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<!DOCTYPE html> <html > <head> <meta charset="utf-8"> <meta rel="search" type="application/opensearchdescription+xml" href="/open_search.xml" title="Academia.edu"> <meta content="width=device-width, initial-scale=1" name="viewport"> <meta name="google-site-verification" content="bKJMBZA7E43xhDOopFZkssMMkBRjvYERV-NaN4R6mrs"> <meta name="csrf-param" content="authenticity_token" /> <meta name="csrf-token" content="7cBAidRNeYeUDiKCWQ1RBZbA-YaBYIxK6b9b7CTRS45iLG7Mc68GPnFEC9E1bT18oLjnGFAL6i768Kit2s5vXQ" /> <meta name="citation_title" content="FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population" /> <meta name="citation_journal_title" content="Genes" /> <meta name="citation_author" content="Qingjiong Zhang" /> <meta name="twitter:card" content="summary" /> <meta name="twitter:url" content="https://www.academia.edu/126098723/FDXR_Associated_Oculopathy_Congenital_Amaurosis_and_Early_Onset_Severe_Retinal_Dystrophy_as_Common_Presenting_Features_in_a_Chinese_Population" /> <meta name="twitter:title" content="FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population" /> <meta name="twitter:description" content="Variants in FDXR reportedly cause autosomal recessive auditory neuropathy and optic atrophy, expanding to retinal dystrophy. This study aimed to further clarify associated phenotypes. FDXR variants were selected from our in-house whole-exome" /> <meta name="twitter:image" content="http://a.academia-assets.com/images/twitter-card.jpeg" /> <meta property="fb:app_id" content="2369844204" /> <meta property="og:type" content="article" /> <meta property="og:url" content="https://www.academia.edu/126098723/FDXR_Associated_Oculopathy_Congenital_Amaurosis_and_Early_Onset_Severe_Retinal_Dystrophy_as_Common_Presenting_Features_in_a_Chinese_Population" /> <meta property="og:title" content="FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population" /> <meta property="og:image" content="http://a.academia-assets.com/images/open-graph-icons/fb-paper.gif" /> <meta property="og:description" content="Variants in FDXR reportedly cause autosomal recessive auditory neuropathy and optic atrophy, expanding to retinal dystrophy. This study aimed to further clarify associated phenotypes. FDXR variants were selected from our in-house whole-exome" /> <meta property="article:author" content="https://independent.academia.edu/QingjiongZhang" /> <meta name="description" content="Variants in FDXR reportedly cause autosomal recessive auditory neuropathy and optic atrophy, expanding to retinal dystrophy. This study aimed to further clarify associated phenotypes. FDXR variants were selected from our in-house whole-exome" /> <title>(PDF) FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population</title> <link rel="canonical" href="https://www.academia.edu/126098723/FDXR_Associated_Oculopathy_Congenital_Amaurosis_and_Early_Onset_Severe_Retinal_Dystrophy_as_Common_Presenting_Features_in_a_Chinese_Population" /> <script async src="https://www.googletagmanager.com/gtag/js?id=G-5VKX33P2DS"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-5VKX33P2DS', { cookie_domain: 'academia.edu', send_page_view: false, }); gtag('event', 'page_view', { 'controller': "single_work", 'action': "show", 'controller_action': 'single_work#show', 'logged_in': 'false', 'edge': 'unknown', // Send nil if there is no A/B test bucket, in case some records get logged // with missing data - that way we can distinguish between the two cases. // ab_test_bucket should be of the form <ab_test_name>:<bucket> 'ab_test_bucket': null, }) </script> <script> var $controller_name = 'single_work'; var $action_name = "show"; var $rails_env = 'production'; var $app_rev = '1363409c2f6920b9f6129801bf9c25a45dc9d4a3'; var $domain = 'academia.edu'; var $app_host = "academia.edu"; var $asset_host = "academia-assets.com"; var $start_time = new Date().getTime(); var $recaptcha_key = "6LdxlRMTAAAAADnu_zyLhLg0YF9uACwz78shpjJB"; var $recaptcha_invisible_key = "6Lf3KHUUAAAAACggoMpmGJdQDtiyrjVlvGJ6BbAj"; var $disableClientRecordHit = false; </script> <script> window.require = { config: function() { return function() {} } } </script> <script> window.Aedu = window.Aedu || {}; window.Aedu.hit_data = null; window.Aedu.serverRenderTime = new Date(1740152325000); window.Aedu.timeDifference = new Date().getTime() - 1740152325000; </script> <script type="application/ld+json">{"@context":"https://schema.org","@type":"ScholarlyArticle","abstract":"Variants in FDXR reportedly cause autosomal recessive auditory neuropathy and optic atrophy, expanding to retinal dystrophy. This study aimed to further clarify associated phenotypes. FDXR variants were selected from our in-house whole-exome sequencing dataset of 6397 families with different eye conditions. The clinical data of the identified patients were summarized. Biallelic pathogenic or likely pathogenic FDXR variants were identified in 11 unrelated patients, including 14 missense variants of which 10 were novel. Fundus observation showed complete optic disc pallor, silver wiring or severe attenuation of retinal vessels, and varying degrees of generalized retinal degeneration. Before the detection of FDXR variants, four