<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0034-8376</journal-id>
<journal-title><![CDATA[Revista de investigación clínica]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. invest. clín.]]></abbrev-journal-title>
<issn>0034-8376</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0034-83762022000400219</article-id>
<article-id pub-id-type="doi">10.24875/ric.22000107</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Effectiveness of Whole-Exome Sequencing for the Identification of Causal Mutations in Patients with Suspected Inherited Ocular Diseases]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ordoñez-Labastida]]></surname>
<given-names><![CDATA[Vianey]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Montes-Almanza]]></surname>
<given-names><![CDATA[Luis]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García-Martínez]]></surname>
<given-names><![CDATA[Froylan]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Zenteno]]></surname>
<given-names><![CDATA[Juan C.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Nacional Autónoma de México Faculty of Medicine ]]></institution>
<addr-line><![CDATA[Mexico City ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Autónoma del Estado de Morelos Faculty of Medicine ]]></institution>
<addr-line><![CDATA[Leñeros ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Nacional Autónoma de México Faculty of Medicine ]]></institution>
<addr-line><![CDATA[Mexico City ]]></addr-line>
<country>Mexico</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2022</year>
</pub-date>
<volume>74</volume>
<numero>4</numero>
<fpage>219</fpage>
<lpage>226</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0034-83762022000400219&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0034-83762022000400219&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0034-83762022000400219&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Background: Genetic eye disorders, affecting around one in 1000 people, encompass a diverse group of diseases causing severe visual deficiency. The recent adoption of next-generation sequencing techniques, including whole-exome sequencing (WES), in medicine has greatly enhanced diagnostic rates of genetically heterogeneous diseases.  Objectives: The objectives of the study were to assess the diagnostic yield of WES in a cohort of Mexican individuals with suspected genetic eye disorders and to evaluate the improvement of diagnostic rates by reanalysis of WES data in patients without an initial molecular diagnosis.  Methods: A total of 90 probands with ocular anomalies of suspected genetic origin were ascertained. Patients underwent WES in leukocytic DNA. Bioinformatics analysis and Sanger sequencing were used to confirm the disease-causing variants. Only variants identified as pathogenic or likely pathogenic were considered as causal.  Results: Initial analysis revealed causal mutations in 46 cases (51%). Reanalysis of WES data 12 months after first analysis resulted in the identification of additional causal variants in 6 patients (7%), increasing the molecular diagnostic yield to 58%. The highest diagnostic rates by disease categories corresponded to hereditary retinal dystrophies (77%) and to anomalies of the anterior segment of the eye (47%).  Conclusion: Our study demonstrates that WES is an effective approach for genetic diagnosis of genetic ocular diseases and that reanalysis of WES data can improve the diagnostic yield.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Whole-exome sequencing]]></kwd>
<kwd lng="en"><![CDATA[Next-generation sequencing]]></kwd>
<kwd lng="en"><![CDATA[Inherited ocular disorders]]></kwd>
<kwd lng="en"><![CDATA[Ophthalmogenetics]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Matthijs]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Souche]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Alders]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Corveleyn]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Eck]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Feenstra]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Guidelines for diagnostic next-generation sequencing]]></article-title>
<source><![CDATA[Eur J Hum Genet]]></source>
<year>2016</year>
<volume>24</volume>
<page-range>2-5</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Di Resta]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Galbiati]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Carrera]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Ferrari]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities]]></article-title>
<source><![CDATA[EJIFCC]]></source>
<year>2018</year>
<volume>29</volume>
<page-range>4-14</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hartman]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Beckman]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Silverstein]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Yohe]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Schomaker]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Henzler]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Next generation sequencing for clinical diagnostics: five-year experience of an academic laboratory]]></article-title>
<source><![CDATA[Mol Genet Metab Rep]]></source>
<year>2019</year>
<volume>19</volume>
