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<meta name="description" content="We systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed resequencing using multiple independent technologies. We identified 7.5% of de n …"><meta name="keywords" content="pmid:28714951, PMC5672813, doi:10.1038/nn.4598, Elaine T Lim, Mohammed Uddin, Christopher A Walsh, Autism Spectrum Disorder / genetics*, Databases, Genetic / trends*, Genetic Predisposition to Disease / genetics, Genetic Variation / genetics*, Humans, Mosaicism, Mutation, Missense / genetics*, Zygote / physiology, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/28714951/"><meta property="og:description" content="We systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed resequencing using multiple independent technologies. We identified 7.5% of de n …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/28714951/"><meta name="twitter:description" content="We systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed resequencing using multiple independent technologies. We identified 7.5% of de n …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">
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||
<span class="search-input-link user-guide-link" role="navigation" aria-label="User guide">
|
||
<a href="/help/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="user_guide">
|
||
User Guide
|
||
</a>
|
||
</span>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</form>
|
||
|
||
|
||
<div id="article-page-header">
|
||
<div id="article-top-actions-bar" class="article-top-actions-bar">
|
||
<div class="inner-wrap">
|
||
<div class="actions-container">
|
||
<div class="return-to-search">
|
||
|
||
|
||
</div>
|
||
|
||
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
|
||
<button id="save-results-panel-trigger"
|
||
type="button"
|
||
class="save-results save-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="save-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="open">
|
||
Save
|
||
</button><button id="email-results-panel-trigger"
|
||
type="button"
|
||
class="email-results email-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="email-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="open">
|
||
Email
|
||
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
|
||
type="button"
|
||
class="trigger more-actions-trigger"
|
||
ref="linksrc=show_moreactions_btn"
|
||
aria-label="Send to"
|
||
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
|
||
href="#"
|
||
role="button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="clipboard"
|
||
data-ga-label="send">
|
||
Clipboard
|
||
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F28714951%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%2F28714951%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="obOgltIggYQdJMrYpcGgAboAPvVFSEp0FYylYjbCQzDHDdxO2vji4jUenzDRLfXk">
|
||
</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="obOgltIggYQdJMrYpcGgAboAPvVFSEp0FYylYjbCQzDHDdxO2vji4jUenzDRLfXk">
|
||
|
||
|
||
|
||
<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="obOgltIggYQdJMrYpcGgAboAPvVFSEp0FYylYjbCQzDHDdxO2vji4jUenzDRLfXk">
|
||
|
||
<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: 28714951 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 28714951"/>
|
||
<input type="hidden" name="email-subject-hash" value="a3c95e33bdcf5b9389a779fb41d617bb636e560bc5f6e98ad47a18bcf03d713f"/>
|
||
</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="obOgltIggYQdJMrYpcGgAboAPvVFSEp0FYylYjbCQzDHDdxO2vji4jUenzDRLfXk">
|
||
|
||
|
||
|
||
<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="obOgltIggYQdJMrYpcGgAboAPvVFSEp0FYylYjbCQzDHDdxO2vji4jUenzDRLfXk">
|
||
|
||
|
||
|
||
<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="obOgltIggYQdJMrYpcGgAboAPvVFSEp0FYylYjbCQzDHDdxO2vji4jUenzDRLfXk">
|
||
|
||
<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="obOgltIggYQdJMrYpcGgAboAPvVFSEp0FYylYjbCQzDHDdxO2vji4jUenzDRLfXk">
|
||
|
||
|
||
|
||
<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="obOgltIggYQdJMrYpcGgAboAPvVFSEp0FYylYjbCQzDHDdxO2vji4jUenzDRLfXk">
|
||
|
||
<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="28714951">
|
||
<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/nn.4598"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3094&itool=Abstract-def&log$=linkouticon&uid=28714951&db=pubmed&nlmid=9809671"
|
||
title="See full text options at Nature Publishing Group"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Nature Publishing Group"
|
||
data-ga-label="28714951"
|
||
><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/28714951/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=28714951&db=pubmed&nlmid=9809671"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="28714951"
|
||
><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="/28714951/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/28714951/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="28714951" 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%2F28714951%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="obOgltIggYQdJMrYpcGgAboAPvVFSEp0FYylYjbCQzDHDdxO2vji4jUenzDRLfXk"><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">
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Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
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data-ga-label="Sonia N Kim">Sonia N Kim</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics and Genomics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA." href="#full-view-affiliation-1" ref="linksrc=author_aff">
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2
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA." href="#full-view-affiliation-3" ref="linksrc=author_aff">
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3
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1
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2
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA." href="#full-view-affiliation-3" ref="linksrc=author_aff">
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6
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA." href="#full-view-affiliation-7" ref="linksrc=author_aff">
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6
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9
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9
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9
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10
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10
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11
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12
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Grupo de Medicina Xenomica, CIBERER, Fundacion Publica Galega de Medicina Xenomica-SERGAS, Santiago de Compostela, Spain." href="#full-view-affiliation-13" ref="linksrc=author_aff">
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13
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia." href="#full-view-affiliation-14" ref="linksrc=author_aff">
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14
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6
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA." href="#full-view-affiliation-7" ref="linksrc=author_aff">
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7
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA." href="#full-view-affiliation-15" ref="linksrc=author_aff">
