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</a>
|
||
</span>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</form>
|
||
|
||
|
||
<div id="article-page-header">
|
||
<div id="article-top-actions-bar" class="article-top-actions-bar">
|
||
<div class="inner-wrap">
|
||
<div class="actions-container">
|
||
<div class="return-to-search">
|
||
|
||
|
||
</div>
|
||
|
||
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
|
||
<button id="save-results-panel-trigger"
|
||
type="button"
|
||
class="save-results save-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="save-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="open">
|
||
Save
|
||
</button><button id="email-results-panel-trigger"
|
||
type="button"
|
||
class="email-results email-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="email-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="open">
|
||
Email
|
||
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
|
||
type="button"
|
||
class="trigger more-actions-trigger"
|
||
ref="linksrc=show_moreactions_btn"
|
||
aria-label="Send to"
|
||
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
|
||
href="#"
|
||
role="button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="clipboard"
|
||
data-ga-label="send">
|
||
Clipboard
|
||
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F28191890%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F28191890%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region">
|
||
<button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog">
|
||
<span class="button-label">Display options</span>
|
||
</button>
|
||
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Display options
|
||
</div>
|
||
|
||
<div class="content">
|
||
|
||
<div class="format-container">
|
||
<span class="option-label">
|
||
Format
|
||
</span>
|
||
<select name="format" data-initial-value="abstract" aria-label="Display format" id="article-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kkJDOKnFuhO7jbUKsyBvHAw5KnzIcqZ6B7tIrAQ14SBBdC0A5RexbI2JirhU51xq">
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="article-panels-container" class="article-panels-container">
|
||
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Save citation to file
|
||
</h2>
|
||
<form id="save-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kkJDOKnFuhO7jbUKsyBvHAw5KnzIcqZ6B7tIrAQ14SBBdC0A5RexbI2JirhU51xq">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="save-action-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="save-action-format" name="results-format" class="action-panel-selector">
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="pubmed-text">PubMed</option>
|
||
<option value="pmid">PMID</option>
|
||
<option value="abstract">Abstract (text)</option>
|
||
<option value="csv">CSV</option>
|
||
</select>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Save citations to file' panel"
|
||
ref="linksrc=close_save_panel"
|
||
aria-controls="save-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="email-action-panel"
|
||
class="email-action-panel action-panel"
|
||
aria-hidden="true"
|
||
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
|
||
data-recaptcha-enabled="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Email citation
|
||
</h2>
|
||
<form id="email-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/send-email/"
|
||
data-by-search-action="/results-export-email-by-search-data/"
|
||
data-by-ids-action="/send-email/"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post"
|
||
method="post"
|
||
>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kkJDOKnFuhO7jbUKsyBvHAw5KnzIcqZ6B7tIrAQ14SBBdC0A5RexbI2JirhU51xq">
|
||
|
||
<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: 28191890 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 28191890"/>
|
||
<input type="hidden" name="email-subject-hash" value="0da0a82df7a9fc8469b4a747cf7189ffdafd9ed01ffc6c2be417bd276ac7a012"/>
|
||
</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="kkJDOKnFuhO7jbUKsyBvHAw5KnzIcqZ6B7tIrAQ14SBBdC0A5RexbI2JirhU51xq">
|
||
|
||
|
||
|
||
<div class="choice-group" role="radiogroup">
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_new">
|
||
<label for="collections-action-panel-new">Create a new collection</label>
|
||
</li>
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_existing">
|
||
<label for="collections-action-panel-existing">Add to an existing collection</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="controls-wrapper">
|
||
<div class="action-panel-control-wrap new-collections-controls">
|
||
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label>
|
||
<input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-panel-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="save_share"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection">
|
||
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div>
|
||
</div>
|
||
<div class="action-panel-control-wrap existing-collections-controls">
|
||
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label>
|
||
<select id="collections-action-panel-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="save_share"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
|
||
</select>
|
||
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="add">
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="bibliography-action-panel"
|
||
class="bibliography-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-bibliography-open-panel-enabled="false"
|
||
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to My Bibliography
|
||
</h3>
|
||
<form id="bibliography-action-panel-form"
|
||
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-add-to-bibliography-max-amount="100"
|
||
data-add-to-bibliography-batch-size="10"
|
||
data-bibliography-delegates-url="/list-bibliography-delegates/"
|
||
data-add-to-bibliography-url="/add-to-bibliography/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kkJDOKnFuhO7jbUKsyBvHAw5KnzIcqZ6B7tIrAQ14SBBdC0A5RexbI2JirhU51xq">
|
||
|
||
|
||
|
||
<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="kkJDOKnFuhO7jbUKsyBvHAw5KnzIcqZ6B7tIrAQ14SBBdC0A5RexbI2JirhU51xq">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
|
||
Name of saved search:
|
||
</label>
|
||
<input maxlength="200"
|
||
type="text"
|
||
name="saved-search-name"
|
||
id="saved-search-name"
|
||
class="saved-search-name"
|
||
value=""
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
|
||
Search terms:
|
||
</label>
|
||
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
|
||
</div>
|
||
<div class="test-search-term-wrap">
|
||
<a href="#" class="try-search-term">Test search terms</a>
|
||
</div>
|
||
<div class="choice-group action-panel-extra-margin-top">
|
||
<span class="action-panel-label" id="fieldset-label">
|
||
Would you like email updates of new search results?
