauthor_id=33874999"
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data-ga-label="Ghayda M Mirzaa">Ghayda M Mirzaa</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Integrative Brain Research, Seattle Children&#x27;s Research Institute, Seattle, WA, USA." href="#short-view-affiliation-61" ref="linksrc=author_aff">
61
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatrics, University of Washington, Seattle, WA, USA." href="#short-view-affiliation-62" ref="linksrc=author_aff">
62
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Brotman Baty Institute for Precision Medicine, Seattle, WA, USA." href="#short-view-affiliation-63" ref="linksrc=author_aff">
63
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Muss+C&amp;cauthor_id=33874999"
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data-ga-label="Candace Muss">Candace Muss</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Al Dupont Hospital for Children, Wilmington, DE, USA." href="#short-view-affiliation-64" ref="linksrc=author_aff">
64
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Pappas+J&amp;cauthor_id=33874999"
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data-ga-label="John Pappas">John Pappas</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="NYU Grossman School of Medicine, Department of Pediatrics, Clinical Genetic Services, New York, NY, USA." href="#short-view-affiliation-65" ref="linksrc=author_aff">
65
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Hilde Peeters">Hilde Peeters</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium." href="#short-view-affiliation-66" ref="linksrc=author_aff">
66
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Romano+C&amp;cauthor_id=33874999"
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data-ga-label="Corrado Romano">Corrado Romano</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Oasi Research Institute-IRCCS, Troina, Italy." href="#short-view-affiliation-67" ref="linksrc=author_aff">
67
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Maurizio Elia">Maurizio Elia</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Oasi Research Institute-IRCCS, Troina, Italy." href="#short-view-affiliation-67" ref="linksrc=author_aff">
67
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Ornella Galesi">Ornella Galesi</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Oasi Research Institute-IRCCS, Troina, Italy." href="#short-view-affiliation-67" ref="linksrc=author_aff">
67
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Simon+MEH&amp;cauthor_id=33874999"
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data-ga-label="Marleen E H Simon">Marleen E H Simon</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genetics, University Medical Center, Utrecht University, Utrecht, The Netherlands." href="#short-view-affiliation-68" ref="linksrc=author_aff">
68
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=van+Gassen+KLI&amp;cauthor_id=33874999"
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data-ga-label="Koen L I van Gassen">Koen L I van Gassen</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genetics, University Medical Center, Utrecht University, Utrecht, The Netherlands." href="#short-view-affiliation-68" ref="linksrc=author_aff">
68
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Kara Simpson">Kara Simpson</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Rare Disease Institute, Children&#x27;s National Health System, Washington, DC, USA." href="#short-view-affiliation-69" ref="linksrc=author_aff">
69
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Stratton+R&amp;cauthor_id=33874999"
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data-ga-label="Robert Stratton">Robert Stratton</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genetics, Driscoll Children&#x27;s Hospital, Corpus Christi, TX, USA." href="#short-view-affiliation-70" ref="linksrc=author_aff">
70
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Syed+S&amp;cauthor_id=33874999"
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data-ga-label="Sabeen Syed">Sabeen Syed</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Pediatric Gastroenterology, Driscoll Children&#x27;s Hospital, Corpus Christi, TX, USA." href="#short-view-affiliation-71" ref="linksrc=author_aff">
71
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Thevenon+J&amp;cauthor_id=33874999"
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data-ga-label="Julien Thevenon">Julien Thevenon</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Àrea de Genètica Clínica i Molecular, Hospital Vall d&#x27;Hebrón, Barcelona, Spain." href="#short-view-affiliation-72" ref="linksrc=author_aff">
72
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Palafoll+IV&amp;cauthor_id=33874999"
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data-ga-label="Irene Valenzuela Palafoll">Irene Valenzuela Palafoll</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de référence Anomalies du développement, CHU Grenoble-Alpes, Grenoble, France." href="#short-view-affiliation-73" ref="linksrc=author_aff">
73
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Vitobello+A&amp;cauthor_id=33874999"
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data-ga-label="Antonio Vitobello">Antonio Vitobello</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="UF Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne and INSERM UMR1231 GAD, Université de Bourgogne Franche-Comté, F-21000, Dijon, France." href="#short-view-affiliation-74" ref="linksrc=author_aff">
74
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France." href="#short-view-affiliation-75" ref="linksrc=author_aff">
75
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bournez+M&amp;cauthor_id=33874999"
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data-ga-label="Marie Bournez">Marie Bournez</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de Référence Maladies Rares « déficience intellectuelle », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France." href="#short-view-affiliation-76" ref="linksrc=author_aff">
76