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15
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA." href="#full-view-affiliation-16" ref="linksrc=author_aff">
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16
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA." href="#full-view-affiliation-17" ref="linksrc=author_aff">
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17
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Christina M Hultman">Christina M Hultman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden." href="#full-view-affiliation-18" ref="linksrc=author_aff">
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18
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Lauren A Weiss">Lauren A Weiss</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Psychiatry and Institute for Human Genetics, University of California, San Francisco, San Francisco, California, USA." href="#full-view-affiliation-19" ref="linksrc=author_aff">
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19
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Menachem Fromer">Menachem Fromer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai,New York, New York, USA." href="#full-view-affiliation-6" ref="linksrc=author_aff">
|
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6
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA." href="#full-view-affiliation-7" ref="linksrc=author_aff">
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7
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA." href="#full-view-affiliation-20" ref="linksrc=author_aff">
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20
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21
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data-ga-label="Christine M Freitag">Christine M Freitag</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Autism Research and Intervention Center of Excellence, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany." href="#full-view-affiliation-21" ref="linksrc=author_aff">
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21
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3
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wyss Institute for Biologically Inspired Engineering, Harvard University, Boston, Massachusetts, USA." href="#full-view-affiliation-4" ref="linksrc=author_aff">
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4
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data-ga-label="Stephen W Scherer">Stephen W Scherer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada." href="#full-view-affiliation-22" ref="linksrc=author_aff">
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22
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Program in Genetics and Genome Biology (GGB), The Hospital for Sick Children, Toronto, Ontario, Canada." href="#full-view-affiliation-23" ref="linksrc=author_aff">
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23
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada." href="#full-view-affiliation-24" ref="linksrc=author_aff">
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24
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada." href="#full-view-affiliation-25" ref="linksrc=author_aff">
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25
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data-ga-label="Joseph D Buxbaum">Joseph D Buxbaum</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai,New York, New York, USA." href="#full-view-affiliation-6" ref="linksrc=author_aff">
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6
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA." href="#full-view-affiliation-7" ref="linksrc=author_aff">
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7
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
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15
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA." href="#full-view-affiliation-16" ref="linksrc=author_aff">
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16
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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1
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Departments of Pediatrics and Neurology, Harvard Medical School, Boston, Massachusetts, USA." href="#full-view-affiliation-2" ref="linksrc=author_aff">
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2
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA." href="#full-view-affiliation-3" ref="linksrc=author_aff">
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3
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</a></sup></span>
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href="/?term=Anney+R"
|
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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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href="/?term=Ferrero+GB"
|
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|
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|
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|
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|
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href="/?term=Fromer+M"
|
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data-ga-label="Menachem Fromer">Menachem Fromer</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Gargus+J"
|
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|
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|
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data-ga-label="Dan Geschwind">Dan Geschwind</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Gill+M"
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data-ga-label="Michael Gill">Michael Gill</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=G%C3%B3mez-Guerrero+L"
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|
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data-ga-label="Lorena Gómez-Guerrero">Lorena Gómez-Guerrero</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Hansen-Kiss+E"
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|
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data-ga-label="Emily Hansen-Kiss">Emily Hansen-Kiss</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=He+X"
|
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ref="linksrc=author_name_link"
|
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|
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data-ga-label="Xin He">Xin He</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Herman+G"
|
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ref="linksrc=author_name_link"
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|
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data-ga-label="Gail Herman">Gail Herman</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Hertz-Picciotto+I"
|
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ref="linksrc=author_name_link"
|
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|
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data-ga-label="Irva Hertz-Picciotto">Irva Hertz-Picciotto</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Hultman+C"
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|
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data-ga-label="Christina Hultman">Christina Hultman</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Bozenna Iliadou">Bozenna Iliadou</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Ionita-Laza+I"