|
||
</span>
|
||
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
|
||
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
|
||
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
|
||
</li>
|
||
<li>
|
||
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
|
||
<label for="saved-search-alert-no" class="action-panel-label">No</label>
|
||
</li>
|
||
</ul>
|
||
</fieldset>
|
||
</div>
|
||
|
||
<div class="alert-schedule-wrap">
|
||
<div class="action-panel-control-wrap">
|
||
<label class="action-panel-label">
|
||
Email:
|
||
</label>
|
||
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
|
||
</div>
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="saved-search-frequency" class="action-panel-label">
|
||
Frequency:
|
||
</label>
|
||
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
|
||
<option value="monthly">Monthly</option>
|
||
<option value="weekly">Weekly</option>
|
||
<option value="daily">Daily</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-monthly-additional">
|
||
<label for="saved-search-monthly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
|
||
<option value="Sunday">The first Sunday</option>
|
||
<option value="Monday">The first Monday</option>
|
||
<option value="Tuesday">The first Tuesday</option>
|
||
<option value="Wednesday">The first Wednesday</option>
|
||
<option value="Thursday">The first Thursday</option>
|
||
<option value="Friday">The first Friday</option>
|
||
<option value="Saturday">The first Saturday</option>
|
||
<option value="day">The first day</option>
|
||
<option value="weekday">The first weekday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-weekly-additional">
|
||
<label for="saved-search-weekly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
|
||
<option value="Sunday">Sunday</option>
|
||
<option value="Monday">Monday</option>
|
||
<option value="Tuesday">Tuesday</option>
|
||
<option value="Wednesday">Wednesday</option>
|
||
<option value="Thursday">Thursday</option>
|
||
<option value="Friday">Friday</option>
|
||
<option value="Saturday">Saturday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-report" class="action-panel-label">
|
||
Report format:
|
||
</label>
|
||
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
|
||
<option value="DocSum">Summary</option>
|
||
<option value="DocSumText">Summary (text)</option>
|
||
<option value="Abstract">Abstract</option>
|
||
<option value="AbstractText">Abstract (text)</option>
|
||
<option value="MEDLINE">PubMed</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-amount" class="action-panel-label">
|
||
Send at most:
|
||
</label>
|
||
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
|
||
<option value="1">1 item</option>
|
||
<option value="5" selected>5 items</option>
|
||
<option value="10">10 items</option>
|
||
<option value="20">20 items</option>
|
||
<option value="50">50 items</option>
|
||
<option value="100">100 items</option>
|
||
<option value="200">200 items</option>
|
||
</select>
|
||
</div>
|
||
<div>
|
||
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
|
||
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
|
||
Send even when there aren't any new results
|
||
</label>
|
||
</div>
|
||
<div class="action-panel-control-wrap option-text-in-email-wrap">
|
||
<label for="saved-search-email-text" class="action-panel-label">
|
||
Optional text in email:
|
||
</label>
|
||
<textarea name="saved-search-email-text"
|
||
id="saved-search-email-text"
|
||
class="saved-search-email-text"></textarea>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Save
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your saved search' panel"
|
||
ref="linksrc=close_saved_search_panel"
|
||
aria-controls="saved-search-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Create a file for external citation management software
|
||
</h2>
|
||
<form id="citation-manager-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kkJDOKnFuhO7jbUKsyBvHAw5KnzIcqZ6B7tIrAQ14SBBdC0A5RexbI2JirhU51xq">
|
||
|
||
|
||
|
||
<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="kkJDOKnFuhO7jbUKsyBvHAw5KnzIcqZ6B7tIrAQ14SBBdC0A5RexbI2JirhU51xq">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="rss-name" class="action-panel-label required-field-asterisk">
|
||
Name of RSS Feed:
|
||
</label>
|
||
<input maxlength="200"
|
||
placeholder="Name"
|
||
type="text"
|
||
name="rss-name"
|
||
id="rss-name"
|
||
class="rss-name"
|
||
value=''
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="rss-limit-wrap">
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="rss-limit" class="action-panel-label">
|
||
Number of items displayed:
|
||
</label>
|
||
<select id="rss-limit" class="no-border-panel-selector rss-limit">
|
||
<option value="5">5</option>
|
||
<option value="10">10</option>
|
||
<option value="15" selected="selected">15</option>
|
||
<option value="20">20</option>
|
||
<option value="50">50</option>
|
||
<option value="100">100</option>
|
||
</select>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Creating..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Create RSS
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your RSS' panel"
|
||
ref="linksrc=close_rss_panel"
|
||
aria-controls="rss-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap rss-link-copy-wrap">
|
||
<label for="rss-link" class="usa-sr-only">RSS Link</label>
|
||
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
|
||
<button
|
||
type="button"
|
||
disabled
|
||
class="rss-link-copy-button disabled"
|
||
data-ga-category="save_share"
|
||
data-ga-action="rss"
|
||
data-ga-label="copy">
|
||
Copy
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="article-page" id="article-page" data-article-pmid="28191890">
|
||
<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://doi.org/10.1038/ng.3789"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3094&itool=Abstract-def&log$=linkouticon&uid=28191890&db=pubmed&nlmid=9216904"
|
||
title="See full text options at Nature Publishing Group"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Nature Publishing Group"
|
||
data-ga-label="28191890"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--www.nature.com-static-images-logos-nature-portfolio-120.png" alt="Nature Publishing Group full text link"><span class="text">
|
||
|
||
Nature Publishing Group
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/28191890/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=28191890&db=pubmed&nlmid=9216904"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="28191890"
|
||
><span class="text">
|
||
|
||
Free PMC article
|
||
|
||
</span></a>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="short-view">
|
||
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
|
||
Full text links
|
||
</a>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
|
||
aria-label="Open dialog with citation text in different styles"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="open"
|
||
data-all-citations-url="/28191890/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/28191890/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="28191890" 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%2F28191890%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="kkJDOKnFuhO7jbUKsyBvHAw5KnzIcqZ6B7tIrAQ14SBBdC0A5RexbI2JirhU51xq"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label><input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-dialog-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label><select id="collections-action-dialog-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="add">
|
||
Add
|
||
</button><button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region"><button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
|
||
Display options
|
||
</div><div class="content"><div class="format-container"><span class="option-label">
|
||
Format
|
||
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</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2017 Apr;49(4):504-510.</span>
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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
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</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2017 Apr;49(4):504-510.</span>
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<span class="citation-doi">
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doi: 10.1038/ng.3789.
