View in EDS PDF Full Text

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.

Saved in:
Bibliographic Details
Title: Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
Authors: Hunter JM; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA., Massingham LJ; Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, Rhode Island 02903, USA.; Alpert School of Medicine at Brown University, Providence, Rhode Island 02903, USA., Manickam K; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.; Division of Genetic and Genomic Medicine., Bartholomew D; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.; Division of Genetic and Genomic Medicine., Williamson RK; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Schwab JL; Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, Rhode Island 02903, USA., Marhabaie M; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Siemon A; Division of Genetic and Genomic Medicine., de Los Reyes E; Division of Neurology, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Reshmi SC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA., Cottrell CE; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA., Wilson RK; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA., Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.
Source: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2022 Mar 24; Vol. 8 (2). Date of Electronic Publication: 2022 Mar 24 (Print Publication: 2022).
Publication Type: Journal Article
Journal Info: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Links:
  – Type: pdflink
Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 35091509
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Hunter+JM%22">Hunter JM</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.<br /><searchLink fieldCode="AU" term="%22Massingham+LJ%22">Massingham LJ</searchLink>; Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, Rhode Island 02903, USA.; Alpert School of Medicine at Brown University, Providence, Rhode Island 02903, USA.<br /><searchLink fieldCode="AU" term="%22Manickam+K%22">Manickam K</searchLink>; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.; Division of Genetic and Genomic Medicine.<br /><searchLink fieldCode="AU" term="%22Bartholomew+D%22">Bartholomew D</searchLink>; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.; Division of Genetic and Genomic Medicine.<br /><searchLink fieldCode="AU" term="%22Williamson+RK%22">Williamson RK</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.<br /><searchLink fieldCode="AU" term="%22Schwab+JL%22">Schwab JL</searchLink>; Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, Rhode Island 02903, USA.<br /><searchLink fieldCode="AU" term="%22Marhabaie+M%22">Marhabaie M</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.<br /><searchLink fieldCode="AU" term="%22Siemon+A%22">Siemon A</searchLink>; Division of Genetic and Genomic Medicine.<br /><searchLink fieldCode="AU" term="%22de+Los+Reyes+E%22">de Los Reyes E</searchLink>; Division of Neurology, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.<br /><searchLink fieldCode="AU" term="%22Reshmi+SC%22">Reshmi SC</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.<br /><searchLink fieldCode="AU" term="%22Cottrell+CE%22">Cottrell CE</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.<br /><searchLink fieldCode="AU" term="%22Wilson+RK%22">Wilson RK</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.<br /><searchLink fieldCode="AU" term="%22Koboldt+DC%22">Koboldt DC</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101660017%22">Cold Spring Harbor molecular case studies</searchLink> [Cold Spring Harb Mol Case Stud] 2022 Mar 24; Vol. 8 (2). <i>Date of Electronic Publication: </i>2022 Mar 24 (<i>Print Publication: </i>2022).
– 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="%22Cold+Spring+Harbor+Laboratory+Press%22">Cold Spring Harbor Laboratory Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101660017 <i>Publication Model: </i>Electronic-Print <i>Cited Medium: </i>Internet <i>ISSN: </i>2373-2873 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223732873%22">23732873 </searchLink><i>NLM ISO Abbreviation: </i>Cold Spring Harb Mol Case Stud <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35091509
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1101/mcs.a006180
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Hunter JM
      – PersonEntity:
          Name:
            NameFull: Massingham LJ
      – PersonEntity:
          Name:
            NameFull: Manickam K
      – PersonEntity:
          Name:
            NameFull: Bartholomew D
      – PersonEntity:
          Name:
            NameFull: Williamson RK
      – PersonEntity:
          Name:
            NameFull: Schwab JL
      – PersonEntity:
          Name:
            NameFull: Marhabaie M
      – PersonEntity:
          Name:
            NameFull: Siemon A
      – PersonEntity:
          Name:
            NameFull: de Los Reyes E
      – PersonEntity:
          Name:
            NameFull: Reshmi SC
      – PersonEntity:
          Name:
            NameFull: Cottrell CE
      – PersonEntity:
          Name:
            NameFull: Wilson RK
      – PersonEntity:
          Name:
            NameFull: Koboldt DC
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 24
              M: 03
              Text: 2022 Mar 24
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 2373-2873
          Numbering:
            – Type: volume
              Value: 8
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Cold Spring Harbor molecular case studies
              Type: main
ResultId 1