|
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|
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|
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data-ga-label="Iuliana Ionita-Laza">Iuliana Ionita-Laza</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Jugessur+A"
|
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|
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|
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data-ga-label="Anil Jugessur">Anil Jugessur</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Knudsen+GP"
|
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|
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data-ga-label="Gun Peggy Knudsen">Gun Peggy Knudsen</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Kolevzon+A"
|
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ref="linksrc=author_name_link"
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|
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data-ga-label="Alexander Kolevzon">Alexander Kolevzon</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Kosmicki+J"
|
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ref="linksrc=author_name_link"
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|
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data-ga-label="Jack Kosmicki">Jack Kosmicki</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Kushima+I"
|
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data-ga-label="Itaru Kushima">Itaru Kushima</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Lee+SL"
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ref="linksrc=author_name_link"
|
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|
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href="/?term=Lehner+T"
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data-ga-label="Thomas Lehner">Thomas Lehner</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Lennertz+S"
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data-ga-label="Savannah Lennertz">Savannah Lennertz</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Lim+E"
|
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data-ga-label="Elaine Lim">Elaine Lim</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Maciel+P"
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data-ga-label="Patricia Maciel">Patricia Maciel</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Magnus+P"
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data-ga-label="Per Magnus">Per Magnus</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Manoach+D"
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href="/?term=Minshew+N"
|
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href="/?term=Morrow+E"
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href="/?term=Mulle+J"
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data-ga-label="Aarno Palotie">Aarno Palotie</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Pericak-Vance+M"
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><sup class="key">12</sup> Grupo de Medicina Xenomica, Universidade de Santiago de Compostela, Centro Nacional de Genotipado-Plataforma de Recursos Biomoleculares y Bioinformaticos-Instituto de Salud Carlos III (CeGen-PRB2-ISCIII), Santiago de Compostela, Spain.</li>
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|
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<li data-affiliation-id="full-view-affiliation-17"
|
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|
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|
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><sup class="key">18</sup> Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.</li>
|
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|
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|
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><sup class="key">19</sup> Department of Psychiatry and Institute for Human Genetics, University of California, San Francisco, San Francisco, California, USA.</li>
|
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|
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|
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|
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><sup class="key">20</sup> Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.</li>
|
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|
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><sup class="key">21</sup> Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Autism Research and Intervention Center of Excellence, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany.</li>
|
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|
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|
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><sup class="key">22</sup> The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.</li>
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|
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|
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PMID:
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<strong class="current-id" title="PubMed ID">28714951</strong>
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<div class="short-view" id="short-view-heading">
|
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|
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|
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<h1 class="heading-title">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
|
||
|
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|
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|
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|
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</h1>
|
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|
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|
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|
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<div class="short-citation">
|
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|
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<span class="authors-list-item "><span class="full-name">Elaine T Lim</span><span class="citation-separator"> et al.</span></span>
|
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|
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|
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</span>
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|
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<span class="citation-journal">
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Nat Neurosci<span class="citation-separator">.</span>
|
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<span class="citation-year">2017 Sep</span><span class="citation-separator">.</span>
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</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2017 Sep;20(9):1217-1224.</span>
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<span class="citation-doi">
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doi: 10.1038/nn.4598.
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</span>
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<span class="secondary-date">
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Epub 2017 Jul 17.
