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<meta name="citation_authors" content="Zhang LX;Lemire G;Gonzaga-Jauregui C;Molidperee S;Galaz-Montoya C;Liu DS;Verloes A;Shillington AG;Izumi K;Ritter AL;Keena B;Zackai E;Li D;Bhoj E;Tarpinian JM;Bedoukian E;Kukolich MK;Innes AM;Ediae GU;Sawyer SL;Nair KM;Soumya PC;Subbaraman KR;Probst FJ;Bassetti JA;Sutton RV;Gibbs RA;Brown C;Boone PM;Holm IA;Tartaglia M;Ferrero GB;Niceta M;Dentici ML;Radio FC;Keren B;Wells CF;Coubes C;Laquerrière A;Aziza J;Dubucs C;Nampoothiri S;Mowat D;Patel MS;Bracho A;Cammarata-Scalisi F;Gezdirici A;Fernandez-Jaen A;Hauser N;Zarate YA;Bosanko KA;Dieterich K;Carey JC;Chong JX;Nickerson DA;Bamshad MJ;Lee BH;Yang XJ;Lupski JR;Campeau PM;">
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|
||
class="search-input-link clipboard-link hidden"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="clipboard">
|
||
Clipboard <span class="amount-in-clipboard"></span>
|
||
</a>
|
||
</div>
|
||
|
||
<span class="search-input-link user-guide-link" role="navigation" aria-label="User guide">
|
||
<a href="/help/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="user_guide">
|
||
User Guide
|
||
</a>
|
||
</span>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</form>
|
||
|
||
|
||
<div id="article-page-header">
|
||
<div id="article-top-actions-bar" class="article-top-actions-bar">
|
||
<div class="inner-wrap">
|
||
<div class="actions-container">
|
||
<div class="return-to-search">
|
||
|
||
|
||
</div>
|
||
|
||
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
|
||
<button id="save-results-panel-trigger"
|
||
type="button"
|
||
class="save-results save-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="save-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="open">
|
||
Save
|
||
</button><button id="email-results-panel-trigger"
|
||
type="button"
|
||
class="email-results email-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="email-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="open">
|
||
Email
|
||
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
|
||
type="button"
|
||
class="trigger more-actions-trigger"
|
||
ref="linksrc=show_moreactions_btn"
|
||
aria-label="Send to"
|
||
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
|
||
href="#"
|
||
role="button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="clipboard"
|
||
data-ga-label="send">
|
||
Clipboard
|
||
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F32424177%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%2F32424177%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="tDcFUZiz9TnbhFMM1FOasGMwWIWRi78AKqWKxPLVJuaFb6SCEYrcWOiauME3bIGU">
|
||
</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="tDcFUZiz9TnbhFMM1FOasGMwWIWRi78AKqWKxPLVJuaFb6SCEYrcWOiauME3bIGU">
|
||
|
||
|
||
|
||
<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="tDcFUZiz9TnbhFMM1FOasGMwWIWRi78AKqWKxPLVJuaFb6SCEYrcWOiauME3bIGU">
|
||
|
||
<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: 32424177 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 32424177"/>
|
||
<input type="hidden" name="email-subject-hash" value="ed743a7b834d3f9750451f23f6d629aebf2ee1eb6fd35262ac08510a8ffba5fd"/>
|
||
</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="tDcFUZiz9TnbhFMM1FOasGMwWIWRi78AKqWKxPLVJuaFb6SCEYrcWOiauME3bIGU">
|
||
|
||
|
||
|
||
<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="tDcFUZiz9TnbhFMM1FOasGMwWIWRi78AKqWKxPLVJuaFb6SCEYrcWOiauME3bIGU">
|
||
|
||
|
||
|
||
<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="tDcFUZiz9TnbhFMM1FOasGMwWIWRi78AKqWKxPLVJuaFb6SCEYrcWOiauME3bIGU">
|
||
|
||
<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="tDcFUZiz9TnbhFMM1FOasGMwWIWRi78AKqWKxPLVJuaFb6SCEYrcWOiauME3bIGU">
|
||
|
||
|
||
|
||
<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="tDcFUZiz9TnbhFMM1FOasGMwWIWRi78AKqWKxPLVJuaFb6SCEYrcWOiauME3bIGU">
|
||
|
||
<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="32424177">
|
||
<aside class="page-sidebar">
|
||
<div class="inner-wrap">
|
||
|
||
<div class="full-text-links">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Full text links
|
||
</h3>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
|
||
dialog-focus"
|
||
href="https://linkinghub.elsevier.com/retrieve/pii/S1098-3600(21)00692-4"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3048&itool=Abstract-def&log$=linkouticon&uid=32424177&db=pubmed&nlmid=9815831"
|
||
title="See full text options at Elsevier Science"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Elsevier Science"
|
||
data-ga-label="32424177"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--linkinghub.elsevier.com-ihub-images-elsevieroa.png" alt="Elsevier Science full text link"><span class="text">
|
||
|
||
Elsevier Science
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/32424177/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=32424177&db=pubmed&nlmid=9815831"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="32424177"
|
||
><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="/32424177/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/32424177/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="32424177" 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%2F32424177%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="tDcFUZiz9TnbhFMM1FOasGMwWIWRi78AKqWKxPLVJuaFb6SCEYrcWOiauME3bIGU"><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"
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</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2020 Aug;22(8):1338-1347.</span>
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<h1 class="heading-title">
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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
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6
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||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ritter+AL&cauthor_id=32424177"
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data-ga-label="Alyssa L Ritter">Alyssa L Ritter</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#full-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Keena+B&cauthor_id=32424177"
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data-ga-label="Beth Keena">Beth Keena</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#full-view-affiliation-6" ref="linksrc=author_aff">
|
||
6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Zackai+E&cauthor_id=32424177"
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data-ga-label="Elaine Zackai">Elaine Zackai</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#full-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA." href="#full-view-affiliation-8" ref="linksrc=author_aff">
|
||
8
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Li+D&cauthor_id=32424177"
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data-ga-label="Dong Li">Dong Li</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#full-view-affiliation-9" ref="linksrc=author_aff">
|
||
9
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Bhoj+E&cauthor_id=32424177"
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data-ga-label="Elizabeth Bhoj">Elizabeth Bhoj</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#full-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Tarpinian+JM&cauthor_id=32424177"
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data-ga-label="Jennifer M Tarpinian">Jennifer M Tarpinian</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#full-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Bedoukian+E&cauthor_id=32424177"
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data-ga-label="Emma Bedoukian">Emma Bedoukian</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#full-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Kukolich+MK&cauthor_id=32424177"
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data-ga-label="Mary K Kukolich">Mary K Kukolich</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Cook Children's Health Care System, Fort Worth, TX, USA." href="#full-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Innes+AM&cauthor_id=32424177"
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data-ga-label="A Micheil Innes">A Micheil Innes</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ediae+GU&cauthor_id=32424177"
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data-ga-label="Grace U Ediae">Grace U Ediae</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada." href="#full-view-affiliation-13" ref="linksrc=author_aff">
|
||
13
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Sawyer+SL&cauthor_id=32424177"
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data-ga-label="Sarah L Sawyer">Sarah L Sawyer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada." href="#full-view-affiliation-14" ref="linksrc=author_aff">
|
||
14
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Nair+KM&cauthor_id=32424177"