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs »​ Université Bourgogne Franche-Comté, Dijon, France." href="#short-view-affiliation-77" ref="linksrc=author_aff">
77
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Faivre+L&amp;cauthor_id=33874999"
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data-ga-label="Laurence Faivre">Laurence Faivre</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France." href="#short-view-affiliation-75" ref="linksrc=author_aff">
75
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs »​ Université Bourgogne Franche-Comté, Dijon, France." href="#short-view-affiliation-77" ref="linksrc=author_aff">
77
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Xia+K&amp;cauthor_id=33874999"
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data-ga-label="Kun Xia">Kun Xia</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China." href="#short-view-affiliation-4" ref="linksrc=author_aff">
4
</a></sup><span class="semicolon">;&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=SPARK+Consortium%5BCorporate+Author%5D"
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data-ga-label="SPARK Consortium">SPARK Consortium</a><span class="semicolon">;&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Earl+RK&amp;cauthor_id=33874999"
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data-ga-label="Rachel K Earl">Rachel K Earl</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center on Human Development and Disability, University of Washington, Seattle, WA, USA." href="#short-view-affiliation-20" ref="linksrc=author_aff">
20
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Seattle Children&#x27;s Autism Center, Seattle, WA, USA." href="#short-view-affiliation-21" ref="linksrc=author_aff">
21
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA." href="#short-view-affiliation-78" ref="linksrc=author_aff">
78
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Nowakowski+T&amp;cauthor_id=33874999"
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data-ga-label="Tomasz Nowakowski">Tomasz Nowakowski</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Anatomy, University of California, San Francisco, CA, USA." href="#short-view-affiliation-5" ref="linksrc=author_aff">
5
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Psychiatry, University of California, San Francisco, CA, USA." href="#short-view-affiliation-6" ref="linksrc=author_aff">
6
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Weill Institute for Neurosciences, University of California at San Francisco, San Francisco, CA, USA." href="#short-view-affiliation-7" ref="linksrc=author_aff">
7
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA, USA." href="#short-view-affiliation-8" ref="linksrc=author_aff">
8
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bernier+RA&amp;cauthor_id=33874999"
ref="linksrc=author_name_link"
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data-ga-label="Raphael A Bernier">Raphael A Bernier</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Center on Human Development and Disability, University of Washington, Seattle, WA, USA." href="#short-view-affiliation-20" ref="linksrc=author_aff">
20
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Seattle Children&#x27;s Autism Center, Seattle, WA, USA." href="#short-view-affiliation-21" ref="linksrc=author_aff">
21
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA." href="#short-view-affiliation-78" ref="linksrc=author_aff">
78
</a></sup><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Eichler+EE&amp;cauthor_id=33874999"
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data-ga-label="Evan E Eichler">Evan E Eichler</a><sup class="affiliation-links"><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA. eee@gs.washington.edu." href="#short-view-affiliation-79" ref="linksrc=author_aff">
79
</a><span class="author-sup-separator">&nbsp;</span><a class="affiliation-link" title="Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. eee@gs.washington.edu." href="#short-view-affiliation-80" ref="linksrc=author_aff">
80
</a></sup></span>
</div>
</div>
<div class="collaborations">
<h3 class="title">
Collaborators
</h3>
<ul class="group-list">
<li>
<div class="authors-list">
<span class="authors-list-item "><a class="full-name"
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data-ga-label="John Acampado">John Acampado</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Andrea J Ace">Andrea J Ace</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Elizabeth Brooks">Elizabeth Brooks</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Lindsey A Cartner">Lindsey A Cartner</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Theodore Ho">Theodore Ho</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Cho+D"
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data-ga-label="Daniel Cho">Daniel Cho</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Piven+J"
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data-ga-label="Joseph Piven">Joseph Piven</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Latha V Soorya">Latha V Soorya</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Rachel Gordon">Rachel Gordon</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Lillian D Pacheco">Lillian D Pacheco</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Francis+S"
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href="/?term=Jarrett+A"
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data-ga-label="Suma Jacob">Suma Jacob</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Lillie+N"
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data-ga-label="Natasha Lillie">Natasha Lillie</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Gunderson+J"
ref="linksrc=author_name_link"
