View in EDS HTML Full Text PDF Full Text

Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.

Saved in:
Bibliographic Details
Title: Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.
Authors: Burnight ER; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Fenner BJ; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Han IC; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., DeLuca AP; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Whitmore SS; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Bohrer LR; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Andorf JL; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Sohn EH; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Mullins RF; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Tucker BA; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Stone EM; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States.
Source: Human molecular genetics [Hum Mol Genet] 2024 Aug 06; Vol. 33 (16), pp. 1379-1390.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet 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: 37930186
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Burnight+ER%22">Burnight ER</searchLink>; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States.<br /><searchLink fieldCode="AU" term="%22Fenner+BJ%22">Fenner BJ</searchLink>; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States.<br /><searchLink fieldCode="AU" term="%22Han+IC%22">Han IC</searchLink>; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States.<br /><searchLink fieldCode="AU" term="%22DeLuca+AP%22">DeLuca AP</searchLink>; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States.<br /><searchLink fieldCode="AU" term="%22Whitmore+SS%22">Whitmore SS</searchLink>; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States.<br /><searchLink fieldCode="AU" term="%22Bohrer+LR%22">Bohrer LR</searchLink>; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States.<br /><searchLink fieldCode="AU" term="%22Andorf+JL%22">Andorf JL</searchLink>; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States.<br /><searchLink fieldCode="AU" term="%22Sohn+EH%22">Sohn EH</searchLink>; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States.<br /><searchLink fieldCode="AU" term="%22Mullins+RF%22">Mullins RF</searchLink>; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States.<br /><searchLink fieldCode="AU" term="%22Tucker+BA%22">Tucker BA</searchLink>; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States.<br /><searchLink fieldCode="AU" term="%22Stone+EM%22">Stone EM</searchLink>; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229208958%22">Human molecular genetics</searchLink> [Hum Mol Genet] 2024 Aug 06; Vol. 33 (16), pp. 1379-1390.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IRL+Press+at+Oxford+University+Press%22">IRL Press at Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9208958 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2083 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209646906%22">09646906 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mol Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37930186
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1093/hmg/ddad176
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 1379
    Titles:
      – TitleFull: Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Burnight ER
      – PersonEntity:
          Name:
            NameFull: Fenner BJ
      – PersonEntity:
          Name:
            NameFull: Han IC
      – PersonEntity:
          Name:
            NameFull: DeLuca AP
      – PersonEntity:
          Name:
            NameFull: Whitmore SS
      – PersonEntity:
          Name:
            NameFull: Bohrer LR
      – PersonEntity:
          Name:
            NameFull: Andorf JL
      – PersonEntity:
          Name:
            NameFull: Sohn EH
      – PersonEntity:
          Name:
            NameFull: Mullins RF
      – PersonEntity:
          Name:
            NameFull: Tucker BA
      – PersonEntity:
          Name:
            NameFull: Stone EM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 06
              M: 08
              Text: 2024 Aug 06
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1460-2083
          Numbering:
            – Type: volume
              Value: 33
            – Type: issue
              Value: 16
          Titles:
            – TitleFull: Human molecular genetics
              Type: main
ResultId 1