View in EDS HTML Full Text PDF Full Text

Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies.

Saved in:
Bibliographic Details
Title: Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies.
Authors: Hussain A; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA., Villalba MF; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 33136, USA., Swols DM; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA., Khzam RA; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 33136, USA., Johnson BK; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA., Peart L; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA., D'Haiti S; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA., Grajewski AL; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 33136, USA., Tekin M; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 33136, USA., Chang TC; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 33136, USA., Bademci G; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA. g.bademci@med.miami.edu.
Source: Scientific reports [Sci Rep] 2025 Jan 02; Vol. 15 (1), pp. 518. Date of Electronic Publication: 2025 Jan 02.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: 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: 39747279
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Hussain+A%22">Hussain A</searchLink>; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.<br /><searchLink fieldCode="AU" term="%22Villalba+MF%22">Villalba MF</searchLink>; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.<br /><searchLink fieldCode="AU" term="%22Swols+DM%22">Swols DM</searchLink>; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.<br /><searchLink fieldCode="AU" term="%22Khzam+RA%22">Khzam RA</searchLink>; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.<br /><searchLink fieldCode="AU" term="%22Johnson+BK%22">Johnson BK</searchLink>; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.<br /><searchLink fieldCode="AU" term="%22Peart+L%22">Peart L</searchLink>; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.<br /><searchLink fieldCode="AU" term="%22D'Haiti+S%22">D'Haiti S</searchLink>; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.<br /><searchLink fieldCode="AU" term="%22Grajewski+AL%22">Grajewski AL</searchLink>; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.<br /><searchLink fieldCode="AU" term="%22Tekin+M%22">Tekin M</searchLink>; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.<br /><searchLink fieldCode="AU" term="%22Chang+TC%22">Chang TC</searchLink>; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.<br /><searchLink fieldCode="AU" term="%22Bademci+G%22">Bademci G</searchLink>; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA. g.bademci@med.miami.edu.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101563288%22">Scientific reports</searchLink> [Sci Rep] 2025 Jan 02; Vol. 15 (1), pp. 518. <i>Date of Electronic Publication: </i>2025 Jan 02.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101563288 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2045-2322 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220452322%22">20452322 </searchLink><i>NLM ISO Abbreviation: </i>Sci Rep <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39747279
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41598-024-84205-6
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 518
    Titles:
      – TitleFull: Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Hussain A
      – PersonEntity:
          Name:
            NameFull: Villalba MF
      – PersonEntity:
          Name:
            NameFull: Swols DM
      – PersonEntity:
          Name:
            NameFull: Khzam RA
      – PersonEntity:
          Name:
            NameFull: Johnson BK
      – PersonEntity:
          Name:
            NameFull: Peart L
      – PersonEntity:
          Name:
            NameFull: D'Haiti S
      – PersonEntity:
          Name:
            NameFull: Grajewski AL
      – PersonEntity:
          Name:
            NameFull: Tekin M
      – PersonEntity:
          Name:
            NameFull: Chang TC
      – PersonEntity:
          Name:
            NameFull: Bademci G
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 02
              M: 01
              Text: 2025 Jan 02
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 2045-2322
          Numbering:
            – Type: volume
              Value: 15
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Scientific reports
              Type: main
ResultId 1