Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
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| Title: | Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico. |
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| 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 |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 30792901 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| 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 |
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