patients were clinically diagnosed as congenital amaurosis due to the presence of nystagmus a few months after birth, while seven were diagnosed as early-onset severe retinal dystrophy due to the presence of nyctalopia and/or poor vision in early childhood. Bial...","author":[{"@context":"https://schema.org","@type":"Person","name":"Qingjiong Zhang","url":"https://independent.academia.edu/QingjiongZhang"}],"contributor":[],"dateCreated":"2024-12-05","dateModified":"2024-12-05","headline":"FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population","image":"https://attachments.academia-assets.com/120028296/thumbnails/1.jpg","inLanguage":"en","keywords":["Medicine","Genes","Dystrophy"],"publication":"Genes","publisher":{"@context":"https://schema.org","@type":"Organization","name":"MDPI AG"},"sourceOrganization":[{"@context":"https://schema.org","@type":"EducationalOrganization","name":null}],"thumbnailUrl":"https://attachments.academia-assets.com/120028296/thumbnails/1.jpg","url":"https://www.academia.edu/126098723/FDXR_Associated_Oculopathy_Congenital_Amaurosis_and_Early_Onset_Severe_Retinal_Dystrophy_as_Common_Presenting_Features_in_a_Chinese_Population"}</script><style type="text/css">@media(max-width: 567px){:root{--token-mode: Rebrand;--dropshadow: 0 2px 4px 0 #22223340;--primary-brand: #0645b1;--error-dark: #b60000;--success-dark: #05b01c;--inactive-fill: #ebebee;--hover: #0c3b8d;--pressed: #082f75;--button-primary-fill-inactive: #ebebee;--button-primary-fill: #0645b1;--button-primary-text: #ffffff;--button-primary-fill-hover: #0c3b8d;--button-primary-fill-press: #082f75;--button-primary-icon: #ffffff;--button-primary-fill-inverse: #ffffff;--button-primary-text-inverse: #082f75;--button-primary-icon-inverse: #0645b1;--button-primary-fill-inverse-hover: 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"https://www.academia.edu/login?post_login_redirect_url=https%3A%2F%2Fwww.academia.edu%2F126098723%2FFDXR_Associated_Oculopathy_Congenital_Amaurosis_and_Early_Onset_Severe_Retinal_Dystrophy_as_Common_Presenting_Features_in_a_Chinese_Population%3Fshow_translation%3Dtrue"; window.loswp.previewableAttachments = [{"id":120028296,"identifier":"Attachment_120028296","shouldShowBulkDownload":false}]; window.loswp.shouldDetectTimezone = true; window.loswp.shouldShowBulkDownload = true; window.loswp.showSignupCaptcha = false window.loswp.willEdgeCache = false; window.loswp.work = {"work":{"id":126098723,"created_at":"2024-12-05T17:11:55.789-08:00","from_world_paper_id":261612004,"updated_at":"2024-12-05T17:35:05.695-08:00","_data":{"abstract":"Variants in FDXR reportedly cause autosomal recessive auditory neuropathy and optic atrophy, expanding to retinal dystrophy. This study aimed to further clarify associated phenotypes. FDXR variants were selected from our in-house whole-exome sequencing dataset of 6397 families with different eye conditions. The clinical data of the identified patients were summarized. Biallelic pathogenic or likely pathogenic FDXR variants were identified in 11 unrelated patients, including 14 missense variants of which 10 were novel. Fundus observation showed complete optic disc pallor, silver wiring or severe attenuation of retinal vessels, and varying degrees of generalized retinal degeneration. Before the detection of FDXR variants, four patients were clinically diagnosed as congenital amaurosis due to the presence of nystagmus a few months after birth, while seven were diagnosed as early-onset severe retinal dystrophy due to the presence of nyctalopia and/or poor vision in early childhood. Bial...","publisher":"MDPI AG","publication_name":"Genes"},"document_type":"paper","pre_hit_view_count_baseline":null,"quality":"high","language":"en","title":"FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population","broadcastable":false,"draft":null,"has_indexable_attachment":true,"indexable":true}}["work"]; window.loswp.workCoauthors = [45139348]; window.loswp.locale = "en"; window.loswp.countryCode = "SG"; window.loswp.cwvAbTestBucket = ""; window.loswp.designVariant = "ds_vanilla"; window.loswp.fullPageMobileSutdModalVariant = "full_page_mobile_sutd_modal"; window.loswp.useOptimizedScribd4genScript = false; window.loginModal = {}; window.loginModal.appleClientId = 'edu.academia.applesignon'; window.userInChina = "false";</script><script defer="" src="https://accounts.google.com/gsi/client"></script><div class="ds-loswp-container"><div class="ds-work-card--grid-container"><div class="ds-work-card--container js-loswp-work-card"><div class="ds-work-card--cover"><div class="ds-work-cover--wrapper"><div class="ds-work-cover--container"><button class="ds-work-cover--clickable js-swp-download-button" data-signup-modal="{"location":"swp-splash-paper-cover","attachmentId":120028296,"attachmentType":"pdf"}"><img alt="First page of “FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population”" class="ds-work-cover--cover-thumbnail" src="https://0.academia-photos.com/attachment_thumbnails/120028296/mini_magick20241206-1-vwx0td.png?1733447532" /><img alt="PDF Icon" class="ds-work-cover--file-icon" src="//a.academia-assets.com/images/single_work_splash/adobe_icon.svg" /><div