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</span>
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<span class="secondary-date">
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Epub 2017 Feb 13.
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id="short-view-affiliation-5"
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id="short-view-affiliation-6"
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id="short-view-affiliation-7"
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id="short-view-affiliation-9"
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id="short-view-affiliation-10"
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id="short-view-affiliation-13"
|
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><sup class="key">13</sup> Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.</li>
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<li data-affiliation-id="short-view-affiliation-14"
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><sup class="key">14</sup> Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA.</li>
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<li data-affiliation-id="short-view-affiliation-15"
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<li data-affiliation-id="short-view-affiliation-16"
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><sup class="key">16</sup> Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.</li>
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<li data-affiliation-id="short-view-affiliation-17"
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><sup class="key">17</sup> Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.</li>
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<li data-affiliation-id="short-view-affiliation-18"
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><sup class="key">18</sup> Departments of Pediatrics (Systems Medicine), Biomedical Data Science, and Psychiatry (by courtesy), Stanford University, Stanford, California, USA.</li>
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Recent research has uncovered an important role for de novo variation in neurodevelopmental disorders. Using aggregated data from 9,246 families with autism spectrum disorder, intellectual disability, or developmental delay, we found that ∼1/3 of de novo variants are independently present as standing variation in the Exome Aggregation Consortium's cohort of 60,706 adults, and these de novo variants do not contribute to neurodevelopmental risk. We further used a loss-of-function (LoF)-intolerance metric, pLI, to identify a subset of LoF-intolerant genes containing the observed signal of associated de novo protein-truncating variants (PTVs) in neurodevelopmental disorders. LoF-intolerant genes also carry a modest excess of inherited PTVs, although the strongest de novo-affected genes contribute little to this excess, thus suggesting that the excess of inherited risk resides in lower-penetrant genes. These findings illustrate the importance of population-based reference cohorts for the interpretation of candidate pathogenic variants, even for analyses of complex diseases and de novo variation.
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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"><bold>Competing Financial Interests</bold></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 authors declare no competing financial interests.</p>
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<div class="figure-caption-contents">Illustration of class 1 and class 2 <i>de novo</i> variants with the genotypes of each variant for 8 of the 60,706 individuals in ExAC.</div>
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<div class="figure-caption-contents">Properties of class 2 <i>de novo</i> variants. (<b>a</b>) The proportion of <i>de novo</i> variants across each cohort split between class 1 (left) and class 2 (right) with CpG variants marked in black. Class 2 <i>de novo</i> variants are strongly enriched for CpG variants (<i>P</i> < 10<sup>−20</sup>). The corresponding figure using the non-psychiatric version of ExAC can be found in Supplementary Figure 2. (<b>b</b>) Expected recurrence rate (rate of class 2 <i>de novo</i> variants across ID/DD, ASD, and unaffected ASD siblings) given the sample size of the reference dataset. The red dot indicates the observed recurrence rate of the non-psychiatric version of ExAC. (<b>c</b>) Allele frequency distribution of class 2 <i>de novo</i> CpGs by cohort with the matching distribution of CpG variants in ExAC for comparison. Allele frequency distributions do not significantly differ (<i>P</i>=0.14; Wilcoxon rank sum test). Error bars represent 95% confidence intervals throughout (<b>a)</b> – (<b>c</b>). ID/DD, intellectual disability / developmental delay; ASD, autism spectrum disorder.</div>
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<div class="figure-caption-contents">Properties of class 2 <i>de novo</i> variants. (<b>a</b>) The proportion of <i>de novo</i> variants across each cohort split between class 1 (left) and class 2 (right) with CpG variants marked in black. Class 2 <i>de novo</i> variants are strongly enriched for CpG variants (<i>P</i> < 10<sup>−20</sup>). The corresponding figure using the non-psychiatric version of ExAC can be found in Supplementary Figure 2. (<b>b</b>) Expected recurrence rate (rate of class 2 <i>de novo</i> variants across ID/DD, ASD, and unaffected ASD siblings) given the sample size of the reference dataset. The red dot indicates the observed recurrence rate of the non-psychiatric version of ExAC. (<b>c</b>) Allele frequency distribution of class 2 <i>de novo</i> CpGs by cohort with the matching distribution of CpG variants in ExAC for comparison. Allele frequency distributions do not significantly differ (<i>P</i>=0.14; Wilcoxon rank sum test). Error bars represent 95% confidence intervals throughout (<b>a)</b> – (<b>c</b>). ID/DD, intellectual disability / developmental delay; ASD, autism spectrum disorder.</div>
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|
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|
||
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|
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|
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|
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|
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|
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<strong class="figure-label">
|
||
<p> Figure 2 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Properties of class 2 <i> de novo </i> variants. ( <b> a </b> ) The proportion of… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
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<figcaption id="figure-caption-3" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
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<strong class="figure-label">
|
||
Figure 2