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data-ga-label="Jaclyn Gunderson">Jaclyn Gunderson</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Istephanous+D"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="Dalia Istephanous">Dalia Istephanous</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Simon+L"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Laura Simon">Laura Simon</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Wasserberg+O"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Ori Wasserberg">Ori Wasserberg</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Rachubinski+AL"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Angela L Rachubinski">Angela L Rachubinski</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Rosenberg+CR"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Cordelia R Rosenberg">Cordelia R Rosenberg</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Kanne+SM"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Stephen M Kanne">Stephen M Kanne</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Shocklee+AD"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Amanda D Shocklee">Amanda D Shocklee</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Takahashi+N"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Nicole Takahashi">Nicole Takahashi</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bridwell+SL"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Shelby L Bridwell">Shelby L Bridwell</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Klimczac+RL"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Rebecca L Klimczac">Rebecca L Klimczac</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mahurin+MA"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Melissa A Mahurin">Melissa A Mahurin</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Cotrell+HE"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Hannah E Cotrell">Hannah E Cotrell</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Grant+CA"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Cortaiga A Grant">Cortaiga A Grant</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Hunter+SG"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Samantha G Hunter">Samantha G Hunter</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Martin+CL"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Christa Lese Martin">Christa Lese Martin</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Taylor+CM"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Cora M Taylor">Cora M Taylor</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Walsh+LK"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Lauren K Walsh">Lauren K Walsh</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Dent+KA"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Katherine A Dent">Katherine A Dent</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mason+A"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Andrew Mason">Andrew Mason</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Sziklay+A"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Anthony Sziklay">Anthony Sziklay</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Smith+CJ"
ref="linksrc=author_name_link"
data-ga-category="search"
data-ga-action="author_link"
data-ga-label="Christopher J Smith">Christopher J Smith</a></span>
</div>
</li>
</ul>
</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> Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.</li>
<li data-affiliation-id="short-view-affiliation-2"
id="short-view-affiliation-2"
><sup class="key">2</sup> Baylor Genetics Laboratories, Houston, TX, USA.</li>
<li data-affiliation-id="short-view-affiliation-3"
id="short-view-affiliation-3"
><sup class="key">3</sup> Department of Molecular &amp; Human Genetics, Baylor College of Medicine, Houston, TX, USA.</li>
<li data-affiliation-id="short-view-affiliation-4"
id="short-view-affiliation-4"
><sup class="key">4</sup> Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.</li>
<li data-affiliation-id="short-view-affiliation-5"
id="short-view-affiliation-5"
><sup class="key">5</sup> Department of Anatomy, University of California, San Francisco, CA, USA.</li>
<li data-affiliation-id="short-view-affiliation-6"
id="short-view-affiliation-6"
><sup class="key">6</sup> Department of Psychiatry, University of California, San Francisco, CA, USA.</li>
<li data-affiliation-id="short-view-affiliation-7"
id="short-view-affiliation-7"
><sup class="key">7</sup> Weill Institute for Neurosciences, University of California at San Francisco, San Francisco, CA, USA.</li>
<li data-affiliation-id="short-view-affiliation-8"
id="short-view-affiliation-8"
><sup class="key">8</sup> The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA, USA.</li>
<li data-affiliation-id="short-view-affiliation-9"
id="short-view-affiliation-9"
><sup class="key">9</sup> Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.</li>
<li data-affiliation-id="short-view-affiliation-10"
id="short-view-affiliation-10"
><sup class="key">10</sup> Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.</li>
<li data-affiliation-id="short-view-affiliation-11"
id="short-view-affiliation-11"
><sup class="key">11</sup> Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.</li>
<li data-affiliation-id="short-view-affiliation-12"
id="short-view-affiliation-12"
><sup class="key">12</sup> School of Medicine and the Robinson Research Institute, the University of Adelaide at the Women&#x27;s and Children&#x27;s Hospital, Adelaide, South Australia, Australia.</li>
<li data-affiliation-id="short-view-affiliation-13"
id="short-view-affiliation-13"
><sup class="key">13</sup> Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.</li>
<li data-affiliation-id="short-view-affiliation-14"
id="short-view-affiliation-14"
><sup class="key">14</sup> South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.</li>
<li data-affiliation-id="short-view-affiliation-15"
id="short-view-affiliation-15"
><sup class="key">15</sup> Laboratorio di Genetica Medica - ASST Papa Giovanni XXIII, Bergamo, Italy.</li>
<li data-affiliation-id="short-view-affiliation-16"
id="short-view-affiliation-16"
><sup class="key">16</sup> Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.</li>
<li data-affiliation-id="short-view-affiliation-17"
id="short-view-affiliation-17"
><sup class="key">17</sup> Genetic Unit, Department of Pediatrics, Fondazione MBBM S. Gerardo Hospital, Monza, Italy.</li>
<li data-affiliation-id="short-view-affiliation-18"