class="ds-work-cover--hover-container"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span><p>Download Free PDF</p></div><div class="ds-work-cover--ribbon-container">Download Free PDF</div><div class="ds-work-cover--ribbon-triangle"></div></button></div></div></div><div class="ds-work-card--work-information"><h1 class="ds-work-card--work-title">FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population</h1><div class="ds-work-card--work-authors ds-work-card--detail"><a class="ds-work-card--author js-wsj-grid-card-author ds2-5-body-md ds2-5-body-link" data-author-id="45139348" href="https://independent.academia.edu/QingjiongZhang"><img alt="Profile image of Qingjiong Zhang" class="ds-work-card--author-avatar" src="//a.academia-assets.com/images/s65_no_pic.png" />Qingjiong Zhang</a></div><div class="ds-work-card--detail"><p class="ds-work-card--detail ds2-5-body-sm">Genes</p><div class="ds-work-card--work-metadata"><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">visibility</span><p class="ds2-5-body-sm" id="work-metadata-view-count">…</p></div><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">description</span><p class="ds2-5-body-sm">12 pages</p></div><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">link</span><p class="ds2-5-body-sm">1 file</p></div></div><script>(async () => { const workId = 126098723; 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if (!viewCountBody) { throw new Error('Failed to find work views element'); } viewCountBody.textContent = `${commaizedViewCount} views`; } catch (error) { // Remove the whole views element if there was some issue parsing. document.getElementById('work-metadata-view-count')?.parentNode?.remove(); throw new Error(`Failed to parse view count: ${viewCount}`, error); } }; // If the DOM is still loading, wait for it to be ready before updating the view count. if (document.readyState === "loading") { document.addEventListener('DOMContentLoaded', () => { updateViewCount(viewCount); }); // Otherwise, just update it immediately. } else { updateViewCount(viewCount); } })();</script></div><p class="ds-work-card--work-abstract ds-work-card--detail ds2-5-body-md">Variants in FDXR reportedly cause autosomal recessive auditory neuropathy and optic atrophy, expanding to retinal dystrophy. This study aimed to further clarify associated phenotypes. FDXR variants were selected from our in-house whole-exome sequencing dataset of 6397 families with different eye conditions. The clinical data of the identified patients were summarized. Biallelic pathogenic or likely pathogenic FDXR variants were identified in 11 unrelated patients, including 14 missense variants of which 10 were novel. Fundus observation showed complete optic disc pallor, silver wiring or severe attenuation of retinal vessels, and varying degrees of generalized retinal degeneration. Before the detection of FDXR variants, four patients were clinically diagnosed as congenital amaurosis due to the presence of nystagmus a few months after birth, while seven were diagnosed as early-onset severe retinal dystrophy due to the presence of nyctalopia and/or poor vision in early childhood. Bial...</p><div class="ds-work-card--button-container"><button class="ds2-5-button js-swp-download-button" data-signup-modal="{"location":"continue-reading-button--work-card","attachmentId":120028296,"attachmentType":"pdf","workUrl":"https://www.academia.edu/126098723/FDXR_Associated_Oculopathy_Congenital_Amaurosis_and_Early_Onset_Severe_Retinal_Dystrophy_as_Common_Presenting_Features_in_a_Chinese_Population"}">See full PDF</button><button class="ds2-5-button ds2-5-button--secondary js-swp-download-button" data-signup-modal="{"location":"download-pdf-button--work-card","attachmentId":120028296,"attachmentType":"pdf","workUrl":"https://www.academia.edu/126098723/FDXR_Associated_Oculopathy_Congenital_Amaurosis_and_Early_Onset_Severe_Retinal_Dystrophy_as_Common_Presenting_Features_in_a_Chinese_Population"}"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span>Download PDF</button></div><div class="ds-signup-banner-trigger-container"><div class="ds-signup-banner-trigger ds-signup-banner-trigger-premium-marketing"></div></div><div class="ds-signup-banner ds-signup-banner-premium-marketing"><div id="ds-signup-banner-close-button"><button class="ds2-5-button ds2-5-button--secondary ds2-5-button--inverse"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">close</span></button></div><div class="premium-banner-content"><div class="left"><img src="//a.academia-assets.com/images/academia-logo-capital-white.svg" /><span>Get access to the world's latest research</span></div><div class="right"><div class="card free"><div class="header">Free</div><div class="feature-list"><div class="feature"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">check</span><span>Download one paper at a time</span></div><div class="feature"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">check</span><span>Save papers to bookmarks</span></div><div class="feature"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">check</span><span>Basic search</span></div></div><button class="ds2-5-button ds2-5-button--secondary ds2-5-button--small ds2-5-button--inverse ds2-5-button--full-width