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Properties of class 2 <i>de novo</i> variants. (<b>a</b>) The proportion of <i>de novo</i> variants across each cohort split between class 1 (left) and class 2 (right) with CpG variants marked in black. Class 2 <i>de novo</i> variants are strongly enriched for CpG variants (<i>P</i> < 10<sup>−20</sup>). The corresponding figure using the non-psychiatric version of ExAC can be found in Supplementary Figure 2. (<b>b</b>) Expected recurrence rate (rate of class 2 <i>de novo</i> variants across ID/DD, ASD, and unaffected ASD siblings) given the sample size of the reference dataset. The red dot indicates the observed recurrence rate of the non-psychiatric version of ExAC. (<b>c</b>) Allele frequency distribution of class 2 <i>de novo</i> CpGs by cohort with the matching distribution of CpG variants in ExAC for comparison. Allele frequency distributions do not significantly differ (<i>P</i>=0.14; Wilcoxon rank sum test). Error bars represent 95% confidence intervals throughout (<b>a)</b> – (<b>c</b>). ID/DD, intellectual disability / developmental delay; ASD, autism spectrum disorder.</div>
|
||
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|
||
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|
||
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|
||
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|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e3c/5496244/59be54856ecd/nihms845776f3a.jpg"
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|
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data-image-alt="Figure 3"
|
||
data-pmc-id="PMC5496244"
|
||
data-figure-id="F3">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
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id="article-image-4"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e3c/5496244/20258d10a71d/nihms845776f3a.gif"
|
||
alt="Figure 3" />
|
||
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|
||
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|
||
<strong class="figure-label">
|
||
<p> Figure 3 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Partitioning the rate of <i> de… </i> </p></div>
|
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|
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|
||
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|
||
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|
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|
||
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||
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<strong class="figure-label">
|
||
<p> Figure 3 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Partitioning the rate of <i> de novo </i> variants per exome by class 1, class… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
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|
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<figcaption id="figure-caption-4" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
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<strong class="figure-label">
|
||
Figure 3
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Partitioning the rate of <i>de novo</i> variants per exome by class 1, class 2, and pLI. Within each grouping, the rate – variants per individual – is shown for ID/DD (left), ASD (middle), and unaffected ASD siblings (right) with the number of individuals labeled in the legends. (<b>a</b>) Rate of <i>de novo</i> synonymous variants per exome partitioned into class 2 (middle) and class 1 (right). No significant difference was observed for any grouping of <i>de novo</i> synonymous variants. (<b>b</b>) Rate of <i>de novo</i> PTVs per exome partitioned into class 2 (middle) and class 1 (right). Only class 1 <i>de novo</i> PTVs in ID/DD and ASD show association when compared to unaffected ASD siblings. (<b>c</b>) Rate of class 2 <i>de novo</i> PTVs broken by different ExAC global allele frequency (AF) thresholds: singleton (observed once; left), AF < 0.0001 (middle), and AF < 0.001 (right). (<b>d</b>) Rate of class 1 <i>de novo</i> PTVs partitioned into class 1 <i>de novo</i> PTVs in pLI ≥ 0.9 genes (right), and class 1 <i>de novo</i> PTVs in pLI < 0.9 genes (middle). The entire observed association for <i>de novo</i> PTVs resides in class 1 <i>de novo</i> PTVs in pLI ≥ 0.9 genes. For all such analyses, the rate ratio and significance were calculated by comparing the rate for ID/DD and ASD to the rate in unaffected ASD siblings using a two-sided Poisson exact test for synonymous variants and one-sided for the remainder (Online Methods). Error bars represent 95% confidence intervals throughout (<b>a)</b> – (<b>d</b>). See Supplementary Fig. 3 for the corresponding figures using the non-psychiatric version of ExAC. ID/DD, intellectual disability / developmental delay; ASD, autism spectrum disorder; PTV, protein truncating variant; pLI, probability of loss-of-function intolerance; NS, not significant.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
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|
||
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|
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|
||
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|
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href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e3c/5496244/5073c065858b/nihms845776f3b.jpg"
|
||
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|
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|
||
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|
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|
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|
||
data-image-alt="Figure 3"
|
||
data-pmc-id="PMC5496244"
|
||
data-figure-id="F3">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-5"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e3c/5496244/20258d10a71d/nihms845776f3a.gif"
|
||
alt="Figure 3" />
|
||
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|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="800">
|
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|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 3 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Partitioning the rate of <i> de… </i> </p></div>
|
||
|
||
|
||
|
||
|
||
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|
||
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|
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|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 3 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Partitioning the rate of <i> de novo </i> variants per exome by class 1, class… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
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<figcaption id="figure-caption-5" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
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|
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|
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|
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|
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<strong class="figure-label">
|
||
Figure 3