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data-ga-label="Karippoth Mohandas Nair">Karippoth Mohandas Nair</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Government Medical College, Kozhikode, Kerala, India." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Soumya+PC&cauthor_id=32424177"
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data-ga-label="Para Chottil Soumya">Para Chottil Soumya</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Government Medical College, Kozhikode, Kerala, India." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Subbaraman+KR&cauthor_id=32424177"
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data-ga-label="Kinattinkara R Subbaraman">Kinattinkara R Subbaraman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Government Medical College, Kozhikode, Kerala, India." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Probst+FJ&cauthor_id=32424177"
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data-ga-label="Frank J Probst">Frank J Probst</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA." href="#full-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Texas Children's Hospital, Houston, TX, USA." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Bassetti+JA&cauthor_id=32424177"
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data-ga-label="Jennifer A Bassetti">Jennifer A Bassetti</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA." href="#full-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Texas Children's Hospital, Houston, TX, USA." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Sutton+RV&cauthor_id=32424177"
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data-ga-label="Reid V Sutton">Reid V Sutton</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA." href="#full-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Texas Children's Hospital, Houston, TX, USA." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Gibbs+RA&cauthor_id=32424177"
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data-ga-label="Richard A Gibbs">Richard A Gibbs</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA." href="#full-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Brown+C&cauthor_id=32424177"
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data-ga-label="Chester Brown">Chester Brown</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA." href="#full-view-affiliation-17" ref="linksrc=author_aff">
|
||
17
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Boone+PM&cauthor_id=32424177"
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data-ga-label="Philip M Boone">Philip M Boone</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA." href="#full-view-affiliation-18" ref="linksrc=author_aff">
|
||
18
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Holm+IA&cauthor_id=32424177"
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data-ga-label="Ingrid A Holm">Ingrid A Holm</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA." href="#full-view-affiliation-18" ref="linksrc=author_aff">
|
||
18
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Tartaglia+M&cauthor_id=32424177"
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data-ga-label="Marco Tartaglia">Marco Tartaglia</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy." href="#full-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ferrero+GB&cauthor_id=32424177"
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data-ga-label="Giovanni Battista Ferrero">Giovanni Battista Ferrero</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Public Health and Pediatric Sciences, University of Torino, Turin, Italy." href="#full-view-affiliation-20" ref="linksrc=author_aff">
|
||
20
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Niceta+M&cauthor_id=32424177"
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data-ga-label="Marcello Niceta">Marcello Niceta</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy." href="#full-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Dentici+ML&cauthor_id=32424177"
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data-ga-label="Maria Lisa Dentici">Maria Lisa Dentici</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy." href="#full-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Radio+FC&cauthor_id=32424177"
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data-ga-label="Francesca Clementina Radio">Francesca Clementina Radio</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy." href="#full-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Keren+B&cauthor_id=32424177"
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data-ga-label="Boris Keren">Boris Keren</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetic department, AP-HP, Sorbonne Université, Paris, France." href="#full-view-affiliation-21" ref="linksrc=author_aff">
|
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21
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Wells+CF&cauthor_id=32424177"
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data-ga-label="Constance F Wells">Constance F Wells</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU de Montpellier, Montpellier, France." href="#full-view-affiliation-22" ref="linksrc=author_aff">
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22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Coubes+C&cauthor_id=32424177"
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data-ga-label="Christine Coubes">Christine Coubes</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU de Montpellier, Montpellier, France." href="#full-view-affiliation-22" ref="linksrc=author_aff">
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22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Laquerri%C3%A8re+A&cauthor_id=32424177"
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data-ga-label="Annie Laquerrière">Annie Laquerrière</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pathology, Centre for Genomic and Personalized Medicine, UNIROUEN Normandie University, Inserm U1245, Normandy, Rouen, France." href="#full-view-affiliation-23" ref="linksrc=author_aff">
|
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23
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Aziza+J&cauthor_id=32424177"
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data-ga-label="Jacqueline Aziza">Jacqueline Aziza</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Département anatomie et cytologie pathologiques, CHU Toulouse, Toulouse, France." href="#full-view-affiliation-24" ref="linksrc=author_aff">
|
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24
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Dubucs+C&cauthor_id=32424177"
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data-ga-label="Charlotte Dubucs">Charlotte Dubucs</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Département anatomie et cytologie pathologiques, CHU Toulouse, Toulouse, France." href="#full-view-affiliation-24" ref="linksrc=author_aff">
|
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24
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Nampoothiri+S&cauthor_id=32424177"
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data-ga-label="Sheela Nampoothiri">Sheela Nampoothiri</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India." href="#full-view-affiliation-25" ref="linksrc=author_aff">
|
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25
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Mowat+D&cauthor_id=32424177"
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data-ga-label="David Mowat">David Mowat</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia." href="#full-view-affiliation-26" ref="linksrc=author_aff">
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26
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data-ga-label="Millan S Patel">Millan S Patel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="BC Children's Hospital Research Institute and Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada." href="#full-view-affiliation-27" ref="linksrc=author_aff">
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27
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data-ga-label="Ana Bracho">Ana Bracho</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetic Research Institute, University of Zulia, Maracaibo, Venezuela." href="#full-view-affiliation-28" ref="linksrc=author_aff">
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28
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data-ga-label="Francisco Cammarata-Scalisi">Francisco Cammarata-Scalisi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Genetics, University of Los Andes, Mérida, Venezuela." href="#full-view-affiliation-29" ref="linksrc=author_aff">
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29