js-swp-download-button" data-signup-modal="{"location":"premium-banner-desktop-free"}">Sign up for free</button></div><div class="card premium"><div class="pill">Recommended</div><div class="header premium">Premium</div><div class="feature-list"><div class="feature"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">check</span><span>Get highly curated PDF packages</span></div><div class="feature"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">check</span><span>Track your impact with Mentions</span></div><div class="feature"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">check</span><span>Access advanced search filters</span></div><div class="feature"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">check</span><span>Support Academia’s mission</span></div><div class="feature"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">check</span><span>Create your personal website</span></div></div><button class="ds2-5-button ds2-5-button--small ds2-5-button--inverse ds2-5-button--full-width js-swp-download-button" data-signup-modal="{"location":"premium-banner-desktop-upgrade","submitText":"Try Premium for $1"}">Try Premium for $1</button></div></div></div></div><script>(() => { // Set up signup banner show/hide behavior: // 1. 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Here, we identified seven unpublished patients with FDXR deficiency belonging to six independent families. These patients show a broad clinical spectrum ranging from Leigh syndrome with early demise and severe infantile-onset encephalopathy, to milder movement disorders. In total nine individual pathogenic variants, of which seven were novel, were identified in FDXR using whole exome sequencing in suspected mitochondrial disease patients. Over 80% of these variants are missense, a challenging variant class in which to determine pathogenic consequence, especially in the setting of nonspecific phenotypes and in the absence of a reliable biomarker, necessitating functional validation. Here we implement an Arh1-null yeast model to confirm the pathogenicity of variants of uncertain significance in FDXR, bypassing the requirement for patient-derived material.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance","attachmentId":113158097,"attachmentType":"pdf","work_url":"https://www.academia.edu/117251790/Expanding_the_clinical_and_genetic_spectrum_of_FDXR_deficiency_by_functional_validation_of_variants_of_uncertain_significance","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/117251790/Expanding_the_clinical_and_genetic_spectrum_of_FDXR_deficiency_by_functional_validation_of_variants_of_uncertain_significance"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="1" data-entity-id="123799993" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/123799993/Scaling_New_Heights_in_the_Genetic_Diagnosis_of_Inherited_Retinal_Dystrophies">Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="309376345" href="https://independent.academia.edu/REBECAVALEROGILS">REBECA VALERO GILS</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Retinal Degenerative Diseases, 2019</p><p class="ds-related-work--abstract ds2-5-body-sm">During the last 20 years, our group has focused on identifying the genes and mutations causative of inherited retinal dystrophies (IRDs). By applying massive sequencing approaches (NGS) in more than 500 familial and sporadic cases, we attained high diagnostic efficiency (85%) with a custom target gene panel and over 75% using whole exome sequencing (WES). Close to 40% of pathogenic alleles are novel mutations, which demand specific in silico tests and in vitro assays. Notably, missense variants are by far the most common type of mutation identified (around 40%), with small in-frame indels being less frequent (2%). To fill the gap of unsolved cases, when no candidate gene or only a single pathogenic allele has been identified, additional scientific and technical issues remain to be addressed. Reliable detection of genomic rearrangements and copy number variants (partial or complete), deep intronic mutations, variants that cause aberrant splicing events in retina-specific transcripts, functional assessment of hypomorphic missense alleles, mutations in regulatory sequences, the contribution of modifier genes to the IRD phenotype, and detection of low heteroplasmy mtDNA mutations are among the new challenges to be met.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies","attachmentId":118148667,"attachmentType":"pdf","work_url":"https://www.academia.edu/123799993/Scaling_New_Heights_in_the_Genetic_Diagnosis_of_Inherited_Retinal_Dystrophies","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/123799993/Scaling_New_Heights_in_the_Genetic_Diagnosis_of_Inherited_Retinal_Dystrophies"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="2" data-entity-id="16520697" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/16520697/Identity_by_descent_guided_mutation_analysis_and_exome_sequencing_in_consanguineous_families_reveals_unusual_clinical_and_molecular_findings_in_retinal_dystrophy">Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="35769300" href="https://independent.academia.edu/Fran%C3%A7oiseMeire">Françoise