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</span>
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|
||
data-ga-label="Menachem Fromer">Menachem Fromer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai,New York, New York, USA." href="#short-view-affiliation-6" ref="linksrc=author_aff">
|
||
6
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA." href="#short-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA." href="#short-view-affiliation-20" ref="linksrc=author_aff">
|
||
20
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Chiocchetti+AG&cauthor_id=28714951"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Andreas G Chiocchetti">Andreas G Chiocchetti</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Autism Research and Intervention Center of Excellence, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany." href="#short-view-affiliation-21" ref="linksrc=author_aff">
|
||
21
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Freitag+CM&cauthor_id=28714951"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Christine M Freitag">Christine M Freitag</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Autism Research and Intervention Center of Excellence, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany." href="#short-view-affiliation-21" ref="linksrc=author_aff">
|
||
21
|
||
</a></sup><span class="semicolon">; </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Autism+Sequencing+Consortium%5BCorporate+Author%5D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Autism Sequencing Consortium">Autism Sequencing Consortium</a><span class="semicolon">; </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Church+GM&cauthor_id=28714951"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="George M Church">George M Church</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA." href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wyss Institute for Biologically Inspired Engineering, Harvard University, Boston, Massachusetts, USA." href="#short-view-affiliation-4" ref="linksrc=author_aff">
|
||
4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Scherer+SW&cauthor_id=28714951"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Stephen W Scherer">Stephen W Scherer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada." href="#short-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Program in Genetics and Genome Biology (GGB), The Hospital for Sick Children, Toronto, Ontario, Canada." href="#short-view-affiliation-23" ref="linksrc=author_aff">
|
||
23
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada." href="#short-view-affiliation-24" ref="linksrc=author_aff">
|
||
24
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada." href="#short-view-affiliation-25" ref="linksrc=author_aff">
|
||
25
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Buxbaum+JD&cauthor_id=28714951"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Joseph D Buxbaum">Joseph D Buxbaum</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai,New York, New York, USA." href="#short-view-affiliation-6" ref="linksrc=author_aff">
|
||
6
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA." href="#short-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA." href="#short-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA." href="#short-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Walsh+CA&cauthor_id=28714951"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Christopher A Walsh">Christopher A Walsh</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics and Genomics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Departments of Pediatrics and Neurology, Harvard Medical School, Boston, Massachusetts, USA." href="#short-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA." href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup></span>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="collaborations">
|
||
<h3 class="title">
|
||
|
||
Collaborators
|
||
|
||
</h3>
|
||
<ul class="group-list">
|
||
|
||
<li>
|
||
|
||
<strong class="title">Autism Sequencing Consortium</strong>:
|
||
|
||
|
||
|
||
|
||
<div class="authors-list">
|
||
<span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Aleksic+B"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Branko Aleksic">Branko Aleksic</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Anney+R"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Richard Anney">Richard Anney</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Barbosa+M"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Mafalda Barbosa">Mafalda Barbosa</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Barrett+J"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Jeffrey Barrett">Jeffrey Barrett</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Betancur+C"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Catalina Betancur">Catalina Betancur</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Bishop+S"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Somer Bishop">Somer Bishop</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Brusco+A"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Alfredo Brusco">Alfredo Brusco</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Buxbaum+JD"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Joseph D Buxbaum">Joseph D Buxbaum</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Carracedo+A"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Angel Carracedo">Angel Carracedo</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Chiocchetti+AG"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Andreas G Chiocchetti">Andreas G Chiocchetti</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Chung+BHY"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Brian H Y Chung">Brian H Y Chung</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Cook+E"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Edwin Cook">Edwin Cook</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Coon+H"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Hilary Coon">Hilary Coon</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Cutler+DJ"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="David J Cutler">David J Cutler</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Daly+M"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Mark Daly">Mark Daly</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=De+Rubeis+S"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Silvia De Rubeis">Silvia De Rubeis</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Doan+R"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Ryan Doan">Ryan Doan</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Fern%C3%A1ndez-Prieto+M"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Montserrat Fernández-Prieto">Montserrat Fernández-Prieto</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Ferrero+GB"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Giovanni Battista Ferrero">Giovanni Battista Ferrero</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Freitag+CM"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Christine M Freitag">Christine M Freitag</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Fromer+M"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Menachem Fromer">Menachem Fromer</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Gargus+J"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Jay Gargus">Jay Gargus</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Geschwind+D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Dan Geschwind">Dan Geschwind</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Gill+M"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Michael Gill">Michael Gill</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=G%C3%B3mez-Guerrero+L"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Lorena Gómez-Guerrero">Lorena Gómez-Guerrero</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Hansen-Kiss+E"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Emily