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Partitioning the rate of <i>de novo</i> variants per exome by class 1, class 2, and pLI. Within each grouping, the rate – variants per individual – is shown for ID/DD (left), ASD (middle), and unaffected ASD siblings (right) with the number of individuals labeled in the legends. (<b>a</b>) Rate of <i>de novo</i> synonymous variants per exome partitioned into class 2 (middle) and class 1 (right). No significant difference was observed for any grouping of <i>de novo</i> synonymous variants. (<b>b</b>) Rate of <i>de novo</i> PTVs per exome partitioned into class 2 (middle) and class 1 (right). Only class 1 <i>de novo</i> PTVs in ID/DD and ASD show association when compared to unaffected ASD siblings. (<b>c</b>) Rate of class 2 <i>de novo</i> PTVs broken by different ExAC global allele frequency (AF) thresholds: singleton (observed once; left), AF < 0.0001 (middle), and AF < 0.001 (right). (<b>d</b>) Rate of class 1 <i>de novo</i> PTVs partitioned into class 1 <i>de novo</i> PTVs in pLI ≥ 0.9 genes (right), and class 1 <i>de novo</i> PTVs in pLI < 0.9 genes (middle). The entire observed association for <i>de novo</i> PTVs resides in class 1 <i>de novo</i> PTVs in pLI ≥ 0.9 genes. For all such analyses, the rate ratio and significance were calculated by comparing the rate for ID/DD and ASD to the rate in unaffected ASD siblings using a two-sided Poisson exact test for synonymous variants and one-sided for the remainder (Online Methods). Error bars represent 95% confidence intervals throughout (<b>a)</b> – (<b>d</b>). See Supplementary Fig. 3 for the corresponding figures using the non-psychiatric version of ExAC. ID/DD, intellectual disability / developmental delay; ASD, autism spectrum disorder; PTV, protein truncating variant; pLI, probability of loss-of-function intolerance; NS, not significant.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
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|
||
|
||
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|
||
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|
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|
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|
||
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|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e3c/5496244/d30e26cc3106/nihms845776f3c.jpg"
|
||
itemprop="contentUrl"
|
||
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|
||
role="button"
|
||
data-image-width="800"
|
||
data-image-height="543"
|
||
data-image-alt="Figure 3"
|
||
data-pmc-id="PMC5496244"
|
||
data-figure-id="F3">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-6"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e3c/5496244/20258d10a71d/nihms845776f3a.gif"
|
||
alt="Figure 3" />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="800">
|
||
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|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 3 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Partitioning the rate of <i> de… </i> </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
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|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 3 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Partitioning the rate of <i> de novo </i> variants per exome by class 1, class… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-6" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
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|
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|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 3
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Partitioning the rate of <i>de novo</i> variants per exome by class 1, class 2, and pLI. Within each grouping, the rate – variants per individual – is shown for ID/DD (left), ASD (middle), and unaffected ASD siblings (right) with the number of individuals labeled in the legends. (<b>a</b>) Rate of <i>de novo</i> synonymous variants per exome partitioned into class 2 (middle) and class 1 (right). No significant difference was observed for any grouping of <i>de novo</i> synonymous variants. (<b>b</b>) Rate of <i>de novo</i> PTVs per exome partitioned into class 2 (middle) and class 1 (right). Only class 1 <i>de novo</i> PTVs in ID/DD and ASD show association when compared to unaffected ASD siblings. (<b>c</b>) Rate of class 2 <i>de novo</i> PTVs broken by different ExAC global allele frequency (AF) thresholds: singleton (observed once; left), AF < 0.0001 (middle), and AF < 0.001 (right). (<b>d</b>) Rate of class 1 <i>de novo</i> PTVs partitioned into class 1 <i>de novo</i> PTVs in pLI ≥ 0.9 genes (right), and class 1 <i>de novo</i> PTVs in pLI < 0.9 genes (middle). The entire observed association for <i>de novo</i> PTVs resides in class 1 <i>de novo</i> PTVs in pLI ≥ 0.9 genes. For all such analyses, the rate ratio and significance were calculated by comparing the rate for ID/DD and ASD to the rate in unaffected ASD siblings using a two-sided Poisson exact test for synonymous variants and one-sided for the remainder (Online Methods). Error bars represent 95% confidence intervals throughout (<b>a)</b> – (<b>d</b>). See Supplementary Fig. 3 for the corresponding figures using the non-psychiatric version of ExAC. ID/DD, intellectual disability / developmental delay; ASD, autism spectrum disorder; PTV, protein truncating variant; pLI, probability of loss-of-function intolerance; NS, not significant.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
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|
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|
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|
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|
||
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|
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|
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|
||
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|
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|
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|
||
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|
||
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|
||
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|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
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|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e3c/5496244/20258d10a71d/nihms845776f3a.gif"
|
||
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|
||
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|
||
|
||
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|
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|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 3 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Partitioning the rate of <i> de… </i> </p></div>
|
||
|
||
|
||
|
||
|
||
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|
||
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|
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|
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|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 3 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Partitioning the rate of <i> de novo </i> variants per exome by class 1, class… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
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|
