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</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%2F33417889%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%2F33417889%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="2VKyAoVi9pCNTdxeTIhaokRvxpUirmdMjIuDdeoEJ0phNED4w1UcSsn95tCukXL6">
|
||
</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="2VKyAoVi9pCNTdxeTIhaokRvxpUirmdMjIuDdeoEJ0phNED4w1UcSsn95tCukXL6">
|
||
|
||
|
||
|
||
<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="2VKyAoVi9pCNTdxeTIhaokRvxpUirmdMjIuDdeoEJ0phNED4w1UcSsn95tCukXL6">
|
||
|
||
<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: 33417889 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 33417889"/>
|
||
<input type="hidden" name="email-subject-hash" value="60367120ee4d9f4b0880177436b23d9b9dce0ceb527b00a55ff30f555d9f5e9f"/>
|
||
</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="2VKyAoVi9pCNTdxeTIhaokRvxpUirmdMjIuDdeoEJ0phNED4w1UcSsn95tCukXL6">
|
||
|
||
|
||
|
||
<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="2VKyAoVi9pCNTdxeTIhaokRvxpUirmdMjIuDdeoEJ0phNED4w1UcSsn95tCukXL6">
|
||
|
||
|
||
|
||
<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="2VKyAoVi9pCNTdxeTIhaokRvxpUirmdMjIuDdeoEJ0phNED4w1UcSsn95tCukXL6">
|
||
|
||
<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="2VKyAoVi9pCNTdxeTIhaokRvxpUirmdMjIuDdeoEJ0phNED4w1UcSsn95tCukXL6">
|
||
|
||
|
||
|
||
<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="2VKyAoVi9pCNTdxeTIhaokRvxpUirmdMjIuDdeoEJ0phNED4w1UcSsn95tCukXL6">
|
||
|
||
<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="33417889">
|
||
<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/S0002-9297(20)30410-9"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3048&itool=Abstract-def&log$=linkouticon&uid=33417889&db=pubmed&nlmid=0370475"
|
||
title="See full text options at Elsevier Science"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Elsevier Science"
|
||
data-ga-label="33417889"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--linkinghub.elsevier.com-ihub-images-celloa.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/33417889/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=33417889&db=pubmed&nlmid=0370475"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="33417889"
|
||
><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="/33417889/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/33417889/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="33417889" 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%2F33417889%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="2VKyAoVi9pCNTdxeTIhaokRvxpUirmdMjIuDdeoEJ0phNED4w1UcSsn95tCukXL6"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label><input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-dialog-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label><select id="collections-action-dialog-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="add">
|
||
Add
|
||
</button><button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region"><button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
|
||
Display options
|
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A dyadic approach to the delineation of diagnostic entities in clinical genomics
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data-ga-label="Brian Chung">Brian Chung</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Queen Mary Hospital, LKS Faculty of Medicine, University of Hong Kong, Hong Kong, China." href="#full-view-affiliation-10" ref="linksrc=author_aff">
|
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10
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data-ga-label="Robin D Clark">Robin D Clark</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Loma Linda University School of Medicine, Department of Pediatrics, Division of Medical Genetics, Loma Linda, CA 92354, 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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data-ga-label="Timothy C Cox">Timothy C Cox</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Oral and Craniofacial Sciences, School of Dentistry and Department of Pediatrics, School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
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12
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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="Cynthia Curry">Cynthia Curry</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetic Medicine, Department of Pediatrics, University of California, Fresno, Fresno, CA 93701, USA." href="#full-view-affiliation-13" ref="linksrc=author_aff">
|
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13
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data-ga-label="Mary Beth Palko Dinulos">Mary Beth Palko Dinulos</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Geisel School of Medicine at Dartmouth, Department of Pediatrics, Section of Genetics and Child Development, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756, USA." href="#full-view-affiliation-14" ref="linksrc=author_aff">
|
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14
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data-ga-label="William B Dobyns">William B Dobyns</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics, Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
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15
|
||
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data-ga-label="Philip F Giampietro">Philip F Giampietro</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901, 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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data-ga-label="Katta M Girisha">Katta M Girisha</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India." 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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data-ga-label="Ian A Glass">Ian A Glass</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics and Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA." href="#full-view-affiliation-18" ref="linksrc=author_aff">
|
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18
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||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Graham+JM+Jr&cauthor_id=33417889"
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data-ga-label="John M Graham Jr">John M Graham Jr</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Cedars-Sinai Medical Center and Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA." href="#full-view-affiliation-19" ref="linksrc=author_aff">