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data-ga-label="Alper Gezdirici">Alper Gezdirici</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, Istanbul Health Science University, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey." href="#full-view-affiliation-30" ref="linksrc=author_aff">
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30
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data-ga-label="Alberto Fernandez-Jaen">Alberto Fernandez-Jaen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Neurology, Hospital Quirónsalud School of Medicine, Universidad Europea, Madrid, Spain." href="#full-view-affiliation-31" ref="linksrc=author_aff">
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31
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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="Natalie Hauser">Natalie Hauser</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Inova Health system, Falls Church, VA, USA." href="#full-view-affiliation-32" ref="linksrc=author_aff">
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32
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data-ga-label="Yuri A Zarate">Yuri A Zarate</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA." href="#full-view-affiliation-33" ref="linksrc=author_aff">
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33
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data-ga-label="Katherine A Bosanko">Katherine A Bosanko</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA." href="#full-view-affiliation-33" ref="linksrc=author_aff">
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33
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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="Klaus Dieterich">Klaus Dieterich</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Genetics, CHU Grenoble Alpes, Université Grenoble Alpes, Inserm, U1216, GIN, Grenoble, France." href="#full-view-affiliation-34" ref="linksrc=author_aff">
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34
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data-ga-label="John C Carey">John C Carey</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics, Department of Pediatrics, University of Utah Health, Salt Lake City, UT, USA." href="#full-view-affiliation-35" ref="linksrc=author_aff">
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35
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data-ga-label="Jessica X Chong">Jessica X Chong</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, University of Washington, Seattle, WA, USA." href="#full-view-affiliation-36" ref="linksrc=author_aff">
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36
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Brotman-Baty Institute for Precision Medicine, Seattle, WA, USA." href="#full-view-affiliation-37" ref="linksrc=author_aff">
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37
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Deborah A Nickerson">Deborah A Nickerson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Brotman-Baty Institute for Precision Medicine, Seattle, WA, USA." href="#full-view-affiliation-37" ref="linksrc=author_aff">
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37
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genome Sciences, University of Washington, Seattle, WA, USA." href="#full-view-affiliation-38" ref="linksrc=author_aff">
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38
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Bamshad+MJ&cauthor_id=32424177"
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data-ga-label="Michael J Bamshad">Michael J Bamshad</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, University of Washington, Seattle, WA, USA." href="#full-view-affiliation-36" ref="linksrc=author_aff">
|
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36
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Brotman-Baty Institute for Precision Medicine, Seattle, WA, USA." href="#full-view-affiliation-37" ref="linksrc=author_aff">
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37
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Lee+BH&cauthor_id=32424177"
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data-ga-label="Brendan H Lee">Brendan H Lee</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA." href="#full-view-affiliation-3" ref="linksrc=author_aff">
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3
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Yang+XJ&cauthor_id=32424177"
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data-ga-label="Xiang-Jiao Yang">Xiang-Jiao Yang</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Goodman Cancer Center, Department of Medicine, McGill University, Montreal, QC, Canada." href="#full-view-affiliation-39" ref="linksrc=author_aff">
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39
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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="James R Lupski">James R Lupski</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA." href="#full-view-affiliation-3" ref="linksrc=author_aff">
|
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3
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Texas Children's Hospital, Houston, TX, 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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href="/?term=Campeau+PM&cauthor_id=32424177"
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data-ga-label="Philippe M Campeau">Philippe M Campeau</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada. p.campeau@umontreal.ca." href="#full-view-affiliation-40" ref="linksrc=author_aff">
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40
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</a></sup></span>
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<div class="short-article-details">
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Affiliations
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<div class="affiliations">
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<h3 class="title">
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Affiliations
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><sup class="key">1</sup> Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC, Canada.</li>
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|
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|
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<li data-affiliation-id="full-view-affiliation-4"
|
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id="full-view-affiliation-4"
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><sup class="key">4</sup> Department of Genetics and INSERM UMR1141, APHP-Nord Université de Paris, Robert DEBRE Hospital, Paris and ERN-ITHACA, Paris, France.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-5"
|
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id="full-view-affiliation-5"
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><sup class="key">5</sup> Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.</li>
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<li data-affiliation-id="full-view-affiliation-6"
|
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id="full-view-affiliation-6"
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><sup class="key">6</sup> Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.</li>
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<li data-affiliation-id="full-view-affiliation-7"
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><sup class="key">7</sup> Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-8"
|
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id="full-view-affiliation-8"
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><sup class="key">8</sup> Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-9"
|
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id="full-view-affiliation-9"
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><sup class="key">9</sup> Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.</li>
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|
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<li data-affiliation-id="full-view-affiliation-10"
|
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id="full-view-affiliation-10"
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><sup class="key">10</sup> Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-11"
|
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id="full-view-affiliation-11"
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><sup class="key">11</sup> Cook Children's Health Care System, Fort Worth, TX, USA.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-12"
|
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id="full-view-affiliation-12"
|
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><sup class="key">12</sup> Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-13"
|