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<figcaption id="figure-caption-7" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
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|
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|
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|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 3
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Partitioning the rate of <i>de novo</i> variants per exome by class 1, class 2, and pLI. Within each grouping, the rate – variants per individual – is shown for ID/DD (left), ASD (middle), and unaffected ASD siblings (right) with the number of individuals labeled in the legends. (<b>a</b>) Rate of <i>de novo</i> synonymous variants per exome partitioned into class 2 (middle) and class 1 (right). No significant difference was observed for any grouping of <i>de novo</i> synonymous variants. (<b>b</b>) Rate of <i>de novo</i> PTVs per exome partitioned into class 2 (middle) and class 1 (right). Only class 1 <i>de novo</i> PTVs in ID/DD and ASD show association when compared to unaffected ASD siblings. (<b>c</b>) Rate of class 2 <i>de novo</i> PTVs broken by different ExAC global allele frequency (AF) thresholds: singleton (observed once; left), AF < 0.0001 (middle), and AF < 0.001 (right). (<b>d</b>) Rate of class 1 <i>de novo</i> PTVs partitioned into class 1 <i>de novo</i> PTVs in pLI ≥ 0.9 genes (right), and class 1 <i>de novo</i> PTVs in pLI < 0.9 genes (middle). The entire observed association for <i>de novo</i> PTVs resides in class 1 <i>de novo</i> PTVs in pLI ≥ 0.9 genes. For all such analyses, the rate ratio and significance were calculated by comparing the rate for ID/DD and ASD to the rate in unaffected ASD siblings using a two-sided Poisson exact test for synonymous variants and one-sided for the remainder (Online Methods). Error bars represent 95% confidence intervals throughout (<b>a)</b> – (<b>d</b>). See Supplementary Fig. 3 for the corresponding figures using the non-psychiatric version of ExAC. ID/DD, intellectual disability / developmental delay; ASD, autism spectrum disorder; PTV, protein truncating variant; pLI, probability of loss-of-function intolerance; NS, not significant.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
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|
||
|
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|
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|
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|
||
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|
||
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|
||
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|
||
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|
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|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e3c/5496244/36aae15c3a83/nihms845776f4a.gif"
|
||
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|
||
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|
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|
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<strong class="figure-label">
|
||
<p> Figure 4 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Phenotypic associations for ASD <i> de… </i> </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
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<p> Figure 4 </p>
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<div class="figure-caption-contents"><p> Phenotypic associations for ASD <i> de novo </i> PTVs. ( <b> a </b> ) IQ distribution of… </p></div>
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Figure 4
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<div class="figure-caption-contents">Phenotypic associations for ASD <i>de novo</i> PTVs. (<b>a</b>) IQ distribution of class 1 <i>de novo</i> PTVs in pLI ≥ 0.9 genes (red) and remaining <i>de novo</i> PTVs (class 2 and class 1 pLI < 0.9; grey) in 393 individuals with ASD with a measured full-scale IQ. Dots indicate the rate in unaffected ASD siblings for their respective categories of <i>de novo</i> PTVs. <i>P</i>-values calculated using Poisson regression. Only class 1 <i>de novo</i> PTVs show association with full-scale IQ. (<b>b</b>) Rate of class 1 <i>de novo</i> PTVs (left set) and the remaining <i>de novo</i> PTVs (class 2 & class 1 in LoF-tolerant genes, right set) in ID/DD (left two bars) and ASD (middle four bars) split by sex and ID with the number of individuals labeled in the legends. Error bars represent 95% confidence intervals, and <i>P</i>-values were calculated using one-side Poisson exact tests comparing to unaffected ASD siblings. ASD, autism spectrum disorder; PTV, protein truncating variant; pLI, probability of loss-of-function intolerance.</div>
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<div class="figure-caption-contents"><p> Phenotypic associations for ASD <i> de… </i> </p></div>
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<p> Figure 4 </p>
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<div class="figure-caption-contents"><p> Phenotypic associations for ASD <i> de novo </i> PTVs. ( <b> a </b> ) IQ distribution of… </p></div>
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Figure 4
|
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</strong>
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||
|
||
<div class="figure-caption-contents">Phenotypic associations for ASD <i>de novo</i> PTVs. (<b>a</b>) IQ distribution of class 1 <i>de novo</i> PTVs in pLI ≥ 0.9 genes (red) and remaining <i>de novo</i> PTVs (class 2 and class 1 pLI < 0.9; grey) in 393 individuals with ASD with a measured full-scale IQ. Dots indicate the rate in unaffected ASD siblings for their respective categories of <i>de novo</i> PTVs. <i>P</i>-values calculated using Poisson regression. Only class 1 <i>de novo</i> PTVs show association with full-scale IQ. (<b>b</b>) Rate of class 1 <i>de novo</i> PTVs (left set) and the remaining <i>de novo</i> PTVs (class 2 & class 1 in LoF-tolerant genes, right set) in ID/DD (left two bars) and ASD (middle four bars) split by sex and ID with the number of individuals labeled in the legends. Error bars represent 95% confidence intervals, and <i>P</i>-values were calculated using one-side Poisson exact tests comparing to unaffected ASD siblings. ASD, autism spectrum disorder; PTV, protein truncating variant; pLI, probability of loss-of-function intolerance.</div>
|
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<span class="docsum-authors full-authors">Boonsawat P, Asadollahi R, Niedrist D, Steindl K, Begemann A, Joset P, Bhoj EJ, Li D, Zackai E, Vetro A, Barba C, Guerrini R, Whalen S, Keren B, Khan A, Jing D, Palomares Bralo M, Rikeros Orozco E, Hao Q, Schlott Kristiansen B, Zheng B, Donnelly D, Clowes V, Zweier M, Papik M, Siegel G, Sabatino V, Mocera M, Horn AHC, Sticht H, Rauch A.</span>
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Developmental D.M.N.S.Y. & Investigators P. Morbidity mortality weekly report. Surveillance summaries. Vol. 63. Washington, DC: 2014. Prevalence of autism spectrum disorder among children aged 8 years-autism and developmental disabilities monitoring network 11 sites, United States, 2010; p. 1. 2002.