|
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19
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href="/?term=Gripp+KW&cauthor_id=33417889"
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data-ga-label="Karen W Gripp">Karen W Gripp</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics, Department of Pediatrics, AI DuPont Hospital for Children/Nemours, Wilmington, DE 19803, USA." href="#full-view-affiliation-20" ref="linksrc=author_aff">
|
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20
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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=Haldeman-Englert+CR&cauthor_id=33417889"
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data-ga-label="Chad R Haldeman-Englert">Chad R Haldeman-Englert</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Mission Fullerton Genetics Center, Asheville, NC 28803, USA." href="#full-view-affiliation-21" ref="linksrc=author_aff">
|
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21
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href="/?term=Hall+BD&cauthor_id=33417889"
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data-ga-label="Bryan D Hall">Bryan D Hall</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Greenwood Genetic Center, Greenwood, SC 29646, USA." href="#full-view-affiliation-22" ref="linksrc=author_aff">
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22
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Innes+AM&cauthor_id=33417889"
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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, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada." href="#full-view-affiliation-23" ref="linksrc=author_aff">
|
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23
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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=Kalish+JM&cauthor_id=33417889"
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data-ga-label="Jennifer M Kalish">Jennifer M Kalish</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 19104, USA; Departments of Pediatrics and Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA." href="#full-view-affiliation-24" ref="linksrc=author_aff">
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24
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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=Keppler-Noreuil+KM&cauthor_id=33417889"
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data-ga-label="Kim M Keppler-Noreuil">Kim M Keppler-Noreuil</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics, Children's National Medical Center, Washington, DC 20010, USA." href="#full-view-affiliation-25" ref="linksrc=author_aff">
|
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25
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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=Kosaki+K&cauthor_id=33417889"
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data-ga-label="Kenjiro Kosaki">Kenjiro Kosaki</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Keio University School of Medicine, Tokyo 160-8582, Japan." href="#full-view-affiliation-26" ref="linksrc=author_aff">
|
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26
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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="Beth A Kozel">Beth A Kozel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Translational Vascular Medicine Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA." href="#full-view-affiliation-27" ref="linksrc=author_aff">
|
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27
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Mirzaa+GM&cauthor_id=33417889"
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data-ga-label="Ghayda M Mirzaa">Ghayda M Mirzaa</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA." href="#full-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=Mulvihill+JJ&cauthor_id=33417889"
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data-ga-label="John J Mulvihill">John J Mulvihill</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; National Human Genome Research Institute, Bethesda, MD 20892, USA." href="#full-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=Nowaczyk+MJM&cauthor_id=33417889"
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data-ga-label="Malgorzata J M Nowaczyk">Malgorzata J M Nowaczyk</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Molecular Medicine & Pathology and Pediatrics, McMaster University, Hamilton, ON L8S 3K9, Canada." href="#full-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=Pagon+RA&cauthor_id=33417889"
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data-ga-label="Roberta A Pagon">Roberta A Pagon</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Retterer+K&cauthor_id=33417889"
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data-ga-label="Kyle Retterer">Kyle Retterer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="GeneDx, Gaithersburg, MD 20877, USA." href="#full-view-affiliation-31" ref="linksrc=author_aff">
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31
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data-ga-label="Alan F Rope">Alan F Rope</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genome Medical, South San Francisco, CA 94080, USA." href="#full-view-affiliation-32" ref="linksrc=author_aff">
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32
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href="/?term=Sanchez-Lara+PA&cauthor_id=33417889"
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data-ga-label="Pedro A Sanchez-Lara">Pedro A Sanchez-Lara</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Cedars-Sinai Medical Center and David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90048, USA." href="#full-view-affiliation-33" ref="linksrc=author_aff">
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33
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href="/?term=Seaver+LH&cauthor_id=33417889"
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data-ga-label="Laurie H Seaver">Laurie H Seaver</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Spectrum Health Medical Genetics and Genomics/Helen Devos Children's Hospital, Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI 49503, USA." href="#full-view-affiliation-34" ref="linksrc=author_aff">
