Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.

Saved in:
Bibliographic Details
Title: Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
Authors: Scocchia A; 1Illumina, Inc, San Diego, CA 92122 USA., Wigby KM; 2Rady's Children's Hospital, San Diego, CA 92123 USA.; 3University of California, San Diego, CA 92093 USA., Masser-Frye D; 2Rady's Children's Hospital, San Diego, CA 92123 USA., Del Campo M; 2Rady's Children's Hospital, San Diego, CA 92123 USA.; 3University of California, San Diego, CA 92093 USA., Galarreta CI; 2Rady's Children's Hospital, San Diego, CA 92123 USA.; 3University of California, San Diego, CA 92093 USA., Thorpe E; 1Illumina, Inc, San Diego, CA 92122 USA., McEachern J; 1Illumina, Inc, San Diego, CA 92122 USA., Robinson K; 1Illumina, Inc, San Diego, CA 92122 USA., Gross A; 1Illumina, Inc, San Diego, CA 92122 USA., Ajay SS; 1Illumina, Inc, San Diego, CA 92122 USA., Rajan V; 1Illumina, Inc, San Diego, CA 92122 USA., Perry DL; 1Illumina, Inc, San Diego, CA 92122 USA., Belmont JW; 1Illumina, Inc, San Diego, CA 92122 USA., Bentley DR; 1Illumina, Inc, San Diego, CA 92122 USA., Jones MC; 2Rady's Children's Hospital, San Diego, CA 92123 USA.; 3University of California, San Diego, CA 92093 USA., Taft RJ; 1Illumina, Inc, San Diego, CA 92122 USA.
Corporate Authors: ICSL Interpretation and Reporting Team
Source: NPJ genomic medicine [NPJ Genom Med] 2019 Feb 14; Vol. 4, pp. 5. Date of Electronic Publication: 2019 Feb 14 (Print Publication: 2019).
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: eCollection Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 30792901
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Scocchia+A%22">Scocchia A</searchLink>; 1Illumina, Inc, San Diego, CA 92122 USA.<br /><searchLink fieldCode="AU" term="%22Wigby+KM%22">Wigby KM</searchLink>; 2Rady's Children's Hospital, San Diego, CA 92123 USA.; 3University of California, San Diego, CA 92093 USA.<br /><searchLink fieldCode="AU" term="%22Masser-Frye+D%22">Masser-Frye D</searchLink>; 2Rady's Children's Hospital, San Diego, CA 92123 USA.<br /><searchLink fieldCode="AU" term="%22Del+Campo+M%22">Del Campo M</searchLink>; 2Rady's Children's Hospital, San Diego, CA 92123 USA.; 3University of California, San Diego, CA 92093 USA.<br /><searchLink fieldCode="AU" term="%22Galarreta+CI%22">Galarreta CI</searchLink>; 2Rady's Children's Hospital, San Diego, CA 92123 USA.; 3University of California, San Diego, CA 92093 USA.<br /><searchLink fieldCode="AU" term="%22Thorpe+E%22">Thorpe E</searchLink>; 1Illumina, Inc, San Diego, CA 92122 USA.<br /><searchLink fieldCode="AU" term="%22McEachern+J%22">McEachern J</searchLink>; 1Illumina, Inc, San Diego, CA 92122 USA.<br /><searchLink fieldCode="AU" term="%22Robinson+K%22">Robinson K</searchLink>; 1Illumina, Inc, San Diego, CA 92122 USA.<br /><searchLink fieldCode="AU" term="%22Gross+A%22">Gross A</searchLink>; 1Illumina, Inc, San Diego, CA 92122 USA.<br /><searchLink fieldCode="AU" term="%22Ajay+SS%22">Ajay SS</searchLink>; 1Illumina, Inc, San Diego, CA 92122 USA.<br /><searchLink fieldCode="AU" term="%22Rajan+V%22">Rajan V</searchLink>; 1Illumina, Inc, San Diego, CA 92122 USA.<br /><searchLink fieldCode="AU" term="%22Perry+DL%22">Perry DL</searchLink>; 1Illumina, Inc, San Diego, CA 92122 USA.<br /><searchLink fieldCode="AU" term="%22Belmont+JW%22">Belmont JW</searchLink>; 1Illumina, Inc, San Diego, CA 92122 USA.<br /><searchLink fieldCode="AU" term="%22Bentley+DR%22">Bentley DR</searchLink>; 1Illumina, Inc, San Diego, CA 92122 USA.<br /><searchLink fieldCode="AU" term="%22Jones+MC%22">Jones MC</searchLink>; 2Rady's Children's Hospital, San Diego, CA 92123 USA.; 3University of California, San Diego, CA 92093 USA.<br /><searchLink fieldCode="AU" term="%22Taft+RJ%22">Taft RJ</searchLink>; 1Illumina, Inc, San Diego, CA 92122 USA.
– Name: AuthorCorporate
  Label: Corporate Authors
  Group: Au
  Data: <searchLink fieldCode="CA" term="%22ICSL+Interpretation+and+Reporting+Team%22">ICSL Interpretation and Reporting Team</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2019 Feb 14; Vol. 4, pp. 5. <i>Date of Electronic Publication: </i>2019 Feb 14 (<i>Print Publication: </i>2019).
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Nature+in+partnership+with+the+Center+of+Excellence+in+Genomic+Medicine+Research+at+King+Abdulaziz+University%22">Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101685193 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2056-7944 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220567944%22">20567944 </searchLink><i>NLM ISO Abbreviation: </i>NPJ Genom Med <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=30792901
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41525-018-0076-1
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 5
    Titles:
      – TitleFull: Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Scocchia A
      – PersonEntity:
          Name:
            NameFull: Wigby KM
      – PersonEntity:
          Name:
            NameFull: Masser-Frye D
      – PersonEntity:
          Name:
            NameFull: Del Campo M
      – PersonEntity:
          Name:
            NameFull: Galarreta CI
      – PersonEntity:
          Name:
            NameFull: Thorpe E
      – PersonEntity:
          Name:
            NameFull: McEachern J
      – PersonEntity:
          Name:
            NameFull: Robinson K
      – PersonEntity:
          Name:
            NameFull: Gross A
      – PersonEntity:
          Name:
            NameFull: Ajay SS
      – PersonEntity:
          Name:
            NameFull: Rajan V
      – PersonEntity:
          Name:
            NameFull: Perry DL
      – PersonEntity:
          Name:
            NameFull: Belmont JW
      – PersonEntity:
          Name:
            NameFull: Bentley DR
      – PersonEntity:
          Name:
            NameFull: Jones MC
      – PersonEntity:
          Name:
            NameFull: Taft RJ
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 14
              M: 02
              Text: 2019 Feb 14
              Type: published
              Y: 2019
          Identifiers:
            – Type: issn-electronic
              Value: 2056-7944
          Numbering:
            – Type: volume
              Value: 4
          Titles:
            – TitleFull: NPJ genomic medicine
              Type: main
ResultId 1