Hansen-Kiss">Emily Hansen-Kiss</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=He+X"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Xin He">Xin He</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Herman+G"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Gail Herman">Gail Herman</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Hertz-Picciotto+I"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Irva Hertz-Picciotto">Irva Hertz-Picciotto</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Hultman+C"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Christina Hultman">Christina Hultman</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Iliadou+B"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Bozenna Iliadou">Bozenna Iliadou</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Ionita-Laza+I"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Iuliana Ionita-Laza">Iuliana Ionita-Laza</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Jugessur+A"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Anil Jugessur">Anil Jugessur</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Knudsen+GP"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Gun Peggy Knudsen">Gun Peggy Knudsen</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Kolevzon+A"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Alexander Kolevzon">Alexander Kolevzon</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Kosmicki+J"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
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data-ga-action="author_link"
|
||
data-ga-label="Jack Kosmicki">Jack Kosmicki</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Kushima+I"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Itaru Kushima">Itaru Kushima</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Lee+SL"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
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data-ga-action="author_link"
|
||
data-ga-label="S L Lee">S L Lee</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Lehner+T"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
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data-ga-action="author_link"
|
||
data-ga-label="Thomas Lehner">Thomas Lehner</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Lennertz+S"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Savannah Lennertz">Savannah Lennertz</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Lim+E"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Elaine Lim">Elaine Lim</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Maciel+P"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Patricia Maciel">Patricia Maciel</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Magnus+P"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Per Magnus">Per Magnus</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Manoach+D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Dara Manoach">Dara Manoach</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Minshew+N"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Nancy Minshew">Nancy Minshew</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Morrow+E"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Eric Morrow">Eric Morrow</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Mulle+J"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Jennifer Mulle">Jennifer Mulle</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Neale+B"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Benjamin Neale">Benjamin Neale</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Ozaki+N"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Norio Ozaki">Norio Ozaki</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Palotie+A"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Aarno Palotie">Aarno Palotie</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Parellada+M"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Mara Parellada">Mara Parellada</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Passos-Bueno+MR"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Maria Rita Passos-Bueno">Maria Rita Passos-Bueno</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Pericak-Vance+M"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Margaret Pericak-Vance">Margaret Pericak-Vance</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Persico+A"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Antonio Persico">Antonio Persico</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Pessah+I"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Isaac Pessah">Isaac Pessah</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Reichenberg+A"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Avi Reichenberg">Avi Reichenberg</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Reichert+J"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Jennifer Reichert">Jennifer Reichert</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Renieri+A"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Alessandra Renieri">Alessandra Renieri</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Robinson+E"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Elise Robinson">Elise Robinson</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Samocha+K"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Kaitlin Samocha">Kaitlin Samocha</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Sanders+S"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Stephan Sanders">Stephan Sanders</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Sandin+S"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Sven Sandin">Sven Sandin</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Santangelo+SL"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Susan L Santangelo">Susan L Santangelo</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Satterstrom+K"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Kyle Satterstrom">Kyle Satterstrom</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Schafer+C"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Chad Schafer">Chad Schafer</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Schellenberg+G"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Gerry Schellenberg">Gerry Schellenberg</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Scherer+S"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Stephen Scherer">Stephen Scherer</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Senthil+G"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Geetha Senthil">Geetha Senthil</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Silva+M"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Marisol Silva">Marisol Silva</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Singh+T"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Tarjinder Singh">Tarjinder Singh</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Siper+PM"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Paige M Siper">Paige M Siper</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Soares+G"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Gabriela Soares">Gabriela Soares</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Stevens+C"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Christine Stevens">Christine Stevens</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Stoltenberg+C"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Camilla Stoltenberg">Camilla Stoltenberg</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Sur%C3%A9n+P"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Pål Surén">Pål Surén</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Sutcliffe+JS"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="James S Sutcliffe">James S Sutcliffe</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Szatmari+P"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Peter Szatmari">Peter Szatmari</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Tassone+F"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Flora