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34
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href="/?term=Shieh+JT&cauthor_id=33417889"
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data-ga-label="Joseph T Shieh">Joseph T Shieh</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, USA." href="#full-view-affiliation-35" ref="linksrc=author_aff">
|
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35
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href="/?term=Slavotinek+AM&cauthor_id=33417889"
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data-ga-label="Anne M Slavotinek">Anne M Slavotinek</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, USA." href="#full-view-affiliation-35" ref="linksrc=author_aff">
|
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35
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data-ga-label="Andrew K Sobering">Andrew K Sobering</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada." href="#full-view-affiliation-36" ref="linksrc=author_aff">
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36
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data-ga-label="Cathy A Stevens">Cathy A Stevens</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, 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="David A Stevenson">David A Stevenson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA 94305, 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=Tan+TY&cauthor_id=33417889"
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data-ga-label="Tiong Yang Tan">Tiong Yang Tan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia." 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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href="/?term=Tan+WH&cauthor_id=33417889"
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data-ga-label="Wen-Hann Tan">Wen-Hann Tan</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, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA." href="#full-view-affiliation-40" ref="linksrc=author_aff">
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40
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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=Tsai+AC&cauthor_id=33417889"
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data-ga-label="Anne C Tsai">Anne C Tsai</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA." href="#full-view-affiliation-41" ref="linksrc=author_aff">
|
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41
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Weaver+DD&cauthor_id=33417889"
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data-ga-label="David D Weaver">David D Weaver</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut Street, Indianapolis, IN 46202, USA." href="#full-view-affiliation-42" ref="linksrc=author_aff">
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44
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45
|
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</a></sup></span>
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Affiliations
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<li data-affiliation-id="full-view-affiliation-1"
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id="full-view-affiliation-1"
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><sup class="key">1</sup> Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: lesb@mail.nih.gov.</li>
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<li data-affiliation-id="full-view-affiliation-2"
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><sup class="key">2</sup> Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA.</li>
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<li data-affiliation-id="full-view-affiliation-3"
|
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id="full-view-affiliation-3"
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><sup class="key">3</sup> Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.</li>
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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> Computercraft Corporation, McLean, VA 20005, USA.</li>
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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 Pediatrics and Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.</li>
|
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|
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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> Pediatric Genetic Medicine Service, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98015, USA.</li>
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<li data-affiliation-id="full-view-affiliation-7"
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><sup class="key">7</sup> Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute and Division Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98101, 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, University of California San Diego, San Diego 92123, USA; Rady Children's Hospital, San Diego, CA 92123, 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> Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.</li>
|
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|
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id="full-view-affiliation-10"
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><sup class="key">10</sup> Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Queen Mary Hospital, LKS Faculty of Medicine, University of Hong Kong, Hong Kong, China.</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> Loma Linda University School of Medicine, Department of Pediatrics, Division of Medical Genetics, Loma Linda, CA 92354, 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 Oral and Craniofacial Sciences, School of Dentistry and Department of Pediatrics, School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA.</li>
|
||
|
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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> Genetic Medicine, Department of Pediatrics, University of California, Fresno, Fresno, CA 93701, USA.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-14"
|
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id="full-view-affiliation-14"
|
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><sup class="key">14</sup> The Geisel School of Medicine at Dartmouth, Department of Pediatrics, Section of Genetics and Child Development, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756, USA.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-15"