id="short-view-affiliation-18"
><sup class="key">18</sup> Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children&#x27;s Hospital, IRCCS, 00146, Rome, Italy.</li>
<li data-affiliation-id="short-view-affiliation-19"
id="short-view-affiliation-19"
><sup class="key">19</sup> Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.</li>
<li data-affiliation-id="short-view-affiliation-20"
id="short-view-affiliation-20"
><sup class="key">20</sup> Center on Human Development and Disability, University of Washington, Seattle, WA, USA.</li>
<li data-affiliation-id="short-view-affiliation-21"
id="short-view-affiliation-21"
><sup class="key">21</sup> Seattle Children&#x27;s Autism Center, Seattle, WA, USA.</li>
<li data-affiliation-id="short-view-affiliation-22"
id="short-view-affiliation-22"
><sup class="key">22</sup> GeneDX, Gaithersburg, MD, USA.</li>
<li data-affiliation-id="short-view-affiliation-23"
id="short-view-affiliation-23"
><sup class="key">23</sup> Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.</li>
<li data-affiliation-id="short-view-affiliation-24"
id="short-view-affiliation-24"
><sup class="key">24</sup> Texas Children&#x27;s Hospital, Houston, TX, USA.</li>
<li data-affiliation-id="short-view-affiliation-25"
id="short-view-affiliation-25"
><sup class="key">25</sup> Department of Neurology, Boston Children&#x27;s Hospital, Harvard Medical School, Boston, MA, USA.</li>
<li data-affiliation-id="short-view-affiliation-26"
id="short-view-affiliation-26"
><sup class="key">26</sup> The Atwal Clinic: Genomic &amp; Personalized Medicine, Jacksonville, FL, USA.</li>
<li data-affiliation-id="short-view-affiliation-27"
id="short-view-affiliation-27"
><sup class="key">27</sup> Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA.</li>
<li data-affiliation-id="short-view-affiliation-28"
id="short-view-affiliation-28"
><sup class="key">28</sup> Department of Pediatrics, University of California San Diego, San Diego, CA, USA.</li>
<li data-affiliation-id="short-view-affiliation-29"
id="short-view-affiliation-29"
><sup class="key">29</sup> Genetics/Dysmorphology, Rady Children&#x27;s Hospital San Diego, San Diego, CA, USA.</li>
<li data-affiliation-id="short-view-affiliation-30"
id="short-view-affiliation-30"
><sup class="key">30</sup> Rady Children&#x27;s Institute for Genomic Medicine, San Diego, CA, USA.</li>
<li data-affiliation-id="short-view-affiliation-31"
id="short-view-affiliation-31"
><sup class="key">31</sup> Department of Neurosciences, University of California San Diego, San Diego, CA, USA.</li>
<li data-affiliation-id="short-view-affiliation-32"
id="short-view-affiliation-32"
><sup class="key">32</sup> Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.</li>
<li data-affiliation-id="short-view-affiliation-33"
id="short-view-affiliation-33"
><sup class="key">33</sup> Clinique de Génétique, Hôpital Jeanne de Flandre, Bâtiment Modulaire, CHU, 59037, Lille Cedex, France.</li>
<li data-affiliation-id="short-view-affiliation-34"
id="short-view-affiliation-34"
><sup class="key">34</sup> Sorbonne Universités, Centre de Référence déficiences intellectuelles de causes rares, département de génétique et embryologie médicale, Hôpital Trousseau, AP-HP, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-35"
id="short-view-affiliation-35"
><sup class="key">35</sup> Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.</li>
<li data-affiliation-id="short-view-affiliation-36"
id="short-view-affiliation-36"
><sup class="key">36</sup> Department of Medical and Molecular Genetics, IU Health, Indianapolis, IN, USA.</li>
<li data-affiliation-id="short-view-affiliation-37"
id="short-view-affiliation-37"
><sup class="key">37</sup> Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.</li>
<li data-affiliation-id="short-view-affiliation-38"
id="short-view-affiliation-38"
><sup class="key">38</sup> Pediatric Neurology, Assuta-Ashdod University Hospital, Ashdod, Israel.</li>
<li data-affiliation-id="short-view-affiliation-39"
id="short-view-affiliation-39"
><sup class="key">39</sup> Health Sciences, Ben-Gurion University of the Negev, Beersheba, Israel.</li>
<li data-affiliation-id="short-view-affiliation-40"
id="short-view-affiliation-40"
><sup class="key">40</sup> Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.</li>
<li data-affiliation-id="short-view-affiliation-41"
id="short-view-affiliation-41"
><sup class="key">41</sup> H C Andersen Chilldrens Hospital, Odense University Hospital, Odense, Denmark.</li>
<li data-affiliation-id="short-view-affiliation-42"
id="short-view-affiliation-42"
><sup class="key">42</sup> Gillette Children&#x27;s Specialty Healthcare, Saint Paul, MN, USA.</li>
<li data-affiliation-id="short-view-affiliation-43"
id="short-view-affiliation-43"
><sup class="key">43</sup> Division of Clinical Genetics, Children&#x27;s Mercy Kansas City, Kansas City, MO, USA.</li>
<li data-affiliation-id="short-view-affiliation-44"
id="short-view-affiliation-44"
><sup class="key">44</sup> The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.</li>
<li data-affiliation-id="short-view-affiliation-45"
id="short-view-affiliation-45"
><sup class="key">45</sup> Children&#x27;s Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA.</li>
<li data-affiliation-id="short-view-affiliation-46"
id="short-view-affiliation-46"
><sup class="key">46</sup> Oregon Health &amp; Science University, Corvallis, OR, USA.</li>
<li data-affiliation-id="short-view-affiliation-47"
id="short-view-affiliation-47"
><sup class="key">47</sup> Department of Genetics, Hópital Pitié-Salpêtrière, Paris, France.</li>
<li data-affiliation-id="short-view-affiliation-48"
id="short-view-affiliation-48"
><sup class="key">48</sup> Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.</li>
<li data-affiliation-id="short-view-affiliation-49"
id="short-view-affiliation-49"
><sup class="key">49</sup> Genetics Department, Cook Children&#x27;s Hospital, Fort Worth, TX, USA.</li>
<li data-affiliation-id="short-view-affiliation-50"
id="short-view-affiliation-50"
><sup class="key">50</sup> Department of Medical Genetics, University of British Columbia, Vancouver, Canada.</li>