Tassone">Flora Tassone</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Thurm+A"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Audrey Thurm">Audrey Thurm</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Walsh+C"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Christopher Walsh">Christopher Walsh</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Weiss+L"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Lauren Weiss">Lauren Weiss</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Werling+D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Donna Werling">Donna Werling</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Willsey+J"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Jeremy Willsey">Jeremy Willsey</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Xu+X"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Xinyi Xu">Xinyi Xu</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Yu+TW"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Timothy W Yu">Timothy W Yu</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Yuen+R"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Ryan Yuen">Ryan Yuen</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Zwick+ME"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Michael E Zwick">Michael E Zwick</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> Division of Genetics and Genomics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-2"
|
||
id="short-view-affiliation-2"
|
||
><sup class="key">2</sup> Departments of Pediatrics and Neurology, Harvard Medical School, Boston, Massachusetts, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-3"
|
||
id="short-view-affiliation-3"
|
||
><sup class="key">3</sup> Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-4"
|
||
id="short-view-affiliation-4"
|
||
><sup class="key">4</sup> Wyss Institute for Biologically Inspired Engineering, Harvard University, Boston, Massachusetts, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-5"
|
||
id="short-view-affiliation-5"
|
||
><sup class="key">5</sup> Mohammed Bin Rashid University of Medicine and Health Sciences, College of Medicine, Dubai, United Arab Emirates.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-6"
|
||
id="short-view-affiliation-6"
|
||
><sup class="key">6</sup> Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai,New York, New York, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-7"
|
||
id="short-view-affiliation-7"
|
||
><sup class="key">7</sup> Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-8"
|
||
id="short-view-affiliation-8"
|
||
><sup class="key">8</sup> Department of Psychiatry, Center For Excellence in Autism Research, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-9"
|
||
id="short-view-affiliation-9"
|
||
><sup class="key">9</sup> Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-10"
|
||
id="short-view-affiliation-10"
|
||
><sup class="key">10</sup> Child and Adolescent Psychiatry Department, Hospital General Universitario Gregorio Marañón, School of Medicine, Universidad Complutense, IiSGM, CIBERSAM, Madrid, Spain.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-11"
|
||
id="short-view-affiliation-11"
|
||
><sup class="key">11</sup> Child and Adolescent Psychiatry Department, Hospital General Universitario Gregorio Marañón, IiSGM, CIBERSAM, Madrid, Spain.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-12"
|
||
id="short-view-affiliation-12"
|
||
><sup class="key">12</sup> Grupo de Medicina Xenomica, Universidade de Santiago de Compostela, Centro Nacional de Genotipado-Plataforma de Recursos Biomoleculares y Bioinformaticos-Instituto de Salud Carlos III (CeGen-PRB2-ISCIII), Santiago de Compostela, Spain.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-13"
|
||
id="short-view-affiliation-13"
|
||
><sup class="key">13</sup> Grupo de Medicina Xenomica, CIBERER, Fundacion Publica Galega de Medicina Xenomica-SERGAS, Santiago de Compostela, Spain.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-14"
|
||
id="short-view-affiliation-14"
|
||
><sup class="key">14</sup> Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-15"
|
||
id="short-view-affiliation-15"
|
||
><sup class="key">15</sup> Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-16"
|
||
id="short-view-affiliation-16"
|
||
><sup class="key">16</sup> The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-17"
|
||
id="short-view-affiliation-17"
|
||
><sup class="key">17</sup> Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-18"
|
||
id="short-view-affiliation-18"
|
||
><sup class="key">18</sup> Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-19"
|
||
id="short-view-affiliation-19"
|
||
><sup class="key">19</sup> Department of Psychiatry and Institute for Human Genetics, University of California, San Francisco, San Francisco, California, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-20"
|
||
id="short-view-affiliation-20"
|
||
><sup class="key">20</sup> Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-21"
|
||
id="short-view-affiliation-21"
|
||
><sup class="key">21</sup> Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Autism Research and Intervention Center of Excellence, University Hospital Frankfurt, Goethe University, Frankfurt am Main, Germany.</li>
|
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<li data-affiliation-id="short-view-affiliation-22"
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><sup class="key">22</sup> The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.</li>
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<li data-affiliation-id="short-view-affiliation-23"
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><sup class="key">23</sup> Program in Genetics and Genome Biology (GGB), The Hospital for Sick Children, Toronto, Ontario, Canada.</li>
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<li data-affiliation-id="short-view-affiliation-24"
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><sup class="key">24</sup> Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.</li>
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<li data-affiliation-id="short-view-affiliation-25"
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id="short-view-affiliation-25"
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><sup class="key">25</sup> McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.</li>
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Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
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<span class="docsum-authors full-authors">Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM; Autism Sequencing Consortium; Church GM, Scherer SW, Buxbaum JD, Walsh CA.</span>
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<span class="docsum-authors short-authors">Lim ET, et al.</span>
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<span class="docsum-journal-citation full-journal-citation">Nat Neurosci. 2020 Sep;23(9):1176. doi: 10.1038/s41593-020-0681-z.</span>
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<span class="docsum-journal-citation short-journal-citation">Nat Neurosci. 2020.</span>
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We systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed resequencing using multiple independent technologies. We identified 7.5% of de novo mutations as PZMs, 83.3% of which were not described in previous studies. Damaging, nonsynonymous PZMs within critical exons of prenatally expressed genes were more common in ASD probands than controls (P < 1 × 10<sup>-6</sup>), and genes carrying these PZMs were enriched for expression in the amygdala (P = 5.4 × 10<sup>-3</sup>). Two genes (KLF16 and MSANTD2) were significantly enriched for PZMs genome-wide, and other PZMs involved genes (SCN2A, HNRNPU and SMARCA4) whose mutation is known to cause ASD or other neurodevelopmental disorders. PZMs constitute a significant proportion of de novo mutations and contribute importantly to ASD risk.