|
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id="full-view-affiliation-15"
|
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><sup class="key">15</sup> Division of Genetics, Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-16"
|
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id="full-view-affiliation-16"
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><sup class="key">16</sup> Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901, USA.</li>
|
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|
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<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> Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.</li>
|
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|
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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> Department of Pediatrics and Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.</li>
|
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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> Cedars-Sinai Medical Center and Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.</li>
|
||
|
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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> Division of Medical Genetics, Department of Pediatrics, AI DuPont Hospital for Children/Nemours, Wilmington, DE 19803, USA.</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> Mission Fullerton Genetics Center, Asheville, NC 28803, USA.</li>
|
||
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<li data-affiliation-id="full-view-affiliation-22"
|
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id="full-view-affiliation-22"
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><sup class="key">22</sup> Greenwood Genetic Center, Greenwood, SC 29646, USA.</li>
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<li data-affiliation-id="full-view-affiliation-23"
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id="full-view-affiliation-23"
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><sup class="key">23</sup> Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada.</li>
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<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> Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Departments of Pediatrics and Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.</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> Division of Genetics, Children's National Medical Center, Washington, DC 20010, USA.</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> Keio University School of Medicine, Tokyo 160-8582, Japan.</li>
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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> Translational Vascular Medicine Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.</li>
|
||
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<li data-affiliation-id="full-view-affiliation-28"
|
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id="full-view-affiliation-28"
|
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><sup class="key">28</sup> Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-29"
|
||
id="full-view-affiliation-29"
|
||
><sup class="key">29</sup> University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; National Human Genome Research Institute, Bethesda, MD 20892, USA.</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> Molecular Medicine & Pathology and Pediatrics, McMaster University, Hamilton, ON L8S 3K9, Canada.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-31"
|
||
id="full-view-affiliation-31"
|
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><sup class="key">31</sup> GeneDx, Gaithersburg, MD 20877, USA.</li>
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<li data-affiliation-id="full-view-affiliation-32"
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id="full-view-affiliation-32"
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><sup class="key">32</sup> Genome Medical, South San Francisco, CA 94080, USA.</li>
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<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, Cedars-Sinai Medical Center and David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90048, USA.</li>
|
||
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<li data-affiliation-id="full-view-affiliation-34"
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id="full-view-affiliation-34"
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><sup class="key">34</sup> Spectrum Health Medical Genetics and Genomics/Helen Devos Children's Hospital, Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI 49503, USA.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-35"
|
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id="full-view-affiliation-35"
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><sup class="key">35</sup> Institute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, USA.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-36"
|
||
id="full-view-affiliation-36"
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><sup class="key">36</sup> Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.</li>
|
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<li data-affiliation-id="full-view-affiliation-37"
|
||
id="full-view-affiliation-37"
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><sup class="key">37</sup> Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA.</li>
|
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<li data-affiliation-id="full-view-affiliation-38"
|
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id="full-view-affiliation-38"
|
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><sup class="key">38</sup> Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA 94305, USA.</li>
|
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<li data-affiliation-id="full-view-affiliation-39"
|
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id="full-view-affiliation-39"
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><sup class="key">39</sup> Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.</li>
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<li data-affiliation-id="full-view-affiliation-40"
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><sup class="key">44</sup> Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA 19104, USA.</li>