<page-range>100464</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Botstein]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Risch]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease]]></article-title>
<source><![CDATA[Nat Genet]]></source>
<year>2003</year>
<volume>33</volume>
<numero>Suppl</numero>
<issue>Suppl</issue>
<page-range>228-37</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Tetreault]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Bareke]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Nadaf]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Alirezaie]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Majewski]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities]]></article-title>
<source><![CDATA[Expert Rev Mol Diagn]]></source>
<year>2015</year>
<volume>15</volume>
<page-range>749-60</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Liu]]></surname>
<given-names><![CDATA[HY]]></given-names>
</name>
<name>
<surname><![CDATA[Zhou]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Zheng]]></surname>
<given-names><![CDATA[MY]]></given-names>
</name>
<name>
<surname><![CDATA[Huang]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Wan]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Zhu]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases]]></article-title>
<source><![CDATA[Sci Rep]]></source>
<year>2019</year>
<volume>9</volume>
<page-range>19365</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Chung]]></surname>
<given-names><![CDATA[CC]]></given-names>
</name>
<name>
<surname><![CDATA[Leung]]></surname>
<given-names><![CDATA[GK]]></given-names>
</name>
<name>
<surname><![CDATA[Mak]]></surname>
<given-names><![CDATA[CC]]></given-names>
</name>
<name>
<surname><![CDATA[Fung]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Pei]]></surname>
<given-names><![CDATA[SL]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs]]></article-title>
<source><![CDATA[Lancet Reg Health West Pac]]></source>
<year>2020</year>
<volume>24</volume>
<page-range>100001</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Yang]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Muzny]]></surname>
<given-names><![CDATA[DM]]></given-names>
</name>
<name>
<surname><![CDATA[Reid]]></surname>
<given-names><![CDATA[JG]]></given-names>
</name>
<name>
<surname><![CDATA[Bainbridge]]></surname>
<given-names><![CDATA[MN]]></given-names>
</name>
<name>
<surname><![CDATA[Willis]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Ward]]></surname>
<given-names><![CDATA[PA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical whole-exome sequencing for the diagnosis of Mendelian disorders]]></article-title>
<source><![CDATA[N Engl J Med]]></source>
<year>2013</year>
<volume>369</volume>
<page-range>1502-11</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Meng]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Pammi]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Saronwala]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Magoulas]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Ghazi]]></surname>
<given-names><![CDATA[AR]]></given-names>
</name>
<name>
<surname><![CDATA[Vetrini]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management]]></article-title>
<source><![CDATA[JAMA Pediatr]]></source>
<year>2017</year>
<volume>171</volume>
<page-range>e173438</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lam]]></surname>
<given-names><![CDATA[CW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)]]></article-title>
<source><![CDATA[J Lab Med]]></source>
<year>2021</year>
<volume>45</volume>
<page-range>259-66</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Richards]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Aziz]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Bale]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Bick]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Das]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Gastier-Foster]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology]]></article-title>
<source><![CDATA[Genet Med]]></source>
<year>2015</year>
<volume>17</volume>
<page-range>405-24</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hwang]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Marcotte]]></surname>
<given-names><![CDATA[EM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Systematic comparison of variant calling pipelines using gold standard personal exome variants]]></article-title>
<source><![CDATA[Sci Rep]]></source>
<year>2015</year>
<volume>5</volume>
<page-range>17875</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Seo]]></surname>
<given-names><![CDATA[GH]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Choi]]></surname>
<given-names><![CDATA[IH]]></given-names>
</name>
<name>
<surname><![CDATA[Park]]></surname>
<given-names><![CDATA[JY]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE]]></article-title>
<source><![CDATA[Clin Genet]]></source>
<year>2020</year>
<volume>98</volume>
<page-range>562-70</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Helmy]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Awad]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Mosa]]></surname>
<given-names><![CDATA[KA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Limited resources of genome sequencing in developing countries: challenges and solutions]]></article-title>