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<p> Figure 1. <i> De novo </i> mutations in ASD… </p>
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<p> Figure 1. <i> De novo </i> mutations in ASD show an excess of low alternate allele frequencies,… </p>
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Figure 1. <i>De novo</i> mutations in ASD show an excess of low alternate allele frequencies, consistent with post-zygotic mosaicism
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<div class="figure-caption-contents"><b>(a)</b> There is an excess of variants with low AAFs among the <i>de novo</i> mutations, which are likely to be post-zygotic mutations. <b>(b)</b> Rates of mutations in the datasets for all <i>de novos</i> in Group A, as well as mosaics in Groups B and C. <b>(c)</b> Correlation of AAFs for PZMs across the AAF spectrum using multiple technologies (<i>n</i>=49 mutations for CloneSeq, <i>n</i>=46 mutations for Pyroseq, <i>n</i>=42 mutations for MiSeq), with higher correlations (Pearson's <i>r<sup>2</sup></i>=0.85 for CloneSeq and MiSeq, <i>r<sup>2</sup></i>=0.63 for CloneSeq and Pyroseq). <b>(d)</b> Percentages of identified <i>de novo</i> variants that were identified by previous analyses or novel from Groups A, B and C. The majority of high-confidence PZMs from Group C were not detected by previous calling algorithms.</div>
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<p> Figure 2. Post-zygotic mutations in ASD show… </p>
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<p> Figure 2. Post-zygotic mutations in ASD show excess deleterious mutations in critical exons of early… </p>
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Figure 2. Post-zygotic mutations in ASD show excess deleterious mutations in critical exons of early developmental brain expressed genes
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<div class="figure-caption-contents"><b>(a)</b> There is no statistically significant global excess of Group C PZMs in the probands (red) compared to their unaffected siblings (blue), hypergeometric <i>P</i>=0.32 for fraction of LoF variants in probands compared to siblings. <b>(b)</b> As expected, there are highly significant excesses in overall gDNMs (Group A) for genes expressed in prenatal and adult brains. For Groups B and C, representing potential and high-confidence PZMs, there is a strong excess of LoF and missense mutations in critical exons that are expressed in EPN (early prenatal) and LPN (late prenatal), 1-tailed Wilcoxon rank sum test <i>P</i><1×10<sup>-5</sup>, but not ECH (early childhood) or ADU (adult) post-mortem brain samples in the probands, 1-tailed Wilcoxon rank sum test <i>P</i>>1×10<sup>-5</sup>.</div>
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<p> Figure 3. Post-zygotic mutations implicate the prenatal… </p>
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<p> Figure 3. Post-zygotic mutations implicate the prenatal amygdala in ASD </p>
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Figure 3. Post-zygotic mutations implicate the prenatal amygdala in ASD
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<div class="figure-caption-contents">Spatial representation of the regions that are enriched for PZMs in Group C in the probands, and the 1-tailed Wilcoxon rank sum test <i>P</i>=5.4×10<sup>-3</sup> for the top brain region (AMY – amygdala).</div>
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<strong class="figure-label">
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<p> Figure 4. Recurrent non-synonymous post-zygotic mosaic mutations… </p>
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</strong>
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<p> Figure 4. Recurrent non-synonymous post-zygotic mosaic mutations implicate novel genes with more mutations than expected… </p>
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</strong>
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<strong class="figure-label">
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Figure 4. Recurrent non-synonymous post-zygotic mosaic mutations implicate novel genes with more mutations than expected false calls
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</strong>
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<div class="figure-caption-contents"><b>(a)</b> Sanger sequencing traces for the 3 <i>SMARCA4</i> mutations. <b>(b)</b>
|
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<i>SMARCA4</i> mutations reported in cancers, Coffin-Siris syndrome and ASD. <b>(c)</b> qPCR results for <i>GRIN2B</i> after overexpression and selection of wildtype and mutant (p.P143A and p.I184T) human <i>SMARCA4</i> in N2A cells, with the values for each replicate experiment (<i>N</i>=3 each for WT, P143A and I184T) in red dots (unpaired t-test <i>P</i>=0.0031 for P143A compared to wildtype and <i>P</i>=0.015 for I184T compared to wildtype).</div>
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data-ga-label="Genetic Predisposition to Disease / 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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|
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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"
|
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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 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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</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-expanded="false"
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Humans
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</button><div id="keyword-actions-mesh-terms-4"
|
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hidden