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><sup class="key">45</sup> Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.</li>
|
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<h1 class="heading-title">
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|
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A dyadic approach to the delineation of diagnostic entities in clinical genomics
|
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</h1>
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<span class="authors-list-item "><span class="full-name">Leslie G Biesecker</span><span class="citation-separator"> et al.</span></span>
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data-ga-label="John J Mulvihill">John J Mulvihill</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; National Human Genome Research Institute, Bethesda, MD 20892, USA." href="#short-view-affiliation-29" ref="linksrc=author_aff">
|
||
29
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Nowaczyk+MJM&cauthor_id=33417889"
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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="Malgorzata J M Nowaczyk">Malgorzata J M Nowaczyk</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Molecular Medicine & Pathology and Pediatrics, McMaster University, Hamilton, ON L8S 3K9, Canada." href="#short-view-affiliation-30" ref="linksrc=author_aff">
|
||
30
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Pagon+RA&cauthor_id=33417889"
|
||
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="Roberta A Pagon">Roberta A Pagon</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA." href="#short-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Retterer+K&cauthor_id=33417889"
|
||
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="Kyle Retterer">Kyle Retterer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="GeneDx, Gaithersburg, MD 20877, USA." href="#short-view-affiliation-31" ref="linksrc=author_aff">
|
||
31
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Rope+AF&cauthor_id=33417889"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
|
||
data-ga-label="Alan F Rope">Alan F Rope</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genome Medical, South San Francisco, CA 94080, USA." href="#short-view-affiliation-32" ref="linksrc=author_aff">
|
||
32
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Sanchez-Lara+PA&cauthor_id=33417889"
|
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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="Pedro A Sanchez-Lara">Pedro A Sanchez-Lara</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Cedars-Sinai Medical Center and David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90048, 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=Seaver+LH&cauthor_id=33417889"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
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data-ga-action="author_link"
|
||
data-ga-label="Laurie H Seaver">Laurie H Seaver</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Spectrum Health Medical Genetics and Genomics/Helen Devos Children's Hospital, Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI 49503, USA." 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"
|
||
href="/?term=Shieh+JT&cauthor_id=33417889"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
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data-ga-action="author_link"
|
||
data-ga-label="Joseph T Shieh">Joseph T Shieh</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, 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=Slavotinek+AM&cauthor_id=33417889"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Anne M Slavotinek">Anne M Slavotinek</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, 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=Sobering+AK&cauthor_id=33417889"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Andrew K Sobering">Andrew K Sobering</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada." href="#short-view-affiliation-36" ref="linksrc=author_aff">
|
||
36
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Stevens+CA&cauthor_id=33417889"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Cathy A Stevens">Cathy A Stevens</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, 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=Stevenson+DA&cauthor_id=33417889"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="David A Stevenson">David A Stevenson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA 94305, 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=Tan+TY&cauthor_id=33417889"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Tiong Yang Tan">Tiong Yang Tan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia." 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=Tan+WH&cauthor_id=33417889"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Wen-Hann Tan">Wen-Hann Tan</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, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA." href="#short-view-affiliation-40" ref="linksrc=author_aff">
|
||
40
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Tsai+AC&cauthor_id=33417889"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Anne C Tsai">Anne C Tsai</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA." href="#short-view-affiliation-41" ref="linksrc=author_aff">
|
||
41
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Weaver+DD&cauthor_id=33417889"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="David D Weaver">David D Weaver</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut Street, Indianapolis, IN 46202, USA." href="#short-view-affiliation-42" ref="linksrc=author_aff">
|
||
42
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Williams+MS&cauthor_id=33417889"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Marc S Williams">Marc S Williams</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA." href="#short-view-affiliation-43" ref="linksrc=author_aff">
|
||
43
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Zackai+E&cauthor_id=33417889"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
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, Department of Pediatrics, Children's Hospital of Philadelphia, PA 19104, USA." href="#short-view-affiliation-44" ref="linksrc=author_aff">
|
||
44
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Zarate+YA&cauthor_id=33417889"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