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data-ga-action="mesh_term"
|
||
data-ga-label="Exome / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Exome"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Exome / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Exome/genetics"[MeSH]"
|
||
data-ga-category="search"
|
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data-ga-action="add_to_search"
|
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data-ga-label=""Exome/genetics"[MeSH]"
|
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href="#">
|
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Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Genetic Predisposition to Disease / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-2"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Genetic Predisposition to Disease / genetics
|
||
</button><div id="keyword-actions-mesh-terms-2"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Genetic Predisposition to Disease / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Genetic+Predisposition+to+Disease%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Genetic+Predisposition+to+Disease%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Genetic Predisposition to Disease/genetics"[MeSH]"
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data-ga-category="search"
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data-ga-action="mesh_term"
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data-ga-label="Genetic Predisposition to Disease / genetics">
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Search in PubMed
|
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Genetic+Predisposition+to+Disease"
|
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data-ga-category="search_mesh"
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data-ga-action="mesh_term_link"
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Search in MeSH
|
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</a></li><li><a class="add-to-search-link dropdown-block-link"
|
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data-search-term=""Genetic Predisposition to Disease/genetics"[MeSH]"
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Add to Search
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
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aria-label="Toggle dropdown menu for keyword Genetic Variation / genetics*"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-major-3"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Genetic Variation / genetics*
|
||
</button><div id="keyword-actions-mesh-terms-major-3"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Genetic Variation / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Genetic+Variation%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Genetic+Variation%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Genetic Variation/genetics"[MAJR]"
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data-ga-category="search"
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data-ga-action="mesh_term"
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data-ga-label="Genetic Variation / genetics*">
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
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ref="linksrc=search_in_mesh_link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Genetic+Variation"
|
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data-ga-category="search_mesh"
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data-ga-action="mesh_term_link"
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data-ga-label="Genetic Variation / genetics*">
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Search in MeSH
|
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</a></li><li><a class="add-to-search-link dropdown-block-link"
|
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ref="linksrc=add_to_search_link"
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role="button"
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data-search-term=""Genetic Variation/genetics"[MAJR]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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href="#">
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
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aria-label="Toggle dropdown menu for keyword Humans"
|
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tabindex="0"
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aria-controls="keyword-actions-mesh-terms-4"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Humans
|
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</button><div id="keyword-actions-mesh-terms-4"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
||
aria-label="Dropdown menu for keyword Humans"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Humans"[MeSH]"
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Search in PubMed
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Intellectual Disability / genetics"
|
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tabindex="0"
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aria-controls="keyword-actions-mesh-terms-5"
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Intellectual Disability / genetics
|
||
</button><div id="keyword-actions-mesh-terms-5"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Intellectual Disability / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Intellectual+Disability%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Intellectual+Disability%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Intellectual Disability/genetics"[MeSH]"
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data-ga-category="search"
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data-ga-action="mesh_term"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Intellectual+Disability"
|
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data-ga-action="mesh_term_link"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
|
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data-search-term=""Intellectual Disability/genetics"[MeSH]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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href="#">
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
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aria-label="Toggle dropdown menu for keyword Neurodevelopmental Disorders / genetics*"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-major-6"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Neurodevelopmental Disorders / genetics*
|
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</button><div id="keyword-actions-mesh-terms-major-6"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Neurodevelopmental Disorders / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Neurodevelopmental+Disorders%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Neurodevelopmental+Disorders%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Neurodevelopmental Disorders/genetics"[MAJR]"
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data-ga-category="search"
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data-ga-action="mesh_term"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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ref="linksrc=search_in_mesh_link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Neurodevelopmental+Disorders"
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data-ga-category="search_mesh"
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data-ga-action="mesh_term_link"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
|
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ref="linksrc=add_to_search_link"
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role="button"
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data-search-term=""Neurodevelopmental Disorders/genetics"[MAJR]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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data-ga-label=""Neurodevelopmental Disorders/genetics"[MAJR]"
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href="#">
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Phenotype"
|
||
tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-7"
|
||
aria-expanded="false"
|
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data-pinger-ignore>
|
||
Phenotype
|
||
</button><div id="keyword-actions-mesh-terms-7"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
||