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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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Mosaicism
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</button><div id="keyword-actions-mesh-terms-5"
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class="keyword-actions-dropdown dropdown dropdown-container"
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aria-label="Dropdown menu for keyword Mosaicism"><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=%22Mosaicism%22%5BMeSH%5D&sort=date&sort_order=desc"
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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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data-pinger-ignore>
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Mutation, Missense / 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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href="/?term=%22Mutation%2C+Missense%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Mutation%2C+Missense%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
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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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tabindex="0"
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aria-expanded="false"
|
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data-pinger-ignore>
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Zygote / physiology
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</button><div id="keyword-actions-mesh-terms-7"
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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 Zygote / physiology"><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=%22Zygote%2Fphysiology%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Zygote%2Fphysiology%22%5BMeSH%5D&sort=date&sort_order=desc"
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Search in PubMed
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Search in MeSH
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Add to Search
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</a></li></ul></div></div></div></li></ul>
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</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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<div id="related-links" class="related-links">
|
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<h2 class="title">
|
||
Related information
|
||
</h2>
|
||
|
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<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=28714951"
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28714951&ordinalpos=1&linkpos=1">
|
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Cited in Books
|
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</a></li><li><a title="Clinical variations associated with publication" href="https://www.ncbi.nlm.nih.gov/clinvar?linkname=pubmed_clinvar&from_uid=28714951"
|
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28714951&ordinalpos=1&linkpos=2">
|
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ClinVar
|
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</a></li><li><a title="Link to related Genes" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene&from_uid=28714951"
|
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28714951&ordinalpos=1&linkpos=3">
|
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Gene
|
||
</a></li><li><a title="Related information in MedGen" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen&from_uid=28714951"
|
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28714951&ordinalpos=1&linkpos=4">
|
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MedGen
|
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</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=28714951"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28714951&ordinalpos=1&linkpos=5">
|
||
MedGen (Bookshelf cited)
|
||
</a></li><li><a title="Link to Protein RefSeqs" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein_refseq&from_uid=28714951"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28714951&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=28714951"
|
||
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28714951&ordinalpos=1&linkpos=7">
|
||
dbGaP
|
||
</a></li></ul>
|
||
</div>
|
||
|
||
|
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|
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|
||
|
||
<div id="grants" class="grants">
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<h2 class="title">
|
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Grants and funding
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</h2>
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<div class="grants-list"><ul id="grants-head-list"><li class="grant-item"><a
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</a></li><li class="grant-item"><a
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RC2 MH089952/MH/NIMH NIH HHS/United States
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</a></li><li class="grant-item"><a
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</a></li><li class="grant-item"><a
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</a></li><li class="grant-item"><a
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</a></li></ul><ul id="grants-tail-list" class="list-tail"><li class="grant-item"><a
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</a></li><li class="grant-item"><a
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</a></li><li class="grant-item"><a
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</a></li><li class="grant-item"><a
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