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id="full-view-affiliation-13"
|
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><sup class="key">13</sup> Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-14"
|
||
id="full-view-affiliation-14"
|
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><sup class="key">14</sup> Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-15"
|
||
id="full-view-affiliation-15"
|
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><sup class="key">15</sup> Department of Pediatrics, Government Medical College, Kozhikode, Kerala, India.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-16"
|
||
id="full-view-affiliation-16"
|
||
><sup class="key">16</sup> Texas Children's Hospital, Houston, TX, USA.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-17"
|
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id="full-view-affiliation-17"
|
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><sup class="key">17</sup> University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-18"
|
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id="full-view-affiliation-18"
|
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><sup class="key">18</sup> Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-19"
|
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id="full-view-affiliation-19"
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><sup class="key">19</sup> Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-20"
|
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id="full-view-affiliation-20"
|
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><sup class="key">20</sup> Department of Public Health and Pediatric Sciences, University of Torino, Turin, Italy.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-21"
|
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id="full-view-affiliation-21"
|
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><sup class="key">21</sup> Genetic department, AP-HP, Sorbonne Université, Paris, France.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-22"
|
||
id="full-view-affiliation-22"
|
||
><sup class="key">22</sup> Service de Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU de Montpellier, Montpellier, France.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-23"
|
||
id="full-view-affiliation-23"
|
||
><sup class="key">23</sup> Department of Pathology, Centre for Genomic and Personalized Medicine, UNIROUEN Normandie University, Inserm U1245, Normandy, Rouen, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-24"
|
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id="full-view-affiliation-24"
|
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><sup class="key">24</sup> Département anatomie et cytologie pathologiques, CHU Toulouse, Toulouse, France.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-25"
|
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id="full-view-affiliation-25"
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><sup class="key">25</sup> Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-26"
|
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id="full-view-affiliation-26"
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><sup class="key">26</sup> Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-27"
|
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id="full-view-affiliation-27"
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><sup class="key">27</sup> BC Children's Hospital Research Institute and Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-28"
|
||
id="full-view-affiliation-28"
|
||
><sup class="key">28</sup> Genetic Research Institute, University of Zulia, Maracaibo, Venezuela.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-29"
|
||
id="full-view-affiliation-29"
|
||
><sup class="key">29</sup> Medical Genetics, University of Los Andes, Mérida, Venezuela.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-30"
|
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id="full-view-affiliation-30"
|
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><sup class="key">30</sup> Department of Medical Genetics, Istanbul Health Science University, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-31"
|
||
id="full-view-affiliation-31"
|
||
><sup class="key">31</sup> Department of Pediatric Neurology, Hospital Quirónsalud School of Medicine, Universidad Europea, Madrid, Spain.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-32"
|
||
id="full-view-affiliation-32"
|
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><sup class="key">32</sup> Inova Health system, Falls Church, VA, USA.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-33"
|
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id="full-view-affiliation-33"
|
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><sup class="key">33</sup> Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-34"
|
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id="full-view-affiliation-34"
|
||
><sup class="key">34</sup> Medical Genetics, CHU Grenoble Alpes, Université Grenoble Alpes, Inserm, U1216, GIN, Grenoble, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-35"
|
||
id="full-view-affiliation-35"
|
||
><sup class="key">35</sup> Division of Medical Genetics, Department of Pediatrics, University of Utah Health, Salt Lake City, UT, USA.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-36"
|
||
id="full-view-affiliation-36"
|
||
><sup class="key">36</sup> Department of Pediatrics, University of Washington, Seattle, WA, USA.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-37"
|
||
id="full-view-affiliation-37"
|
||
><sup class="key">37</sup> Brotman-Baty Institute for Precision Medicine, Seattle, WA, USA.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-38"
|
||
id="full-view-affiliation-38"
|
||
><sup class="key">38</sup> Department of Genome Sciences, University of Washington, Seattle, WA, USA.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-39"
|
||
id="full-view-affiliation-39"
|
||
><sup class="key">39</sup> Goodman Cancer Center, Department of Medicine, McGill University, Montreal, QC, Canada.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-40"
|
||
id="full-view-affiliation-40"
|
||
><sup class="key">40</sup> Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada. p.campeau@umontreal.ca.</li>
|
||
|
||
</ul>
|
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|
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<div class="equal-contrib-block">
|
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<div class="equal-contrib-explanation" id="full-view-equal-contrib-explanation"><sup class="key">#</sup> Contributed equally.</div>
|
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|
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|
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|
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|
||
<h1 class="heading-title">
|
||
|
||
|
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|
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|
||
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|
||
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
|
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</h1>
|
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<div class="short-citation">
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<span class="authors-list-item "><span class="full-name">Li Xin Zhang</span><span class="citation-separator"> et al.</span></span>
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2
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3
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1
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6
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7
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6
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|
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7
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA." href="#short-view-affiliation-8" ref="linksrc=author_aff">
|
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8
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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9
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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|
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7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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10
|
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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="Emma Bedoukian">Emma Bedoukian</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#short-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Kukolich+MK&cauthor_id=32424177"
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data-ga-label="Mary K Kukolich">Mary K Kukolich</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Cook Children's Health Care System, Fort Worth, TX, USA." href="#short-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Innes+AM&cauthor_id=32424177"