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="Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA." href="#short-view-affiliation-45" ref="linksrc=author_aff">
|
||
45
|
||
</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> Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: lesb@mail.nih.gov.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-2"
|
||
id="short-view-affiliation-2"
|
||
><sup class="key">2</sup> Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-3"
|
||
id="short-view-affiliation-3"
|
||
><sup class="key">3</sup> Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-4"
|
||
id="short-view-affiliation-4"
|
||
><sup class="key">4</sup> Computercraft Corporation, McLean, VA 20005, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-5"
|
||
id="short-view-affiliation-5"
|
||
><sup class="key">5</sup> Department of Pediatrics and Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-6"
|
||
id="short-view-affiliation-6"
|
||
><sup class="key">6</sup> Pediatric Genetic Medicine Service, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98015, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-7"
|
||
id="short-view-affiliation-7"
|
||
><sup class="key">7</sup> Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute and Division Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-8"
|
||
id="short-view-affiliation-8"
|
||
><sup class="key">8</sup> Department of Pediatrics, University of California San Diego, San Diego 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-9"
|
||
id="short-view-affiliation-9"
|
||
><sup class="key">9</sup> Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-10"
|
||
id="short-view-affiliation-10"
|
||
><sup class="key">10</sup> Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Queen Mary Hospital, LKS Faculty of Medicine, University of Hong Kong, Hong Kong, China.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-11"
|
||
id="short-view-affiliation-11"
|
||
><sup class="key">11</sup> Loma Linda University School of Medicine, Department of Pediatrics, Division of Medical Genetics, Loma Linda, CA 92354, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-12"
|
||
id="short-view-affiliation-12"
|
||
><sup class="key">12</sup> Department of Oral and Craniofacial Sciences, School of Dentistry and Department of Pediatrics, School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-13"
|
||
id="short-view-affiliation-13"
|
||
><sup class="key">13</sup> Genetic Medicine, Department of Pediatrics, University of California, Fresno, Fresno, CA 93701, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-14"
|
||
id="short-view-affiliation-14"
|
||
><sup class="key">14</sup> The Geisel School of Medicine at Dartmouth, Department of Pediatrics, Section of Genetics and Child Development, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-15"
|
||
id="short-view-affiliation-15"
|
||
><sup class="key">15</sup> Division of Genetics, Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-16"
|
||
id="short-view-affiliation-16"
|
||
><sup class="key">16</sup> Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-17"
|
||
id="short-view-affiliation-17"
|
||
><sup class="key">17</sup> Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-18"
|
||
id="short-view-affiliation-18"
|
||
><sup class="key">18</sup> Department of Pediatrics and Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-19"
|
||
id="short-view-affiliation-19"
|
||
><sup class="key">19</sup> Cedars-Sinai Medical Center and Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-20"
|
||
id="short-view-affiliation-20"
|
||
><sup class="key">20</sup> Division of Medical Genetics, Department of Pediatrics, AI DuPont Hospital for Children/Nemours, Wilmington, DE 19803, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-21"
|
||
id="short-view-affiliation-21"
|
||
><sup class="key">21</sup> Mission Fullerton Genetics Center, Asheville, NC 28803, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-22"
|
||
id="short-view-affiliation-22"
|
||
><sup class="key">22</sup> Greenwood Genetic Center, Greenwood, SC 29646, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-23"
|
||
id="short-view-affiliation-23"
|
||
><sup class="key">23</sup> Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-24"
|
||
id="short-view-affiliation-24"
|
||
><sup class="key">24</sup> Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Departments of Pediatrics and Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-25"
|
||
id="short-view-affiliation-25"
|
||
><sup class="key">25</sup> Division of Genetics, Children's National Medical Center, Washington, DC 20010, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-26"
|
||
id="short-view-affiliation-26"
|
||
><sup class="key">26</sup> Keio University School of Medicine, Tokyo 160-8582, Japan.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-27"
|
||
id="short-view-affiliation-27"
|
||
><sup class="key">27</sup> Translational Vascular Medicine Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-28"
|
||
id="short-view-affiliation-28"
|
||
><sup class="key">28</sup> Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-29"
|
||
id="short-view-affiliation-29"
|
||
><sup class="key">29</sup> University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; National Human Genome Research Institute, Bethesda, MD 20892, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-30"
|
||
id="short-view-affiliation-30"
|
||
><sup class="key">30</sup> Molecular Medicine & Pathology and Pediatrics, McMaster University, Hamilton, ON L8S 3K9, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-31"
|
||
id="short-view-affiliation-31"
|
||
><sup class="key">31</sup> GeneDx, Gaithersburg, MD 20877, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-32"
|
||
id="short-view-affiliation-32"
|
||
><sup class="key">32</sup> Genome Medical, South San Francisco, CA 94080, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-33"
|
||
id="short-view-affiliation-33"
|
||
><sup class="key">33</sup> Department of Pediatrics, Cedars-Sinai Medical Center and David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90048, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-34"
|
||
id="short-view-affiliation-34"
|
||
><sup class="key">34</sup> Spectrum Health Medical Genetics and Genomics/Helen Devos Children's Hospital, Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI 49503, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-35"
|
||
id="short-view-affiliation-35"
|
||
><sup class="key">35</sup> Institute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-36"