<source><![CDATA[Appl Transl Genom]]></source>
<year>2016</year>
<volume>9</volume>
<page-range>15-9</page-range></nlm-citation>
</ref>
<ref id="B15">
<label>15.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Stone]]></surname>
<given-names><![CDATA[EM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetic testing for inherited eye disease]]></article-title>
<source><![CDATA[Arch Ophthalmol]]></source>
<year>2007</year>
<volume>125</volume>
<page-range>205-12</page-range></nlm-citation>
</ref>
<ref id="B16">
<label>16.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Méjécase]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Malka]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Guan]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
<name>
<surname><![CDATA[Slater]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Arno]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Moosajee]]></surname>
<given-names><![CDATA[M.]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Practical guide to genetic screening for inherited eye diseases]]></article-title>
<source><![CDATA[Ther Adv Ophthalmol]]></source>
<year>2020</year>
<volume>12</volume>
</nlm-citation>
</ref>
<ref id="B17">
<label>17.</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Mohan]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Satagopan]]></surname>
<given-names><![CDATA[U]]></given-names>
</name>
<name>
<surname><![CDATA[Nagasamy]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Sundaram]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetics and susceptibility of retinal eye diseases in India]]></article-title>
<person-group person-group-type="editor">
<name>
<surname><![CDATA[Prakash]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Iwata]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
</person-group>
<source><![CDATA[Advances in Vision Research, Volume II, Essentials in Ophthalmology]]></source>
<year>2019</year>
<page-range>147-68</page-range><publisher-loc><![CDATA[Singapore: ]]></publisher-loc>
<publisher-name><![CDATA[Springer]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B18">
<label>18.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Singh]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Tyagi]]></surname>
<given-names><![CDATA[SC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders]]></article-title>
<source><![CDATA[Int J Ophthalmol]]></source>
<year>2018</year>
<volume>11</volume>
<page-range>117-34</page-range></nlm-citation>
</ref>
<ref id="B19">
<label>19.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Consugar]]></surname>
<given-names><![CDATA[MB]]></given-names>
</name>
<name>
<surname><![CDATA[Navarro-Gomez]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Place]]></surname>
<given-names><![CDATA[EM]]></given-names>
</name>
<name>
<surname><![CDATA[Bujakowska]]></surname>
<given-names><![CDATA[KM]]></given-names>
</name>
<name>
<surname><![CDATA[Sousa]]></surname>
<given-names><![CDATA[ME]]></given-names>
</name>
<name>
<surname><![CDATA[Fonseca-Kelly]]></surname>
<given-names><![CDATA[ZD]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing]]></article-title>
<source><![CDATA[Genet Med]]></source>
<year>2015</year>
<volume>17</volume>
<page-range>253-61</page-range></nlm-citation>
</ref>
<ref id="B20">
<label>20.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wiggs]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Progress in diagnostic genetic testing for inherited eye disease]]></article-title>
<source><![CDATA[JAMA Ophthalmol]]></source>
<year>2017</year>
<volume>135</volume>
<page-range>1385-6</page-range></nlm-citation>
</ref>
<ref id="B21">
<label>21.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Sun]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Xiao]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Jia]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Liu]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[An ophthalmic targeted exome sequencing panel as a powerful tool to identify causative mutations in patients suspected of hereditary eye diseases]]></article-title>
<source><![CDATA[Transl Vis Sci Technol]]></source>
<year>2019</year>
<volume>8</volume>
<page-range>21</page-range></nlm-citation>
</ref>
<ref id="B22">
<label>22.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Patel]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Hayward]]></surname>
<given-names><![CDATA[JD]]></given-names>
</name>
<name>
<surname><![CDATA[Tailor]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Nyanhete]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Ahlfors]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Gabriel]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders]]></article-title>
<source><![CDATA[Ophthalmology]]></source>
<year>2019</year>
<volume>126</volume>
<page-range>888-907</page-range></nlm-citation>
</ref>
<ref id="B23">
<label>23.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Sawyer]]></surname>
<given-names><![CDATA[SL]]></given-names>
</name>
<name>
<surname><![CDATA[Hartley]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Dyment]]></surname>
<given-names><![CDATA[DA]]></given-names>
</name>
<name>
<surname><![CDATA[Beaulieu]]></surname>