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data-ga-label="A Micheil Innes">A Micheil Innes</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada." href="#short-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Ediae+GU&cauthor_id=32424177"
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data-ga-label="Grace U Ediae">Grace U Ediae</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada." href="#short-view-affiliation-13" ref="linksrc=author_aff">
|
||
13
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Sawyer+SL&cauthor_id=32424177"
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data-ga-label="Sarah L Sawyer">Sarah L Sawyer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada." href="#short-view-affiliation-14" ref="linksrc=author_aff">
|
||
14
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Nair+KM&cauthor_id=32424177"
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data-ga-label="Karippoth Mohandas Nair">Karippoth Mohandas Nair</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Government Medical College, Kozhikode, Kerala, India." href="#short-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Soumya+PC&cauthor_id=32424177"
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data-ga-label="Para Chottil Soumya">Para Chottil Soumya</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Government Medical College, Kozhikode, Kerala, India." href="#short-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Subbaraman+KR&cauthor_id=32424177"
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data-ga-label="Kinattinkara R Subbaraman">Kinattinkara R Subbaraman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Government Medical College, Kozhikode, Kerala, India." href="#short-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Probst+FJ&cauthor_id=32424177"
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data-ga-label="Frank J Probst">Frank J Probst</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA." href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Texas Children's Hospital, Houston, TX, 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"
|
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href="/?term=Bassetti+JA&cauthor_id=32424177"
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data-ga-label="Jennifer A Bassetti">Jennifer A Bassetti</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA." href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Texas Children's Hospital, Houston, TX, 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"
|
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href="/?term=Sutton+RV&cauthor_id=32424177"
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data-ga-label="Reid V Sutton">Reid V Sutton</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA." href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Texas Children's Hospital, Houston, TX, USA." href="#short-view-affiliation-16" ref="linksrc=author_aff">
|
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16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Gibbs+RA&cauthor_id=32424177"
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data-ga-label="Richard A Gibbs">Richard A Gibbs</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA." href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Brown+C&cauthor_id=32424177"
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data-ga-label="Chester Brown">Chester Brown</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA." href="#short-view-affiliation-17" ref="linksrc=author_aff">
|
||
17
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Boone+PM&cauthor_id=32424177"
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ref="linksrc=author_name_link"
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data-ga-label="Philip M Boone">Philip M Boone</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA." href="#short-view-affiliation-18" ref="linksrc=author_aff">
|
||
18
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Holm+IA&cauthor_id=32424177"
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ref="linksrc=author_name_link"
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data-ga-label="Ingrid A Holm">Ingrid A Holm</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA." href="#short-view-affiliation-18" ref="linksrc=author_aff">
|
||
18
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Tartaglia+M&cauthor_id=32424177"
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data-ga-label="Marco Tartaglia">Marco Tartaglia</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy." href="#short-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ferrero+GB&cauthor_id=32424177"
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data-ga-label="Giovanni Battista Ferrero">Giovanni Battista Ferrero</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Public Health and Pediatric Sciences, University of Torino, Turin, Italy." href="#short-view-affiliation-20" ref="linksrc=author_aff">
|
||
20
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Niceta+M&cauthor_id=32424177"
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data-ga-label="Marcello Niceta">Marcello Niceta</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy." href="#short-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Dentici+ML&cauthor_id=32424177"
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data-ga-label="Maria Lisa Dentici">Maria Lisa Dentici</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy." href="#short-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Radio+FC&cauthor_id=32424177"
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data-ga-label="Francesca Clementina Radio">Francesca Clementina Radio</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy." href="#short-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Keren+B&cauthor_id=32424177"
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data-ga-label="Boris Keren">Boris Keren</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetic department, AP-HP, Sorbonne Université, Paris, France." href="#short-view-affiliation-21" ref="linksrc=author_aff">
|
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21
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Wells+CF&cauthor_id=32424177"
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data-ga-label="Constance F Wells">Constance F Wells</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU de Montpellier, Montpellier, France." href="#short-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Coubes+C&cauthor_id=32424177"
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data-ga-label="Christine Coubes">Christine Coubes</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU de Montpellier, Montpellier, France." href="#short-view-affiliation-22" ref="linksrc=author_aff">
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||
22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Laquerri%C3%A8re+A&cauthor_id=32424177"
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data-ga-label="Annie Laquerrière">Annie Laquerrière</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pathology, Centre for Genomic and Personalized Medicine, UNIROUEN Normandie University, Inserm U1245, Normandy, Rouen, France." href="#short-view-affiliation-23" ref="linksrc=author_aff">
|
||
23
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Aziza+J&cauthor_id=32424177"
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data-ga-label="Jacqueline Aziza">Jacqueline Aziza</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Département anatomie et cytologie pathologiques, CHU Toulouse, Toulouse, France." href="#short-view-affiliation-24" ref="linksrc=author_aff">
|
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24
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Dubucs+C&cauthor_id=32424177"
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data-ga-label="Charlotte Dubucs">Charlotte Dubucs</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Département anatomie et cytologie pathologiques, CHU Toulouse, Toulouse, France." href="#short-view-affiliation-24" ref="linksrc=author_aff">
|
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24
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Nampoothiri+S&cauthor_id=32424177"
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data-ga-label="Sheela Nampoothiri">Sheela Nampoothiri</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India." href="#short-view-affiliation-25" ref="linksrc=author_aff">
|
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25
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Mowat+D&cauthor_id=32424177"
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data-ga-label="David Mowat">David Mowat</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia." href="#short-view-affiliation-26" ref="linksrc=author_aff">