<li data-affiliation-id="short-view-affiliation-51"
id="short-view-affiliation-51"
><sup class="key">51</sup> BC Children&#x27;s Hospital and BC Women&#x27;s Hospital, Vancouver, BC, Canada.</li>
<li data-affiliation-id="short-view-affiliation-52"
id="short-view-affiliation-52"
><sup class="key">52</sup> Division of Developmental Pediatrics, Department of Pediatrics, BC Children&#x27;s Hospital, University of British Columbia, Vancouver, BC, Canada.</li>
<li data-affiliation-id="short-view-affiliation-53"
id="short-view-affiliation-53"
><sup class="key">53</sup> Sunny Hill Health Centre for Children, Vancouver, BC, Canada.</li>
<li data-affiliation-id="short-view-affiliation-54"
id="short-view-affiliation-54"
><sup class="key">54</sup> Department of Pediatrics, The Children&#x27;s Hospital at Montefiore, Bronx, NY, USA.</li>
<li data-affiliation-id="short-view-affiliation-55"
id="short-view-affiliation-55"
><sup class="key">55</sup> Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.</li>
<li data-affiliation-id="short-view-affiliation-56"
id="short-view-affiliation-56"
><sup class="key">56</sup> Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.</li>
<li data-affiliation-id="short-view-affiliation-57"
id="short-view-affiliation-57"
><sup class="key">57</sup> UPMC Children&#x27;s Hospital of Pittsburgh, Pittsburgh, PA, USA.</li>
<li data-affiliation-id="short-view-affiliation-58"
id="short-view-affiliation-58"
><sup class="key">58</sup> Kaiser Permanente Southern California, Los Angeles, CA, USA.</li>
<li data-affiliation-id="short-view-affiliation-59"
id="short-view-affiliation-59"
><sup class="key">59</sup> The Permanente Medical Group, Oakland, CA, USA.</li>
<li data-affiliation-id="short-view-affiliation-60"
id="short-view-affiliation-60"
><sup class="key">60</sup> Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.</li>
<li data-affiliation-id="short-view-affiliation-61"
id="short-view-affiliation-61"
><sup class="key">61</sup> Center for Integrative Brain Research, Seattle Children&#x27;s Research Institute, Seattle, WA, USA.</li>
<li data-affiliation-id="short-view-affiliation-62"
id="short-view-affiliation-62"
><sup class="key">62</sup> Department of Pediatrics, University of Washington, Seattle, WA, USA.</li>
<li data-affiliation-id="short-view-affiliation-63"
id="short-view-affiliation-63"
><sup class="key">63</sup> Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.</li>
<li data-affiliation-id="short-view-affiliation-64"
id="short-view-affiliation-64"
><sup class="key">64</sup> Al Dupont Hospital for Children, Wilmington, DE, USA.</li>
<li data-affiliation-id="short-view-affiliation-65"
id="short-view-affiliation-65"
><sup class="key">65</sup> NYU Grossman School of Medicine, Department of Pediatrics, Clinical Genetic Services, New York, NY, USA.</li>
<li data-affiliation-id="short-view-affiliation-66"
id="short-view-affiliation-66"
><sup class="key">66</sup> Center for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium.</li>
<li data-affiliation-id="short-view-affiliation-67"
id="short-view-affiliation-67"
><sup class="key">67</sup> Oasi Research Institute-IRCCS, Troina, Italy.</li>
<li data-affiliation-id="short-view-affiliation-68"
id="short-view-affiliation-68"
><sup class="key">68</sup> Department of Genetics, University Medical Center, Utrecht University, Utrecht, The Netherlands.</li>
<li data-affiliation-id="short-view-affiliation-69"
id="short-view-affiliation-69"
><sup class="key">69</sup> Rare Disease Institute, Children&#x27;s National Health System, Washington, DC, USA.</li>
<li data-affiliation-id="short-view-affiliation-70"
id="short-view-affiliation-70"
><sup class="key">70</sup> Department of Genetics, Driscoll Children&#x27;s Hospital, Corpus Christi, TX, USA.</li>
<li data-affiliation-id="short-view-affiliation-71"
id="short-view-affiliation-71"
><sup class="key">71</sup> Department of Pediatric Gastroenterology, Driscoll Children&#x27;s Hospital, Corpus Christi, TX, USA.</li>
<li data-affiliation-id="short-view-affiliation-72"
id="short-view-affiliation-72"
><sup class="key">72</sup> Àrea de Genètica Clínica i Molecular, Hospital Vall d&#x27;Hebrón, Barcelona, Spain.</li>
<li data-affiliation-id="short-view-affiliation-73"
id="short-view-affiliation-73"
><sup class="key">73</sup> Centre de référence Anomalies du développement, CHU Grenoble-Alpes, Grenoble, France.</li>
<li data-affiliation-id="short-view-affiliation-74"
id="short-view-affiliation-74"
><sup class="key">74</sup> UF Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne and INSERM UMR1231 GAD, Université de Bourgogne Franche-Comté, F-21000, Dijon, France.</li>
<li data-affiliation-id="short-view-affiliation-75"
id="short-view-affiliation-75"
><sup class="key">75</sup> INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.</li>
<li data-affiliation-id="short-view-affiliation-76"
id="short-view-affiliation-76"
><sup class="key">76</sup> Centre de Référence Maladies Rares « déficience intellectuelle », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.</li>
<li data-affiliation-id="short-view-affiliation-77"
id="short-view-affiliation-77"
><sup class="key">77</sup> Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs »​ Université Bourgogne Franche-Comté, Dijon, France.</li>
<li data-affiliation-id="short-view-affiliation-78"
id="short-view-affiliation-78"
><sup class="key">78</sup> Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.</li>
<li data-affiliation-id="short-view-affiliation-79"
id="short-view-affiliation-79"
><sup class="key">79</sup> Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA. eee@gs.washington.edu.</li>
<li data-affiliation-id="short-view-affiliation-80"
id="short-view-affiliation-80"
><sup class="key">80</sup> Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. eee@gs.washington.edu.</li>
</ul>
</div>
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<h2 class="title">
Abstract
</h2>
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id="eng-abstract">
<p>
<strong class="sub-title">
Background:
</strong>
With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that those with related molecular function share clinical presentations.