Meire</a><span>, </span><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="35887671" href="https://independent.academia.edu/FraukeCoppieters">Frauke Coppieters</a><span>, </span><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="35939079" href="https://independent.academia.edu/NouhaAbdelmoula">Nouha Abdelmoula</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Genetics in Medicine, 2014</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy","attachmentId":42449377,"attachmentType":"pdf","work_url":"https://www.academia.edu/16520697/Identity_by_descent_guided_mutation_analysis_and_exome_sequencing_in_consanguineous_families_reveals_unusual_clinical_and_molecular_findings_in_retinal_dystrophy","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/16520697/Identity_by_descent_guided_mutation_analysis_and_exome_sequencing_in_consanguineous_families_reveals_unusual_clinical_and_molecular_findings_in_retinal_dystrophy"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="3" data-entity-id="86465846" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/86465846/A_rare_de_novo_nonsense_mutation_in_OTX2_causes_early_onset_retinal_dystrophy_and_pituitary_dysfunction">A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="64052658" href="https://ucl.academia.edu/RHenderson">Robert Henderson</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Molecular vision, 2009</p><p class="ds-related-work--abstract ds2-5-body-sm">To describe the clinical findings of a patient with an early onset retinal dystrophy and a novel mutation in OTX2, and to compare these findings with previously reported cases. Using direct sequencing, we screened 142 patients, who had either Leber congenital amaurosis (LCA) or early onset retinal dystrophy (EORD), for mutations in OTX2. All patients received a detailed ophthalmic examination including electroretinography and retinal imaging. Only one mutation in OTX2 was identified. A novel heterozygous p.S138X stop mutation was identified in a seven-year-old male who had an infantile onset retinal dystrophy. The mutation was not present in either parent or in 181 blood donor samples. There was a history of failure to thrive in infancy, poor feeding, and growth hormone deficiency. Poor vision and nyctalopia was present from the first year. Funduscopy revealed a hyperpigmented peripapillary ring with a fine granular pigmentation of the RPE throughout the fundus. The scotopic bright ...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction","attachmentId":90912576,"attachmentType":"pdf","work_url":"https://www.academia.edu/86465846/A_rare_de_novo_nonsense_mutation_in_OTX2_causes_early_onset_retinal_dystrophy_and_pituitary_dysfunction","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/86465846/A_rare_de_novo_nonsense_mutation_in_OTX2_causes_early_onset_retinal_dystrophy_and_pituitary_dysfunction"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="4" data-entity-id="13863012" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/13863012/Exome_Sequencing_Reveals_Novel_and_Recurrent_Mutations_with_Clinical_Significance_in_Inherited_Retinal_Dystrophies">Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="32951475" href="https://independent.academia.edu/SaludBorrego">Salud Borrego</a></div><p class="ds-related-work--metadata ds2-5-body-xs">PLoS ONE, 2014</p><p class="ds-related-work--abstract ds2-5-body-sm">This study aimed to identify the underlying molecular genetic cause in four Spanish families clinically diagnosed of Retinitis Pigmentosa (RP), comprising one autosomal dominant RP (adRP), two autosomal recessive RP (arRP) and one with two possible modes of inheritance: arRP or X-Linked RP (XLRP). We performed whole exome sequencing (WES) using NimbleGen SeqCap EZ Exome V3 sample preparation kit and SOLID 5500xl platform. All variants passing filter criteria were validated by Sanger sequencing to confirm familial segregation and the absence in local control population. This strategy allowed the detection of: (i) one novel heterozygous splice-site deletion in RHO, (ii)</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies","attachmentId":44866683,"attachmentType":"pdf","work_url":"https://www.academia.edu/13863012/Exome_Sequencing_Reveals_Novel_and_Recurrent_Mutations_with_Clinical_Significance_in_Inherited_Retinal_Dystrophies","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/13863012/Exome_Sequencing_Reveals_Novel_and_Recurrent_Mutations_with_Clinical_Significance_in_Inherited_Retinal_Dystrophies"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="5" data-entity-id="68906349" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/68906349/Evaluation_of_autosomal_dominant_retinal_dystrophy_genes_in_an_unaffected_cohort_suggests_rare_or_private_missense_variants_may_often_be_benign">Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="33178851" href="https://ucla.academia.edu/MichaelGorin">Michael Gorin</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Molecular vision</p><p class="ds-related-work--abstract ds2-5-body-sm">Background: Many genes have been reported as harboring autosomal dominant mutations causing retinal dystrophy. As newly available gene panel sequencing and whole exome sequencing will open these