<given-names><![CDATA[CL]]></given-names>
</name>
<name>
<surname><![CDATA[Schwartzentruber]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Smith]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care]]></article-title>
<source><![CDATA[Clin Genet]]></source>
<year>2016</year>
<volume>89</volume>
<page-range>275-84</page-range></nlm-citation>
</ref>
<ref id="B24">
<label>24.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Haer-Wigman]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[van Zelst-Stams]]></surname>
<given-names><![CDATA[WA]]></given-names>
</name>
<name>
<surname><![CDATA[Pfundt]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[van den Born]]></surname>
<given-names><![CDATA[LI]]></given-names>
</name>
<name>
<surname><![CDATA[Klaver]]></surname>
<given-names><![CDATA[CC]]></given-names>
</name>
<name>
<surname><![CDATA[Verheij]]></surname>
<given-names><![CDATA[JB]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Diagnostic exome sequencing in 266 Dutch patients with visual impairment]]></article-title>
<source><![CDATA[Eur J Hum Genet]]></source>
<year>2017</year>
<volume>25</volume>
<page-range>591-9</page-range></nlm-citation>
</ref>
<ref id="B25">
<label>25.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Prokudin]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Simons]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Grigg]]></surname>
<given-names><![CDATA[JR]]></given-names>
</name>
<name>
<surname><![CDATA[Storen]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Kumar]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Phua]]></surname>
<given-names><![CDATA[ZY]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1]]></article-title>
<source><![CDATA[Eur J Hum Genet]]></source>
<year>2014</year>
<volume>22</volume>
<page-range>907-15</page-range></nlm-citation>
</ref>
<ref id="B26">
<label>26.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Haug]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Koller]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Maggi]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Lang]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Feil]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Wlodarczyk]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Whole exome sequencing in coloboma/microphthalmia: identification of novel and recurrent variants in seven genes]]></article-title>
<source><![CDATA[Genes (Basel)]]></source>
<year>2021</year>
<volume>12</volume>
<page-range>65</page-range></nlm-citation>
</ref>
<ref id="B27">
<label>27.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Gupta]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Chatterjee]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Mukherjee]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Mutsuddi]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Whole exome sequencing: uncovering causal genetic variants for ocular diseases]]></article-title>
<source><![CDATA[Exp Eye Res]]></source>
<year>2017</year>
<volume>164</volume>
<page-range>139-50</page-range></nlm-citation>
</ref>
<ref id="B28">
<label>28.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Berg]]></surname>
<given-names><![CDATA[JS]]></given-names>
</name>
<name>
<surname><![CDATA[Milko]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Crooks]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Lu]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Bizon]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[High diagnostic yield of whole exome sequencing in participants with retinal dystrophies in a clinical ophthalmology setting]]></article-title>
<source><![CDATA[Am J Ophthalmol]]></source>
<year>2015</year>
<volume>160</volume>
<page-range>354-63.e9</page-range></nlm-citation>
</ref>
<ref id="B29">
<label>29.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bryant]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Lozynska]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Maguire]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
<name>
<surname><![CDATA[Aleman]]></surname>
<given-names><![CDATA[TS]]></given-names>
</name>
<name>
<surname><![CDATA[Bennett]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration]]></article-title>
<source><![CDATA[Clin Ophthalmol]]></source>
<year>2017</year>
<volume>12</volume>
<page-range>49-63</page-range></nlm-citation>
</ref>
<ref id="B30">
<label>30.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ma]]></surname>
<given-names><![CDATA[DJ]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[HS]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Choi]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Jang]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Cho]]></surname>
<given-names><![CDATA[SH]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration]]></article-title>
<source><![CDATA[BMC Med Genomics]]></source>
<year>2021</year>
<volume>14</volume>
<page-range>74</page-range></nlm-citation>
</ref>
<ref id="B31">
<label>31.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wright]]></surname>
<given-names><![CDATA[CF]]></given-names>
</name>
<name>
<surname><![CDATA[McRae]]></surname>
<given-names><![CDATA[JF]]></given-names>
</name>
<name>