|
||
id="short-view-affiliation-36"
|
||
><sup class="key">36</sup> Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.</li>
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|
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<li data-affiliation-id="short-view-affiliation-37"
|
||
id="short-view-affiliation-37"
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><sup class="key">37</sup> Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-38"
|
||
id="short-view-affiliation-38"
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||
><sup class="key">38</sup> Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA 94305, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-39"
|
||
id="short-view-affiliation-39"
|
||
><sup class="key">39</sup> Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-40"
|
||
id="short-view-affiliation-40"
|
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><sup class="key">40</sup> Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-41"
|
||
id="short-view-affiliation-41"
|
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><sup class="key">41</sup> Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-42"
|
||
id="short-view-affiliation-42"
|
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><sup class="key">42</sup> Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut Street, Indianapolis, IN 46202, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-43"
|
||
id="short-view-affiliation-43"
|
||
><sup class="key">43</sup> Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-44"
|
||
id="short-view-affiliation-44"
|
||
><sup class="key">44</sup> Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA 19104, USA.</li>
|
||
|
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<li data-affiliation-id="short-view-affiliation-45"
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||
id="short-view-affiliation-45"
|
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><sup class="key">45</sup> Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.</li>
|
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</ul>
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</div>
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<span class="identifier pubmed">
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PMID:
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<strong class="current-id" title="PubMed ID">33417889</strong>
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PMCID:
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rel="noopener"
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ref="linksrc=article_id_link&article_id=PMC7820621&id_type=PMC"
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href="https://pmc.ncbi.nlm.nih.gov/articles/PMC7820621/"
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data-ga-category="full_text"
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PMC7820621
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<span class="identifier doi">
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DOI:
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<a class="id-link"
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target="_blank"
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rel="noopener"
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ref="linksrc=article_id_link&article_id=10.1016/j.ajhg.2020.11.013&id_type=DOI"
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href="https://doi.org/10.1016/j.ajhg.2020.11.013"
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data-ga-category="full_text"
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data-ga-action="DOI"
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>
|
||
10.1016/j.ajhg.2020.11.013
|
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</span>
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Item in Clipboard
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</header>
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||
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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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title="Open dialog with full text links"
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ref="linksrc=full_text_links">
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Full text links
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</button><button class="citation-button citation-dialog-trigger"
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title="Open dialog with more actions to take"
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ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
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data-default-format-value="abstract"
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class="trigger usa-button"
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title="Change format"
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data-ga-category="display_options"
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data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
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Display options
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</div><div class="content"><div class="format-container"><span class="option-label">
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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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Abstract
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<p>
|
||
|
||
The delineation of disease entities is complex, yet recent advances in the molecular characterization of diseases provide opportunities to designate diseases in a biologically valid manner. Here, we have formalized an approach to the delineation of Mendelian genetic disorders that encompasses two distinct but inter-related concepts: (1) the gene that is mutated and (2) the phenotypic descriptor, preferably a recognizably distinct phenotype. We assert that only by a combinatorial or dyadic approach taking both of these attributes into account can a unitary, distinct genetic disorder be designated. We propose that all Mendelian disorders should be designated as "GENE-related phenotype descriptor" (e.g., "CFTR-related cystic fibrosis"). This approach to delineating and naming disorders reconciles the complexity of gene-to-phenotype relationships in a simple and clear manner yet communicates the complexity and nuance of these relationships.