aria-label="Dropdown menu for keyword Phenotype"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Phenotype%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Phenotype%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Phenotype"[MeSH]"
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data-ga-category="search"
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data-ga-action="mesh_term"
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data-ga-label="Phenotype">
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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|
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Phenotype"
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data-ga-category="search_mesh"
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data-ga-action="mesh_term_link"
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data-ga-label="Phenotype">
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Search in MeSH
|
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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ref="linksrc=add_to_search_link"
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role="button"
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data-search-term=""Phenotype"[MeSH]"
|
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data-ga-category="search"
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data-ga-action="add_to_search"
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data-ga-label=""Phenotype"[MeSH]"
|
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href="#">
|
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Add to Search
|
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</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div id="related-links" class="related-links">
|
||
<h2 class="title">
|
||
Related information
|
||
</h2>
|
||
|
||
<ul class="related-links-list"><li><a title="PubMed links associated with Books" href="https://www.ncbi.nlm.nih.gov/books?linkname=pubmed_books_refs&from_uid=28191890"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28191890&ordinalpos=1&linkpos=1">
|
||
Cited in Books
|
||
</a></li><li><a title="Clinical variations associated with publication" href="https://www.ncbi.nlm.nih.gov/clinvar?linkname=pubmed_clinvar&from_uid=28191890"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28191890&ordinalpos=1&linkpos=2">
|
||
ClinVar
|
||
</a></li><li><a title="Link to related Genes" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene&from_uid=28191890"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28191890&ordinalpos=1&linkpos=3">
|
||
Gene
|
||
</a></li><li><a title="Related information in MedGen" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen&from_uid=28191890"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28191890&ordinalpos=1&linkpos=4">
|
||
MedGen
|
||
</a></li><li><a title="Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen_bookshelf_cited&from_uid=28191890"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28191890&ordinalpos=1&linkpos=5">
|
||
MedGen (Bookshelf cited)
|
||
</a></li><li><a title="Link to Protein RefSeqs" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein_refseq&from_uid=28191890"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28191890&ordinalpos=1&linkpos=6">
|
||
Protein (RefSeq)
|
||
</a></li><li><a title="Related dbGaP record" href="https://www.ncbi.nlm.nih.gov/gap?linkname=pubmed_gap&from_uid=28191890"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28191890&ordinalpos=1&linkpos=7">
|
||
dbGaP
|
||
</a></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div id="grants" class="grants">
|
||
<h2 class="title">
|
||
Grants and funding
|
||
</h2>
|
||
<div class="grants-list"><ul id="grants-head-list"><li class="grant-item"><a
|
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title="All articles for grant K01 MH099286/MH/NIMH NIH HHS/United States"
|
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href="/?term=K01+MH099286%2FMH%2FNIMH+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&sort=date&sort_order=desc"
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>
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K01 MH099286/MH/NIMH NIH HHS/United States
|
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</a></li><li class="grant-item"><a
|
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title="All articles for grant R01 MH097849/MH/NIMH NIH HHS/United States"
|
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href="/?term=R01+MH097849%2FMH%2FNIMH+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&sort=date&sort_order=desc"
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ref="linksrc=grant_link"
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data-ga-category="search"
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>
|
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R01 MH097849/MH/NIMH NIH HHS/United States
|
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</a></li><li class="grant-item"><a
|
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title="All articles for grant U01 MH100229/MH/NIMH NIH HHS/United States"
|
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href="/?term=U01+MH100229%2FMH%2FNIMH+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&sort=date&sort_order=desc"
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>
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U01 MH100229/MH/NIMH NIH HHS/United States
|
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</a></li><li class="grant-item"><a
|
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title="All articles for grant U01 MH111660/MH/NIMH NIH HHS/United States"
|
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href="/?term=U01+MH111660%2FMH%2FNIMH+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&sort=date&sort_order=desc"
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>
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U01 MH111660/MH/NIMH NIH HHS/United States
|
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</a></li><li class="grant-item"><a
|
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title="All articles for grant R56 MH097849/MH/NIMH NIH HHS/United States"
|
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href="/?term=R56+MH097849%2FMH%2FNIMH+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&sort=date&sort_order=desc"
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>
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R56 MH097849/MH/NIMH NIH HHS/United States
|
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</a></li></ul><ul id="grants-tail-list" class="list-tail"><li class="grant-item"><a
|
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title="All articles for grant U01 MH100209/MH/NIMH NIH HHS/United States"
|
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href="/?term=U01+MH100209%2FMH%2FNIMH+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&sort=date&sort_order=desc"
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>
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U01 MH100209/MH/NIMH NIH HHS/United States
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</a></li><li class="grant-item"><a
|
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title="All articles for grant T32 HG002295/HG/NHGRI NIH HHS/United States"
|
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href="/?term=T32+HG002295%2FHG%2FNHGRI+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&sort=date&sort_order=desc"
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>
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T32 HG002295/HG/NHGRI NIH HHS/United States
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</a></li><li class="grant-item"><a
|
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title="All articles for grant U01 MH100239/MH/NIMH NIH HHS/United States"
|
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href="/?term=U01+MH100239%2FMH%2FNIMH+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&sort=date&sort_order=desc"
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>
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U01 MH100239/MH/NIMH NIH HHS/United States
|
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</a></li><li class="grant-item"><a
|
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title="All articles for grant U01 MH111658/MH/NIMH NIH HHS/United States"
|
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href="/?term=U01+MH111658%2FMH%2FNIMH+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&sort=date&sort_order=desc"
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ref="linksrc=grant_link"
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