|
||
26
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Patel+MS&cauthor_id=32424177"
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data-ga-label="Millan S Patel">Millan S Patel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="BC Children's Hospital Research Institute and Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada." href="#short-view-affiliation-27" ref="linksrc=author_aff">
|
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27
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||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Bracho+A&cauthor_id=32424177"
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data-ga-label="Ana Bracho">Ana Bracho</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetic Research Institute, University of Zulia, Maracaibo, Venezuela." href="#short-view-affiliation-28" ref="linksrc=author_aff">
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28
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||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Cammarata-Scalisi+F&cauthor_id=32424177"
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data-ga-label="Francisco Cammarata-Scalisi">Francisco Cammarata-Scalisi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Genetics, University of Los Andes, Mérida, Venezuela." href="#short-view-affiliation-29" ref="linksrc=author_aff">
|
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29
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Gezdirici+A&cauthor_id=32424177"
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data-ga-label="Alper Gezdirici">Alper Gezdirici</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, Istanbul Health Science University, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey." href="#short-view-affiliation-30" ref="linksrc=author_aff">
|
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30
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||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Fernandez-Jaen+A&cauthor_id=32424177"
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data-ga-label="Alberto Fernandez-Jaen">Alberto Fernandez-Jaen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Neurology, Hospital Quirónsalud School of Medicine, Universidad Europea, Madrid, Spain." href="#short-view-affiliation-31" ref="linksrc=author_aff">
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31
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Hauser+N&cauthor_id=32424177"
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data-ga-label="Natalie Hauser">Natalie Hauser</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Inova Health system, Falls Church, VA, USA." href="#short-view-affiliation-32" ref="linksrc=author_aff">
|
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32
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Zarate+YA&cauthor_id=32424177"
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|
||
data-ga-label="Yuri A Zarate">Yuri A Zarate</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA." href="#short-view-affiliation-33" ref="linksrc=author_aff">
|
||
33
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Bosanko+KA&cauthor_id=32424177"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
|
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data-ga-label="Katherine A Bosanko">Katherine A Bosanko</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA." href="#short-view-affiliation-33" ref="linksrc=author_aff">
|
||
33
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Dieterich+K&cauthor_id=32424177"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
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data-ga-action="author_link"
|
||
data-ga-label="Klaus Dieterich">Klaus Dieterich</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Genetics, CHU Grenoble Alpes, Université Grenoble Alpes, Inserm, U1216, GIN, Grenoble, France." href="#short-view-affiliation-34" ref="linksrc=author_aff">
|
||
34
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Carey+JC&cauthor_id=32424177"
|
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ref="linksrc=author_name_link"
|
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data-ga-category="search"
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|
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data-ga-label="John C Carey">John C Carey</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics, Department of Pediatrics, University of Utah Health, Salt Lake City, UT, USA." href="#short-view-affiliation-35" ref="linksrc=author_aff">
|
||
35
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Chong+JX&cauthor_id=32424177"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
|
||
data-ga-label="Jessica X Chong">Jessica X Chong</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, University of Washington, Seattle, WA, USA." href="#short-view-affiliation-36" ref="linksrc=author_aff">
|
||
36
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Brotman-Baty Institute for Precision Medicine, Seattle, WA, USA." href="#short-view-affiliation-37" ref="linksrc=author_aff">
|
||
37
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Nickerson+DA&cauthor_id=32424177"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
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data-ga-action="author_link"
|
||
data-ga-label="Deborah A Nickerson">Deborah A Nickerson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Brotman-Baty Institute for Precision Medicine, Seattle, WA, USA." href="#short-view-affiliation-37" ref="linksrc=author_aff">
|
||
37
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genome Sciences, University of Washington, Seattle, WA, USA." href="#short-view-affiliation-38" ref="linksrc=author_aff">
|
||
38
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Bamshad+MJ&cauthor_id=32424177"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
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data-ga-label="Michael J Bamshad">Michael J Bamshad</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, University of Washington, Seattle, WA, USA." href="#short-view-affiliation-36" ref="linksrc=author_aff">
|
||
36
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Brotman-Baty Institute for Precision Medicine, Seattle, WA, USA." href="#short-view-affiliation-37" ref="linksrc=author_aff">
|
||
37
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Lee+BH&cauthor_id=32424177"
|
||
ref="linksrc=author_name_link"
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data-ga-category="search"
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data-ga-action="author_link"
|
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data-ga-label="Brendan H Lee">Brendan H Lee</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA." href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Yang+XJ&cauthor_id=32424177"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Xiang-Jiao Yang">Xiang-Jiao Yang</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Goodman Cancer Center, Department of Medicine, McGill University, Montreal, QC, Canada." href="#short-view-affiliation-39" ref="linksrc=author_aff">
|
||
39
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Lupski+JR&cauthor_id=32424177"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="James R Lupski">James R Lupski</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA." href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Texas Children's Hospital, Houston, TX, 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=Campeau+PM&cauthor_id=32424177"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Philippe M Campeau">Philippe M Campeau</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada. p.campeau@umontreal.ca." href="#short-view-affiliation-40" ref="linksrc=author_aff">
|
||
40
|
||
</a></sup></span>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="affiliations">
|
||
<h3 class="title">
|
||
Affiliations
|
||
</h3>
|
||
<ul class="item-list">
|
||
|
||
<li data-affiliation-id="short-view-affiliation-1"
|
||
id="short-view-affiliation-1"
|
||
><sup class="key">1</sup> Sainte-Justine Hospital Research Center, University of Montreal, Montreal, QC, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-2"
|
||
id="short-view-affiliation-2"
|
||
><sup class="key">2</sup> Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-3"
|
||
id="short-view-affiliation-3"
|
||
><sup class="key">3</sup> Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-4"
|
||
id="short-view-affiliation-4"
|
||
><sup class="key">4</sup> Department of Genetics and INSERM UMR1141, APHP-Nord Université de Paris, Robert DEBRE Hospital, Paris and ERN-ITHACA, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-5"
|
||
id="short-view-affiliation-5"
|
||
><sup class="key">5</sup> Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-6"
