View in EDS

CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.

Saved in:
Bibliographic Details
Title: CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.
Authors: Steigerwald C; Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY 10016, USA., Borsuk J; Division of Clinical Genetics, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY 10016, USA., Pappas J; Division of Clinical Genetics, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY 10016, USA., Galey M; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA 98195, USA., Scott A; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 08105, USA., Devaney JM; GeneDx, Gaithersburg, MD 20877, USA., Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA 98195, USA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98195, USA., Abreu NJ; Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY 10016, USA. Electronic address: nicolas.abreu@nyulagone.org.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2023 Dec; Vol. 140 (4), pp. 107713. Date of Electronic Publication: 2023 Oct 30.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 37922835
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Steigerwald+C%22">Steigerwald C</searchLink>; Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY 10016, USA.<br /><searchLink fieldCode="AU" term="%22Borsuk+J%22">Borsuk J</searchLink>; Division of Clinical Genetics, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY 10016, USA.<br /><searchLink fieldCode="AU" term="%22Pappas+J%22">Pappas J</searchLink>; Division of Clinical Genetics, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY 10016, USA.<br /><searchLink fieldCode="AU" term="%22Galey+M%22">Galey M</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Scott+A%22">Scott A</searchLink>; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 08105, USA.<br /><searchLink fieldCode="AU" term="%22Devaney+JM%22">Devaney JM</searchLink>; GeneDx, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Miller+DE%22">Miller DE</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA 98195, USA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Abreu+NJ%22">Abreu NJ</searchLink>; Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY 10016, USA. Electronic address: nicolas.abreu@nyulagone.org.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229805456%22">Molecular genetics and metabolism</searchLink> [Mol Genet Metab] 2023 Dec; Vol. 140 (4), pp. 107713. <i>Date of Electronic Publication: </i>2023 Oct 30.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, N.I.H., Extramural
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Academic+Press%22">Academic Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9805456 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1096-7206 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210967192%22">10967192 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37922835
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ymgme.2023.107713
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 107713
    Titles:
      – TitleFull: CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Steigerwald C
      – PersonEntity:
          Name:
            NameFull: Borsuk J
      – PersonEntity:
          Name:
            NameFull: Pappas J
      – PersonEntity:
          Name:
            NameFull: Galey M
      – PersonEntity:
          Name:
            NameFull: Scott A
      – PersonEntity:
          Name:
            NameFull: Devaney JM
      – PersonEntity:
          Name:
            NameFull: Miller DE
      – PersonEntity:
          Name:
            NameFull: Abreu NJ
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 12
              Text: 2023 Dec
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-electronic
              Value: 1096-7206
          Numbering:
            – Type: volume
              Value: 140
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: Molecular genetics and metabolism
              Type: main
ResultId 1