genes up to greater scrutiny, we assess the rate of rare coding variation in these genes among unaffected individuals to provide context for variants that will be discovered when clinical subjects are sequenced. Methods: Publicly available data from the Exome Variant Project were analyzed, focusing on 36 genes known to harbor mutations causing autosomal dominant macular dystrophy. Results: Rates of rare (minor allele frequency ≤0.1%) and private missense variants within autosomal dominant retinal dystrophy genes were found to occur at a high frequency in unaffected individuals, while nonsense variants were not. Conclusions: We conclude that rare missense variations in most of these genes identified in individuals with retinal dystrophy cannot be confidently classified as disease-causing in the absence of additional information such as linkage or functional validation.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign","attachmentId":79211851,"attachmentType":"pdf","work_url":"https://www.academia.edu/68906349/Evaluation_of_autosomal_dominant_retinal_dystrophy_genes_in_an_unaffected_cohort_suggests_rare_or_private_missense_variants_may_often_be_benign","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/68906349/Evaluation_of_autosomal_dominant_retinal_dystrophy_genes_in_an_unaffected_cohort_suggests_rare_or_private_missense_variants_may_often_be_benign"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="6" data-entity-id="63339472" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/63339472/Molecular_genetic_basis_of_non_syndromic_retinal_dystrophies">Molecular genetic basis of non-syndromic retinal dystrophies</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="140202818" href="https://independent.academia.edu/IsabelCuzcano">Isabel Cuzcano</a></div><p class="ds-related-work--metadata ds2-5-body-xs">2013</p><p class="ds-related-work--abstract ds2-5-body-sm">The aim of this thesis was to identify and characterize genetic defects underlying retinal ciliopathies. Initially, genetic defects were detected by homozygosity mapping using high-density genome-wide single nucleotide polymorphism (SNP) arrays in combination with a positional candidate gene approach. After the advent of next generation sequencing technology, the approach shifted to a combination of homozygosity mapping with targeted next generation sequencing, which, finally, was replaced by exome sequencing. Chapter 2 summarizes all genes, mutations and modifier alleles associated with non-syndromic retinal ciliopathies, the progress that was made in dissecting the associated retinal disease mechanisms, and an evaluation of gene augmentation approaches to antagonize retinal degeneration. Chapter 3 describes mutation analysis of IQCB1 in 226 individuals affected by Leber congenital amaurosis (LCA). We identified frameshift and nonsense mutations in 12 individuals diagnosed with LCA...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Molecular genetic basis of non-syndromic retinal dystrophies","attachmentId":75802434,"attachmentType":"pdf","work_url":"https://www.academia.edu/63339472/Molecular_genetic_basis_of_non_syndromic_retinal_dystrophies","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/63339472/Molecular_genetic_basis_of_non_syndromic_retinal_dystrophies"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="7" data-entity-id="86191949" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/86191949/Genetic_analysis_of_ten_pedigrees_with_inherited_retinal_degeneration_IRD_by_exome_sequencing_and_phenotype_genotype_association">Genetic analysis of ten pedigrees with inherited retinal degeneration (IRD) by exome sequencing and phenotype-genotype association</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="60141784" href="https://independent.academia.edu/IgorKozak3">Igor Kozak</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Physiological genomics, 2017</p><p class="ds-related-work--abstract ds2-5-body-sm">To identify causative mutations and characterize the phenotype associated with the genotype in ten unrelated families with autosomal recessive retinal degeneration. Ophthalmic evaluation and DNA isolation was carried out in 10 pedigrees with IRD. Exomes of probands from 8 pedigrees were captured using Nimblegen V2/V3 or Agilent V5+UTR kits, and sequencing was performed on Illumina HiSeq. The DHDDS gene was screened for mutations in the remaining two pedigrees with Ashkenazi Jews ancestry. Exome variants were filtered to detect candidate causal variants using exomeSuite software. Segregation and ethnicity-matched control sample analysis were performed by dideoxy sequencing. Retinal histology of a patient with DHDDS mutation was studied by microscopy. Genetic analysis identified six known mutations in ABCA4 (p.Gly1961Glu, p.Ala1773Val, c.5461-10T&gt;C), RPE65 (p.Tyr249Cys, p.Gly484Asp), PDE6B (p.Lys706Ter) and DHDDS (p.Lys42Glu) and ten novel potentially pathogenic variants in CERKL (...