|
||
id="short-view-affiliation-6"
|
||
><sup class="key">6</sup> Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-7"
|
||
id="short-view-affiliation-7"
|
||
><sup class="key">7</sup> Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-8"
|
||
id="short-view-affiliation-8"
|
||
><sup class="key">8</sup> Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-9"
|
||
id="short-view-affiliation-9"
|
||
><sup class="key">9</sup> Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-10"
|
||
id="short-view-affiliation-10"
|
||
><sup class="key">10</sup> Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-11"
|
||
id="short-view-affiliation-11"
|
||
><sup class="key">11</sup> Cook Children's Health Care System, Fort Worth, TX, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-12"
|
||
id="short-view-affiliation-12"
|
||
><sup class="key">12</sup> Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-13"
|
||
id="short-view-affiliation-13"
|
||
><sup class="key">13</sup> Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-14"
|
||
id="short-view-affiliation-14"
|
||
><sup class="key">14</sup> Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-15"
|
||
id="short-view-affiliation-15"
|
||
><sup class="key">15</sup> Department of Pediatrics, Government Medical College, Kozhikode, Kerala, India.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-16"
|
||
id="short-view-affiliation-16"
|
||
><sup class="key">16</sup> Texas Children's Hospital, Houston, TX, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-17"
|
||
id="short-view-affiliation-17"
|
||
><sup class="key">17</sup> University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-18"
|
||
id="short-view-affiliation-18"
|
||
><sup class="key">18</sup> Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-19"
|
||
id="short-view-affiliation-19"
|
||
><sup class="key">19</sup> Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-20"
|
||
id="short-view-affiliation-20"
|
||
><sup class="key">20</sup> Department of Public Health and Pediatric Sciences, University of Torino, Turin, Italy.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-21"
|
||
id="short-view-affiliation-21"
|
||
><sup class="key">21</sup> Genetic department, AP-HP, Sorbonne Université, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-22"
|
||
id="short-view-affiliation-22"
|
||
><sup class="key">22</sup> Service de Génétique Clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU de Montpellier, Montpellier, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-23"
|
||
id="short-view-affiliation-23"
|
||
><sup class="key">23</sup> Department of Pathology, Centre for Genomic and Personalized Medicine, UNIROUEN Normandie University, Inserm U1245, Normandy, Rouen, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-24"
|
||
id="short-view-affiliation-24"
|
||
><sup class="key">24</sup> Département anatomie et cytologie pathologiques, CHU Toulouse, Toulouse, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-25"
|
||
id="short-view-affiliation-25"
|
||
><sup class="key">25</sup> Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-26"
|
||
id="short-view-affiliation-26"
|
||
><sup class="key">26</sup> Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Sydney, Australia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-27"
|
||
id="short-view-affiliation-27"
|
||
><sup class="key">27</sup> BC Children's Hospital Research Institute and Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-28"
|
||
id="short-view-affiliation-28"
|
||
><sup class="key">28</sup> Genetic Research Institute, University of Zulia, Maracaibo, Venezuela.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-29"
|
||
id="short-view-affiliation-29"
|
||
><sup class="key">29</sup> Medical Genetics, University of Los Andes, Mérida, Venezuela.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-30"
|
||
id="short-view-affiliation-30"
|
||
><sup class="key">30</sup> Department of Medical Genetics, Istanbul Health Science University, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-31"
|
||
id="short-view-affiliation-31"
|
||
><sup class="key">31</sup> Department of Pediatric Neurology, Hospital Quirónsalud School of Medicine, Universidad Europea, Madrid, Spain.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-32"
|
||
id="short-view-affiliation-32"
|
||
><sup class="key">32</sup> Inova Health system, Falls Church, VA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-33"
|
||
id="short-view-affiliation-33"
|
||
><sup class="key">33</sup> Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-34"
|
||
id="short-view-affiliation-34"
|
||
><sup class="key">34</sup> Medical Genetics, CHU Grenoble Alpes, Université Grenoble Alpes, Inserm, U1216, GIN, Grenoble, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-35"
|
||
id="short-view-affiliation-35"
|
||
><sup class="key">35</sup> Division of Medical Genetics, Department of Pediatrics, University of Utah Health, Salt Lake City, UT, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-36"
|
||
id="short-view-affiliation-36"
|
||
><sup class="key">36</sup> Department of Pediatrics, University of Washington, Seattle, WA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-37"
|
||
id="short-view-affiliation-37"
|
||
><sup class="key">37</sup> Brotman-Baty Institute for Precision Medicine, Seattle, WA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-38"
|
||
id="short-view-affiliation-38"
|
||
><sup class="key">38</sup> Department of Genome Sciences, University of Washington, Seattle, WA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-39"
|
||
id="short-view-affiliation-39"
|
||
><sup class="key">39</sup> Goodman Cancer Center, Department of Medicine, McGill University, Montreal, QC, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-40"
|
||
id="short-view-affiliation-40"
|
||
><sup class="key">40</sup> Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada. p.campeau@umontreal.ca.</li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div class="equal-contrib-block">
|
||
<div class="equal-contrib-explanation" id="short-view-equal-contrib-explanation"><sup class="key">#</sup> Contributed equally.</div>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<ul class="identifiers" id="short-view-identifiers">
|
||
|
||
<li>
|
||
<span class="identifier pubmed">
|
||
<span class="id-label">
|
||
|
||
PMID:
|
||
|
||
</span>
|
||
|
||
|
||
<strong class="current-id" title="PubMed ID">32424177</strong>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier pmc">
|
||
<span class="id-label">
|
||
|
||
PMCID:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=PMC7737399&id_type=PMC"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/PMC7737399/"
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMCID"
|
||
>
|
||
PMC7737399
|
||
</a>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier doi">
|
||
<span class="id-label">
|
||
|
||
DOI:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=10.1038/s41436-020-0811-8&id_type=DOI"
|
||
href="https://doi.org/10.1038/s41436-020-0811-8"
|
||
data-ga-category="full_text"
|
||
data-ga-action="DOI"
|
||
>
|
||
10.1038/s41436-020-0811-8
|
||
</a>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
</ul>
|
||
|
||
|
||
|
||
<div class="in-clipboard-label " hidden>
|
||
Item in Clipboard
|
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</div>
|
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|
||
</div>
|
||
|
||
|
||
</header>
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||
|
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<div class="actions-buttons inline"><div class="inner-wrap"><button class="full-text-links-button full-text-links-dialog-trigger"
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Full text links
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data-pubmed-format-link="/32424177/export/"><span class="button-label">Cite</span></button><button class="more-actions-button more-actions-dialog-trigger"
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</span><select name="format" data-initial-value="abstract" aria-label="Display format" id="inline-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div>
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Purpose:
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Genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome are caused by variants in the KAT6B gene and are part of a broad clinical spectrum called KAT6B disorders, whose variable expressivity is increasingly being recognized.
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We herein present the phenotypes of 32 previously unreported individuals with a molecularly confirmed diagnosis of a KAT6B disorder, report 24 new pathogenic KAT6B variants, and review phenotypic information available on all published individuals with this condition. We also suggest a classification of clinical subtypes within the KAT6B disorder spectrum.