|
||
</p>
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<p class="copyright" id="copyright">
|
||
Copyright © 2020 American Society of Human Genetics. All rights reserved.
|
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</p>
|
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|
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<p class="disclaimer" id="disclaimer">
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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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</p>
|
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|
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<div class="conflict-of-interest" id="conflict-of-interest">
|
||
<h2 class="title">
|
||
Conflict of interest statement
|
||
</h2>
|
||
|
||
<div class="statement">
|
||
|
||
|
||
|
||
<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one">L.G.B. receives in-kind research support from ArQule (now a wholly owned subsidiary of Merck) and Pfizer and receives honoraria from Cold Spring Harbor Press. K.W.G. is Chief Medical Officer for FDN (Face to DNA). K.R. is an employee of GeneDx, a subsidiary of Opko Health, and a shareholder of Opko Health. The other authors declare no competing interests.</p>
|
||
|
||
|
||
</div>
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||
</div>
|
||
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||
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||
|
||
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|
||
|
||
|
||
|
||
<div class="linked-articles" id="linked-commentary">
|
||
<h2 class="title">
|
||
Comment in
|
||
</h2>
|
||
<ul class="item-list usa-unstyled-list">
|
||
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<li class="full-docsum">
|
||
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||
<div class="docsum-content" style="display:inline;">
|
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<a class="docsum-title"
|
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href="/34478655/"
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ref="article_id=34478655&linksrc=comments_link"
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Response to Biesecker et al.
|
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</a>
|
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<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Hamosh A, Amberger JS, Bocchini CA, Bodurtha J, Bult CJ, Chute CG, Cutting GR, Dietz HC, Firth HV, Gibbs RA, Grody WW, Haendel MA, Lupski JR, Posey JE, Robinson PN, Schriml LM, Scott AF, Sobreira NL, Valle D, Wu N, Rasmussen SA.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Hamosh A, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Am J Hum Genet. 2021 Sep 2;108(9):1807-1808. doi: 10.1016/j.ajhg.2021.07.004.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Am J Hum Genet. 2021.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">34478655</span></span>
|
||
<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
|
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|
||
|
||
|
||
|
||
|
||
<span class="no-abstract spaced-citation-item citation-part">No abstract available.</span>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
</li>
|
||
|
||
|
||
|
||
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||
|
||
|
||
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||
|
||
|
||
<li class="full-docsum">
|
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|
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<div class="docsum-content" style="display:inline;">
|
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|
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href="/34478656/"
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Response to Hamosh et al.
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</a>
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<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Biesecker LG, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Am J Hum Genet. 2021 Sep 2;108(9):1809-1810. doi: 10.1016/j.ajhg.2021.07.006.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Am J Hum Genet. 2021.</span>
|
||
|
||
|
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<span class="citation-part">PMID: <span class="docsum-pmid">34478656</span></span>
|
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<span class="free-resources spaced-citation-item citation-part">Free PMC article.</span>
|
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|
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|
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|
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|
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|
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<span class="no-abstract spaced-citation-item citation-part">No abstract available.</span>
|
||
</div>
|
||
|
||
</div>
|
||
|
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</li>
|
||
|
||
|
||
|
||
|
||
|
||
</ul>
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</div>
|
||
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|
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||
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Precision Genomic Medicine in Cystic Fibrosis.
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|
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||
|
||
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||
|
||
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</div>
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</div>
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||
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</li>
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<li class="full-docsum">
|
||
|
||
<div class="docsum-content" style="display:inline;">
|
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|
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||
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|
||
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|
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<span class="docsum-authors short-authors">Bozdogan ST, et al.</span>
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</li>
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Genotype
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