</p>
<p>
<strong class="sub-title">
Methods:
</strong>
We tested our hypothesis by considering gene families that have multiple members with an enrichment of de novo variants among NDDs, as determined by previous meta-analyses. One of these gene families is the heterogeneous nuclear ribonucleoproteins (hnRNPs), which has 33 members, five of which have been recently identified as NDD genes (HNRNPK, HNRNPU, HNRNPH1, HNRNPH2, and HNRNPR) and two of which have significant enrichment in our previous meta-analysis of probands with NDDs (HNRNPU and SYNCRIP). Utilizing protein homology, mutation analyses, gene expression analyses, and phenotypic characterization, we provide evidence for variation in 12 HNRNP genes as candidates for NDDs. Seven are potentially novel while the remaining genes in the family likely do not significantly contribute to NDD risk.
</p>
<p>
<strong class="sub-title">
Results:
</strong>
We report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants. Three hnRNP-encoding genes reach nominal or exome-wide significance for de novo variant enrichment, while nine are candidates for pathogenic mutations. Comparison of HNRNP gene expression shows a pattern consistent with a role in cerebral cortical development with enriched expression among radial glial progenitors. Clinical assessment of probands (n = 188-221) expands the phenotypes associated with HNRNP rare variants, and phenotypes associated with variation in the HNRNP genes distinguishes them as a subgroup of NDDs.
</p>
<p>
<strong class="sub-title">
Conclusions:
</strong>
Overall, our novel approach of exploiting gene families in NDDs identifies new HNRNP-related disorders, expands the phenotypes of known HNRNP-related disorders, strongly implicates disruption of the hnRNPs as a whole in NDDs, and supports that NDD subtypes likely have shared molecular pathogenesis. To date, this is the first study to identify novel genetic disorders based on the presence of disorders in related genes. We also perform the first phenotypic analyses focusing on related genes. Finally, we show that radial glial expression of these genes is likely critical during neurodevelopment. This is important for diagnostics, as well as developing strategies to best study these genes for the development of therapeutics.
</p>
</div>
<p>
<strong class="sub-title">
Keywords:
</strong>
Cortex development; Gene families; Neurodevelopmental disorders; hnRNPs.
</p>
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<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 Department of Molecular and Human Genetics at Baylor College of Medicine receives revenue from clinical genetic testing conducted at Baylor Genetics Laboratory. E.T. is an employee of GeneDx. The remaining authors declare no competing interests.</p>
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<div class="figures" id="figures">
<h2 class="title">
Figures
</h2>
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<strong class="figure-label">
<p> Fig. 1 </p>
</strong>
<div class="figure-caption-contents"><p> Study workflow. Candidate NDD <i> HNRNP… </i> </p></div>
</div>
</div>
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
<strong class="figure-label">
<p> Fig. 1 </p>
</strong>
<div class="figure-caption-contents"><p> Study workflow. Candidate NDD <i> HNRNP </i> s were determined from the literature and publicly… </p></div>
</div>
<figcaption id="figure-caption-0" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
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Fig. 1
</strong>
<div class="figure-caption-contents">Study workflow. Candidate NDD <i>HNRNP</i>s were determined from the literature and publicly available information (such as amino acid sequences) and from identification of probands in our novel cohorts. The candidate NDD <i>HNRNP</i>s were finalized by considering only genes in which at least three probands were identified from published and/or novel sources. Functional impacts focused on these finalized NDD <i>HNRNP</i> candidates and included pathogenicity predictions (gnomAD and GEVIR), de novo enrichment analyses (using the ChimpanzeeHuman [CH] model and denovolyzeR), missense analyses (using CLUMP and MetaDome), expression analyses of fetal cortex and adult tissues, and phenotypic analyses within <i>HNRNP</i>s, across <i>HNRNP</i>s, and in comparison to other similarly presenting disorders by HPO terms. CNV: copy number variant; pLI: loss-of-function intolerance; LGD: likely gene disrupting; NMD: nonsense mediated decay; HPO: human phenotype ontology</div>
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<p> Fig. 2 </p>
</strong>
<div class="figure-caption-contents"><p> Protein similarity of hnRNPs. Correlation… </p></div>
</div>
</div>
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
<strong class="figure-label">
<p> Fig. 2 </p>
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<div class="figure-caption-contents"><p> Protein similarity of hnRNPs. Correlation plot of hnRNPs by canonical amino acid sequence.… </p></div>
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<div class="figure-caption-contents">Protein similarity of hnRNPs. Correlation plot of hnRNPs by canonical amino acid sequence. Pearson correlation values are shown in the bottom half of the plot and are shown visually on the top half of the plot</div>
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<p> Fig. 3 </p>
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<div class="figure-caption-contents"><p> Pathogenicity assessment of variation in… </p></div>
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<div class="figure-caption-contents"><p> Pathogenicity assessment of variation in hnRNPs. pLI and <i> Z </i> -scores were obtained from… </p></div>