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Genetic analysis of ten pedigrees with inherited retinal degeneration (IRD) by exome sequencing and phenotype-genotype association","attachmentId":90701467,"attachmentType":"pdf","work_url":"https://www.academia.edu/86191949/Genetic_analysis_of_ten_pedigrees_with_inherited_retinal_degeneration_IRD_by_exome_sequencing_and_phenotype_genotype_association","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/86191949/Genetic_analysis_of_ten_pedigrees_with_inherited_retinal_degeneration_IRD_by_exome_sequencing_and_phenotype_genotype_association"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="8" data-entity-id="110255615" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/110255615/Application_of_Targeted_Next_Generation_Sequencing_in_Patients_with_Autosomal_Recessive_Inherited_Retinal_Dystrophies_Improvement_of_Genetic_and_Clinical_Diagnosis">Application of Targeted Next-Generation Sequencing in Patients with Autosomal Recessive Inherited Retinal Dystrophies: Improvement of Genetic and Clinical Diagnosis</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="36921695" href="https://independent.academia.edu/ErikaT%C3%B3th3">Erika Tóth</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Translational Medicine, 2014</p><p class="ds-related-work--abstract ds2-5-body-sm">Background: Inherited retinal dystrophies (IRDs) are a group of retinal diseases characterized by irreversible degeneration of photoreceptors. Many IRDs present significant genetic and clinical heterogeneities, which have challenged the genetic and clinical diagnosis for IRDs. This study aims to determine the genetic lesions with phenotypic correlations in patients with diverse autosomal recessive IRDs using next-generation sequencing (NGS). Methods: A cohort of 20 Chinese families affected with autosomal recessive IRDs were recruited with their detailed family history and clinical information collected. To call disease causative mutations in the patients, targeted sequence capture of IRDs-relevant genes using two in-house designed microarrays followed by NGS was applied. Bioinformatics annotation, intrafamilial cosegregation analyses, in silico prediction, and functional analyses were subsequently conducted for the variants identified by NGS. Genotype-phenotype correlations were also analyzed in the families to assist clinical diagnosis. Results: With this approach, homozygous and biallelic variants were identified in 11 out of the 20 families (55%) as very likely disease causing mutations including a total of 17 alleles, of which 11 are novel. The 17 alleles identified here include 5 missense mutations, 5 nonsense mutations, 3 frameshift mutations, and 4 splice site mutations. Noteworthy, we found biallelic RP1 mutations in a patient with cone-rod dystrophy (CRD), which was not previously correlated with RP1 mutations. Moreover, identification of biallelic mutations in FLVCR1 in a patient with complex systemic phenotypes has finalized the clinical diagnosis as posterior column ataxia with RP (PCARP). Conclusions: Targeted NGS approach could effectively detect mutations in patients with diverse autosomal recessive IRDs, significantly improve clinical diagnosis and gain better insights of genotype-phenotype correlations.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Application of Targeted Next-Generation Sequencing in Patients with Autosomal Recessive Inherited Retinal Dystrophies: Improvement of Genetic and Clinical Diagnosis","attachmentId":108128881,"attachmentType":"pdf","work_url":"https://www.academia.edu/110255615/Application_of_Targeted_Next_Generation_Sequencing_in_Patients_with_Autosomal_Recessive_Inherited_Retinal_Dystrophies_Improvement_of_Genetic_and_Clinical_Diagnosis","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/110255615/Application_of_Targeted_Next_Generation_Sequencing_in_Patients_with_Autosomal_Recessive_Inherited_Retinal_Dystrophies_Improvement_of_Genetic_and_Clinical_Diagnosis"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="9" data-entity-id="81737690" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/81737690/Mutations_in_Known_Disease_Genes_Account_for_the_Majority_of_Autosomal_Recessive_Retinal_Dystrophies">Mutations in Known Disease Genes Account for the Majority of Autosomal Recessive Retinal Dystrophies</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="50313869" href="https://independent.academia.edu/AmalAlhemidan">Amal Al-hemidan</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Clinical genetics, 2018</p><p class="ds-related-work--abstract ds2-5-body-sm">Retinal dystrophies (RD) are hereditary blinding eye conditions that are highly variable in their clinical presentation. The remarkable genetic heterogeneity that characterizes RD was a major challenge in establishing the molecular diagnosis in these patients until the recent advent of next-generation sequencing. It remains unclear, however, what percentage of autosomal recessive RD remain undiagnosed when all established RD genes are sequenced. We enrolled 75 families in which RD segregates in an apparently autosomal recessive manner. We show that the yield of a multi-gene panel that contains known RD genes is 67.5%. The higher yield (82.3%) when whole-exome sequencing was implemented instead was often due to hits in genes that were not included in the original design of the panel. We also demonstrate the value of homozygosity mapping even during the era of exome sequencing in uncovering cryptic mutations. In total, we describe 45 unique likely deleterious variants (of which 18 are...