<surname><![CDATA[Clayton]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Gallone]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Aitken]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[FitzGerald]]></surname>
<given-names><![CDATA[TW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders]]></article-title>
<source><![CDATA[Genet Med]]></source>
<year>2018</year>
<volume>20</volume>
<page-range>1216-23</page-range></nlm-citation>
</ref>
<ref id="B32">
<label>32.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Liu]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Meng]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Normand]]></surname>
<given-names><![CDATA[EA]]></given-names>
</name>
<name>
<surname><![CDATA[Xia]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Song]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Ghazi]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Reanalysis of clinical exome sequencing data]]></article-title>
<source><![CDATA[N Engl J Med]]></source>
<year>2019</year>
<volume>380</volume>
<page-range>2478-80</page-range></nlm-citation>
</ref>
<ref id="B33">
<label>33.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wenger]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
<name>
<surname><![CDATA[Guturu]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Bernstein]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
<name>
<surname><![CDATA[Bejerano]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers]]></article-title>
<source><![CDATA[Genet Med]]></source>
<year>2017</year>
<volume>19</volume>
<page-range>209-14</page-range></nlm-citation>
</ref>
<ref id="B34">
<label>34.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Burdick]]></surname>
<given-names><![CDATA[KJ]]></given-names>
</name>
<name>
<surname><![CDATA[Cogan]]></surname>
<given-names><![CDATA[JD]]></given-names>
</name>
<name>
<surname><![CDATA[Rives]]></surname>
<given-names><![CDATA[LC]]></given-names>
</name>
<name>
<surname><![CDATA[Robertson]]></surname>
<given-names><![CDATA[AK]]></given-names>
</name>
<name>
<surname><![CDATA[Koziura]]></surname>
<given-names><![CDATA[ME]]></given-names>
</name>
<name>
<surname><![CDATA[Brokamp]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Limitations of exome sequencing in detecting rare and undiagnosed diseases]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2020</year>
<volume>182</volume>
<page-range>1400-6</page-range></nlm-citation>
</ref>
<ref id="B35">
<label>35.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Men]]></surname>
<given-names><![CDATA[CJ]]></given-names>
</name>
<name>
<surname><![CDATA[Bujakowska]]></surname>
<given-names><![CDATA[KM]]></given-names>
</name>
<name>
<surname><![CDATA[Comander]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Place]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Bedoukian]]></surname>
<given-names><![CDATA[EC]]></given-names>
</name>
<name>
<surname><![CDATA[Zhu]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA]]></article-title>
<source><![CDATA[Mol Vis]]></source>
<year>2017</year>
<volume>23</volume>
<page-range>695-706</page-range></nlm-citation>
</ref>
<ref id="B36">
<label>36.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hauw]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Fargeot]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Adams]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Attarian]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Cauquil]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Chanson]]></surname>
<given-names><![CDATA[JB]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: an international multicentric retrospective study]]></article-title>
<source><![CDATA[Eur J Neurol]]></source>
<year>2021</year>
<volume>28</volume>
<page-range>2846-54</page-range></nlm-citation>
</ref>
<ref id="B37">
<label>37.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Srivastava]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Love-Nichols]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
<name>
<surname><![CDATA[Dies]]></surname>
<given-names><![CDATA[KA]]></given-names>
</name>
<name>
<surname><![CDATA[Ledbetter]]></surname>
<given-names><![CDATA[DH]]></given-names>
</name>
<name>
<surname><![CDATA[Martin]]></surname>
<given-names><![CDATA[CL]]></given-names>
</name>
<name>
<surname><![CDATA[Chung]]></surname>
<given-names><![CDATA[WK]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Correction: meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders]]></article-title>
<source><![CDATA[Genet Med]]></source>
<year>2020</year>
<volume>22</volume>
<page-range>1731-2</page-range></nlm-citation>
</ref>
<ref id="B38">
<label>38.</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Moon]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Park]]></surname>
<given-names><![CDATA[HW]]></given-names>
</name>
<name>
<surname><![CDATA[Surl]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Won]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[ST]]></given-names>
</name>
<name>
<surname><![CDATA[Shin]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Precision medicine through next-generation sequencing in inherited eye diseases in a Korean cohort]]></article-title>
<source><![CDATA[Genes (Basel)]]></source>
<year>2021</year>
<volume>13</volume>
<page-range>27</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