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Fig. 3
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<div class="figure-caption-contents">Pathogenicity assessment of variation in hnRNPs. pLI and <i>Z</i>-scores were obtained from gnomAD. pLI scores are significantly higher among NDD hnRNPs (<i>n</i>=12) compared to non-NDD hnRNPs (<i>n</i>=20), suggesting LGD variants are more likely to be damaging. <i>Z</i>-scores trend towards being significantly higher for NDD hnRNPs, suggesting severe missense variants are likely to be damaging. <i>T</i>-test with Welchs correction. *<i>p</i>&lt;0.05. pLI: loss-of-function intolerance</div>
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<p> Fig. 4 </p>
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<div class="figure-caption-contents"><p> De novo enrichment and clustering… </p></div>
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<div class="figure-caption-contents"><p> De novo enrichment and clustering of missense variation analyses of NDD hnRNPs. <b> a… </b> </p></div>
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Fig. 4
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<div class="figure-caption-contents">De novo enrichment and clustering of missense variation analyses of NDD hnRNPs. <b>a</b> De novo variation was assessed for NDD <i>HNRNP</i>s using two statistical models: the CH model and denovolyzeR. Right/above the dotted line indicates the gene achieves exome-wide significance (<i>q</i>&lt;4.24×10<sup>7</sup>) while right/above the dashed line indicates the gene reaches nominal significance (<i>q</i> &lt;0.05). <i>HNRNPU</i> reaches exome-wide significance for all protein-impacting variants (Protein) and LGD variants, with severe missense variants reaching significance by only the CH model. <i>SYNCRIP</i> reaches exome-wide significance for LGD variants and all protein-impacting variants by the CH model alone. <i>HNRNPD</i> reaches nominal significance by the CH model. <i>P</i> values are FDR corrected with the number of genes (<i>n</i>=18,946 for CH model and <i>n</i>=19,618 for denovolyzeR) with three tests per gene (LGD, missense, and all protein changes) and two tests (CH model and denovolyzeR) per mutation type. Only cohorts with known de novo status were included, as listed in Tables S1 and S7. Statistics can be seen in Table S6. <b>b</b> Analysis of clustered missense variants. Clustering of missense variants was analyzed using CLUMP; scores are shown in Table S6 (paired <i>t</i>-test). Compared to the non-neuropsychiatric subset of gnomAD (<i>n</i>=114,704, 1958 missense variants), the CLUMP score for NDD hnRNPs (red) among probands is significantly lower than controls in gnomAD (black), indicating more clustering of mutations (shown by arrow). Note that only genes with variants in the current cohort could undergo this analysis. hnRNPH2, hnRNPK, hnRNPR, and hnRNPUL1 each have independent significant clumping compared to gnomAD controls. <b>c</b> CLUMP scores for missense variants in probands with ASD (<i>n</i>=60). HnRNPH2, hnRNPK, hnRNPR, and hnRNPUL1 reach significance independently. *<i>p</i>&lt;0.05, **<i>p</i>&lt;0.01, ***<i>p</i>&lt;0.001. LGD: likely gene disrupting; Missense: severe missense (CADD ≥ 20); Protein: all protein-affecting variants</div>
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<p> Fig. 5 </p>
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<div class="figure-caption-contents"><p> hnRNP proband variants. Protein structure,… </p></div>
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<p> Fig. 5 </p>
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<div class="figure-caption-contents"><p> hnRNP proband variants. Protein structure, known binding motif, number of probands by mutation… </p></div>
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Fig. 5
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<div class="figure-caption-contents">hnRNP proband variants. Protein structure, known binding motif, number of probands by mutation type, location of variants in each protein, and known associated disorders of NDD hnRNPs are shown. Novel cases are above the protein with published cases below. Red indicates LGD variants and blue represents severe missense variants. RRM: RNA recognition motif; qRRM: quasi-RNA recognition motif; KH: K-homology domain; RGG: Arginine-glycine rich (RGG) box; NLS: nuclear localization sequence. Further details of each variant are shown in Table S7. Adapted from Geuens et al. [83]. <b>a</b> Gene reaches exome-wide significance for all protein-impacting variants by CH model. <b>b</b> Gene reaches exome-wide significance for all protein-impacting variants and LGD variants by CH model. <b>c</b> Gene reaches exome-wide significance for all protein-impacting variants and LGD variants by CH model and denovolyzeR. <b>d</b> Gene reaches significance for missense variant clustering</div>
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<p> Fig. 6 </p>
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<div class="figure-caption-contents"><i> HNRNP </i> expression in adult and…</div>
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<p> Fig. 6 </p>
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<div class="figure-caption-contents"><i> HNRNP </i> expression in adult and developing fetal cortex tissues. <b> a </b> Heatmap showing transcript-level…</div>
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Fig. 6
</strong>