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Mutations in Known Disease Genes Account for the Majority of Autosomal Recessive Retinal Dystrophies","attachmentId":87678821,"attachmentType":"pdf","work_url":"https://www.academia.edu/81737690/Mutations_in_Known_Disease_Genes_Account_for_the_Majority_of_Autosomal_Recessive_Retinal_Dystrophies","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/81737690/Mutations_in_Known_Disease_Genes_Account_for_the_Majority_of_Autosomal_Recessive_Retinal_Dystrophies"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div></div></div><div class="ds-sticky-ctas--wrapper js-loswp-sticky-ctas hidden"><div class="ds-sticky-ctas--grid-container"><div class="ds-sticky-ctas--container"><button class="ds2-5-button js-swp-download-button" data-signup-modal="{"location":"continue-reading-button--sticky-ctas","attachmentId":120028296,"attachmentType":"pdf","workUrl":null}">See full PDF</button><button class="ds2-5-button ds2-5-button--secondary js-swp-download-button" data-signup-modal="{"location":"download-pdf-button--sticky-ctas","attachmentId":120028296,"attachmentType":"pdf","workUrl":null}"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span>Download PDF</button></div></div></div><div class="ds-below-fold--grid-container"><div class="ds-work--container js-loswp-embedded-document"><div class="attachment_preview" data-attachment="Attachment_120028296" style="display: none"><div class="js-scribd-document-container"><div class="scribd--document-loading js-scribd-document-loader" style="display: block;"><img alt="Loading..." src="//a.academia-assets.com/images/loaders/paper-load.gif" /><p>Loading Preview</p></div></div><div style="text-align: center;"><div class="scribd--no-preview-alert js-preview-unavailable"><p>Sorry, preview is currently unavailable. You can download the paper by clicking the button above.</p></div></div></div></div><div class="ds-sidebar--container js-work-sidebar"><div class="ds-related-content--container"><h2 class="ds-related-content--heading">Related papers</h2><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="0" data-entity-id="69873206" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/69873206/Whole_Exome_Sequencing_Reveals_Mutations_in_Known_Retinal_Disease_Genes_in_33_out_of_68_Israeli_Families_with_Inherited_Retinopathies">Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="33040438" href="https://hadassah-med.academia.edu/AbrahamZlotogorski">Abraham Zlotogorski</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Scientific Reports, 2015</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies","attachmentId":79803963,"attachmentType":"pdf","work_url":"https://www.academia.edu/69873206/Whole_Exome_Sequencing_Reveals_Mutations_in_Known_Retinal_Disease_Genes_in_33_out_of_68_Israeli_Families_with_Inherited_Retinopathies","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/69873206/Whole_Exome_Sequencing_Reveals_Mutations_in_Known_Retinal_Disease_Genes_in_33_out_of_68_Israeli_Families_with_Inherited_Retinopathies"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="1" data-entity-id="78726201" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/78726201/Molecular_findings_from_537_individuals_with_inherited_retinal_disease">Molecular findings from 537 individuals with inherited retinal disease</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="193069826" href="https://independent.academia.edu/SanjeevBhaskar5">Sanjeev Bhaskar</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Journal of medical genetics, 2016</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Molecular findings from 537 individuals with inherited retinal disease","attachmentId":85671937,"attachmentType":"pdf","work_url":"https://www.academia.edu/78726201/Molecular_findings_from_537_individuals_with_inherited_retinal_disease","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/78726201/Molecular_findings_from_537_individuals_with_inherited_retinal_disease"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="2" data-entity-id="49591796" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/49591796/A_novel_complex_neurological_phenotype_due_to_a_homozygous_mutation_in_FDX2">A novel complex neurological phenotype due to a homozygous mutation in FDX2</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="95195338" href="https://independent.academia.edu/BrunoDellaRipaRodriguesAssis">Bruno Della Ripa Rodrigues Assis</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Brain : a journal of neurology, 2018</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"A novel complex neurological phenotype due to a homozygous mutation in FDX2","attachmentId":67911012,"attachmentType":"pdf","work_url":"https://www.academia.edu/49591796/A_novel_complex_neurological_phenotype_due_to_a_homozygous_mutation_in_FDX2","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/49591796/A_novel_complex_neurological_phenotype_due_to_a_homozygous_mutation_in_FDX2"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div 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