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Results:
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We demonstrate that cerebral anomalies, optic nerve hypoplasia, neurobehavioral difficulties, and distal limb anomalies other than long thumbs and great toes, such as polydactyly, are more frequently observed than initially reported. Intestinal malrotation and its serious consequences can be present in affected individuals. Additionally, we identified four children with Pierre Robin sequence, four individuals who had increased nuchal translucency/cystic hygroma prenatally, and two fetuses with severe renal anomalies leading to renal failure. We also report an individual in which a pathogenic variant was inherited from a mildly affected parent.
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Our work provides a comprehensive review and expansion of the genotypic and phenotypic spectrum of KAT6B disorders that will assist clinicians in the assessment, counseling, and management of affected individuals.
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Keywords:
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KAT6B; KAT6B disorders; SBBYSS; Say–Barber–Biesecker–Young–Simpson syndrome; genitopatellar syndrome.
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<a href="/disclaimer/" target="_blank" data-ga-category="literature_resources"
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data-ga-action="disclaimer_link" data-ga-label="under_abstract">PubMed Disclaimer</a>
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<div class="conflict-of-interest" id="conflict-of-interest">
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Conflict of interest statement
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<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one">CONFLICT OF INTEREST</p>
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<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one">Baylor College of Medicine (BCM) and Miraca Holdings have formed a joint venture with shared ownership and governance of Baylor Genetics (BG), which performs clinical microarray analysis and clinical exome sequencing. J.R.L. serves on the Scientific Advisory Board of BG. J.R.L. has stock ownership in 23andMe, is a paid consultant for Regeneron Pharmaceuticals, and is a coinventor on multiple United States and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, and bacterial genomic fingerprinting. The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from molecular genetic testing offered in the Baylor Genetics Laboratories.</p>
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<div class="figure-caption-contents"><p> Clinical photographs of 20 newly reported individuals with <i> KAT6B </i> disorders (GPS: Genitopatellar Syndrome/SBBYSS:… </p></div>
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Figure 1:
|
||
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|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Clinical photographs of 20 newly reported individuals with <i>KAT6B</i> disorders (GPS: Genitopatellar Syndrome/SBBYSS: Say-Barber-Biesecker-Young-Simpson Syndrome/ NOS: not otherwise specified) showing: a) Facial features of affected individuals. Note the blepharophimosis, ptosis and mask-like facies in individuals with SBBYSS and the intermediate phenotype. b) Long thumbs and/or long great toes (upper left: individual 13; upper right: individual 15; lower left and lower right: individual 29). c) Flexion contractures and club feet (left: individual 24; right: individual 5). d) Absent patella in individual 5. e) Pre-axial polydactyly of the right hand in individual 25. f) Overlapping toes in individual 21. g) A newborn with GPS who died after birth at 28 weeks of gestation (Individual 8). Note the high forehead, blepharophimosis, small palpebral fissures with hypertelorism, sparse eyebrows and eyelashes, small simplified ears with bilateral pits, proximal/distal arthrogryposis and contractures of the hip/knees.</div>
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|
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|
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|
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|
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|
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|
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|
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|
||
|
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<div class="figure-caption-contents"><p> Clinical photographs of 20 newly reported individuals with <i> KAT6B </i> disorders (GPS: Genitopatellar Syndrome/SBBYSS:… </p></div>
|
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Figure 1:
|
||
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|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Clinical photographs of 20 newly reported individuals with <i>KAT6B</i> disorders (GPS: Genitopatellar Syndrome/SBBYSS: Say-Barber-Biesecker-Young-Simpson Syndrome/ NOS: not otherwise specified) showing: a) Facial features of affected individuals. Note the blepharophimosis, ptosis and mask-like facies in individuals with SBBYSS and the intermediate phenotype. b) Long thumbs and/or long great toes (upper left: individual 13; upper right: individual 15; lower left and lower right: individual 29). c) Flexion contractures and club feet (left: individual 24; right: individual 5). d) Absent patella in individual 5. e) Pre-axial polydactyly of the right hand in individual 25. f) Overlapping toes in individual 21. g) A newborn with GPS who died after birth at 28 weeks of gestation (Individual 8). Note the high forehead, blepharophimosis, small palpebral fissures with hypertelorism, sparse eyebrows and eyelashes, small simplified ears with bilateral pits, proximal/distal arthrogryposis and contractures of the hip/knees.</div>
|
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<div class="figure-caption-contents"><p> Distribution of all pathogenic variants in <i> KAT6B </i> reported in literature (upper panel) and… </p></div>
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<div class="figure-caption-contents">Distribution of all pathogenic variants in <i>KAT6B</i> reported in literature (upper panel) and 23 new variants reported in this article (lower panel) with the associated phenotype(s). GPS: Genitopatellar Syndrome/SSBYSS: Say-Barber-Biesecker-Young-Simpson Syndrome. NOS: not otherwise specified. The variant c.5624_5625del/p.Ala1876Leufs*3 reported by Gannon <i>et al</i> in 2015 has not been included in this figure, because of discordance between the reported cDNA and protein change.</div>
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Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
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<span class="docsum-authors full-authors">Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T.</span>
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A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.
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<span class="docsum-authors full-authors">Marangi G, Di Giacomo MC, Lattante S, Orteschi D, Patrizi S, Doronzio PN, Riviello FN, Vaisfeld A, Frangella S, Zollino M.</span>
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Voss AK, Thomas T. MYST family histone acetyltransferases take center stage in stem cells and development. Bioessays. 2009;31(10):1050–1061.
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Kraft M, Cirstea IC, Voss AK, et al. Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. J Clin Invest. 2011;121(9):3479–3491.
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Doyon Y, Cayrou C, Ullah M, et al. ING tumor suppressor proteins are critical regulators of chromatin acetylation required for genome expression and perpetuation. Molecular cell. 2006;21(1):51–64.
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Related information
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MedGen
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Protein (RefSeq)
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