<div class="figure-caption-contents"><i>HNRNP</i> expression in adult and developing fetal cortex tissues. <b>a</b> Heatmap showing transcript-level expression values for NDD hnRNPs for adult brain tissues in GTEx. All tissues are shown in Fig. S4, and <i>p</i> values among individual <i>HNRNP</i>s are shown in Table S3. <b>b</b> Heatmap showing fold change of expression of each NDD <i>HNRNP</i> among 48 different cell types in the developing fetal cortex. Blue indicates increase in fold change of expression and red indicates decreased expression, as determined by <i>Z</i>-scores. NDD <i>HNRNP</i>s have higher fold expression change in MGE progenitors, radial glia, and excitatory neurons, while depleted in inhibitory neurons. All <i>HNRNP</i>s are shown in Fig. S3. Significance indicates enrichment in particular cell types by Wilcoxon ranked sum test with Bonferroni correction based on number of cell types. <i>P</i> values and fold change for scRNA data from developing human cortex can be seen in Tables S4 and S5. <b>c</b> Correlation plot of developing fetal cortex gene expression. Pearson correlation <i>R</i> values are shown in the bottom half of the plot, which are visually in the top half of the plot. <i>P</i> values were corrected by number of genes [23] and number of cell types [48]. <i>HNRNP</i>s in the same homology group tend to have more correlated expression. <b>d</b> Specific brain region enrichment as determined by SEA, showing enrichment of expression of the NDD <i>HNRNP</i>s in the early fetal striatum and early-mid fetal amygdala. *<i>p</i>&lt;0.05; **<i>p</i>&lt;0.01; ***<i>p</i>&lt;0.001, ****<i>p</i>&lt;0.0001</div>
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<p> Fig. 7 </p>
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<div class="figure-caption-contents"><p> Phenotypic information of 189221 hnRNP-variation… </p></div>
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<p> Fig. 7 </p>
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<div class="figure-caption-contents"><p> Phenotypic information of 189221 hnRNP-variation probands. <b> a </b> Correlation matrix of phenotypes across hnRNP… </p></div>
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Fig. 7
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<div class="figure-caption-contents">Phenotypic information of 189221 hnRNP-variation probands. <b>a</b> Correlation matrix of phenotypes across hnRNP probands. Genes are in order of protein similarity as determined by Clustal Omega and canonical protein sequences as in Fig. 1. Phenotypes correlate across all <i>HNRNP</i>s, except <i>HNRNPF</i> due to sample size. Size and shade of circle represent correlation coefficients, which are shown on bottom half of matrix. Correlations for LGD and missense variants separately are in Fig. S4. <i>P</i> values, which are corrected by number of genes [23] and phenotypes (88, occurring in at least 20% of any <i>HNRNP</i> group) can be seen in Table S9. <b>b</b> Plot comparing protein and phenotype correlations that are over Pearsons <i>R</i>=0.5. Colors are the same as in Fig. 2 protein groups. Those with more similar protein sequences tend to be more phenotypically similar. <b>c</b> Plot of phenotypes of all probands by mutation type. Individual <i>HNRNP</i>s can be seen in Fig. S5. <b>d</b> Heatmap indicating percent of probands with phenotype. Sample sizes can be seen in Table S7 and range from <i>n</i>=2 (<i>HNRNPF</i>) to <i>n</i>=83 (<i>HNRNPU</i>). Lines indicate significant differences as determined by pairwise Fishers exact tests with Bonferroni correction based on 12 genes, 88 phenotypes, and three mutational categories. Red dashed lines indicate significance with only LGD variants. Raw <i>p</i> values can be seen in Tables S8. *<i>p</i>&lt;0.05, **<i>p</i>&lt;0.01, ***<i>p</i>&lt;0.001, ****<i>p</i>&lt;0.0001. LGD: likely gene disrupting; MIS: severe missense (CADD ≥ 20)</div>
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<p> Fig. 8 </p>
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<div class="figure-caption-contents"><p> Relationship of <i> HNRNP </i> -related disorders… </p></div>
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<p> Fig. 8 </p>
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<div class="figure-caption-contents"><p> Relationship of <i> HNRNP </i> -related disorders to each other and to similarly presenting disorders.… </p></div>
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Fig. 8
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<div class="figure-caption-contents">Relationship of <i>HNRNP</i>-related disorders to each other and to similarly presenting disorders. <b>a</b> Comparison of average number of HPO terms shared within <i>HNRNP</i>s versus with other similarly presenting disorders, as determined by PhenPath. The <i>HNRNP</i>-related disorders present more similarly to each other than other NDDs. HPO terms are in Table S12. <b>b</b> Heatmap showing fold change of expression of each NDD <i>HNRNP</i> and similarly presenting NDD based on HPO terms among 48 different cell types. Blue indicates increase in fold change of expression and red indicates decreased expression, as determined by <i>Z</i>-scores. <b>c</b> Correlation plot of developing fetal cortex gene expression for <i>HNRNP</i>s and genes implicated in similarly presenting disorders. Pearson correlation R values shown visually, with darker and larger circles indicating higher Pearson R values. <i>HNRNP</i>s are noted with a red line. P values were corrected by number of genes [28] and number of cell types [48]. *<i>p</i>&lt;0.05, **<i>p</i>&lt;0.01, ***<i>p</i>&lt;0.001, ****<i>p</i>&lt;0.0001. <b>d</b> Comparison of expression Pearsons <i>R</i> values within <i>HNRNP</i>s and compared to similarly presenting disorders. The expression of the <i>HNRNP</i>s is more similar to each other than to other NDDs</div>
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