View in EDS HTML Full Text PDF Full Text

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

Saved in:
Bibliographic Details
Title: De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Authors: Ha T; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, USA., Morgan A; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; University of Melbourne, Parkville, Victoria, Australia.; Royal Children's Hospital, Parkville, Victoria, Australia., Bartos MN; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Beatty K; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Cogné B; CHU Nantes, Service de Génétique Médicale, L'institut du Thorax, University Nantes, Nantes, France., Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Gerber CB; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Gaspar H; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Kopps AM; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Rieubland C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Amor DJ; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; University of Melbourne, Parkville, Victoria, Australia.; Royal Children's Hospital, Parkville, Victoria, Australia., Nizon M; CHU Nantes, Service de Génétique Médicale, L'institut du Thorax, University Nantes, Nantes, France., Pasquier L; Service de Génétique Médicale, Hôpital Sud, Rennes, France., Pfundt R; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Siu VM; London Health Sciences Center and Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Tessarech M; Department of Biochemistry and Genetics, Angers University Hospital, Angers, France., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Vincent M; CHU Nantes, Service de Génétique Médicale, L'institut du Thorax, University Nantes, Nantes, France., de Vries BBA; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands., Walsh MB; Emory Healthcare, Atlanta, Georgia, USA., Wechsler SB; Departments of Pediatrics and Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Zweier C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Schnur RE; GeneDx, Gaithersburg, Maryland, USA., Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland, USA., Margot H; Université Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Masotto B; Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Palafoll MIV; Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Nawaz U; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, Australia., Voineagu I; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, Australia., Slavotinek A; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, USA.; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63559. Date of Electronic Publication: 2024 Feb 29.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A 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: 38421105
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Ha+T%22">Ha T</searchLink>; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, USA.<br /><searchLink fieldCode="AU" term="%22Morgan+A%22">Morgan A</searchLink>; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; University of Melbourne, Parkville, Victoria, Australia.; Royal Children's Hospital, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Bartos+MN%22">Bartos MN</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.<br /><searchLink fieldCode="AU" term="%22Beatty+K%22">Beatty K</searchLink>; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Cogné+B%22">Cogné B</searchLink>; CHU Nantes, Service de Génétique Médicale, L'institut du Thorax, University Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Braun+D%22">Braun D</searchLink>; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.<br /><searchLink fieldCode="AU" term="%22Gerber+CB%22">Gerber CB</searchLink>; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.<br /><searchLink fieldCode="AU" term="%22Gaspar+H%22">Gaspar H</searchLink>; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.<br /><searchLink fieldCode="AU" term="%22Kopps+AM%22">Kopps AM</searchLink>; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.<br /><searchLink fieldCode="AU" term="%22Rieubland+C%22">Rieubland C</searchLink>; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.<br /><searchLink fieldCode="AU" term="%22Hurst+ACE%22">Hurst ACE</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.<br /><searchLink fieldCode="AU" term="%22Amor+DJ%22">Amor DJ</searchLink>; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; University of Melbourne, Parkville, Victoria, Australia.; Royal Children's Hospital, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; CHU Nantes, Service de Génétique Médicale, L'institut du Thorax, University Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Pasquier+L%22">Pasquier L</searchLink>; Service de Génétique Médicale, Hôpital Sud, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Reis+A%22">Reis A</searchLink>; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Siu+VM%22">Siu VM</searchLink>; London Health Sciences Center and Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Tessarech+M%22">Tessarech M</searchLink>; Department of Biochemistry and Genetics, Angers University Hospital, Angers, France.<br /><searchLink fieldCode="AU" term="%22Thompson+ML%22">Thompson ML</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.<br /><searchLink fieldCode="AU" term="%22Vincent+M%22">Vincent M</searchLink>; CHU Nantes, Service de Génétique Médicale, L'institut du Thorax, University Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22de+Vries+BBA%22">de Vries BBA</searchLink>; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Walsh+MB%22">Walsh MB</searchLink>; Emory Healthcare, Atlanta, Georgia, USA.<br /><searchLink fieldCode="AU" term="%22Wechsler+SB%22">Wechsler SB</searchLink>; Departments of Pediatrics and Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.<br /><searchLink fieldCode="AU" term="%22Zweier+C%22">Zweier C</searchLink>; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Schnur+RE%22">Schnur RE</searchLink>; GeneDx, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Guillen+Sacoto+MJ%22">Guillen Sacoto MJ</searchLink>; GeneDx, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Margot+H%22">Margot H</searchLink>; Université Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Masotto+B%22">Masotto B</searchLink>; Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Palafoll+MIV%22">Palafoll MIV</searchLink>; Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Nawaz+U%22">Nawaz U</searchLink>; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, Australia.<br /><searchLink fieldCode="AU" term="%22Voineagu+I%22">Voineagu I</searchLink>; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Slavotinek+A%22">Slavotinek A</searchLink>; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, USA.; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63559. <i>Date of Electronic Publication: </i>2024 Feb 29.
– 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="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38421105
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/ajmg.a.63559
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: e63559
    Titles:
      – TitleFull: De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Ha T
      – PersonEntity:
          Name:
            NameFull: Morgan A
      – PersonEntity:
          Name:
            NameFull: Bartos MN
      – PersonEntity:
          Name:
            NameFull: Beatty K
      – PersonEntity:
          Name:
            NameFull: Cogné B
      – PersonEntity:
          Name:
            NameFull: Braun D
      – PersonEntity:
          Name:
            NameFull: Gerber CB
      – PersonEntity:
          Name:
            NameFull: Gaspar H
      – PersonEntity:
          Name:
            NameFull: Kopps AM
      – PersonEntity:
          Name:
            NameFull: Rieubland C
      – PersonEntity:
          Name:
            NameFull: Hurst ACE
      – PersonEntity:
          Name:
            NameFull: Amor DJ
      – PersonEntity:
          Name:
            NameFull: Nizon M
      – PersonEntity:
          Name:
            NameFull: Pasquier L
      – PersonEntity:
          Name:
            NameFull: Pfundt R
      – PersonEntity:
          Name:
            NameFull: Reis A
      – PersonEntity:
          Name:
            NameFull: Siu VM
      – PersonEntity:
          Name:
            NameFull: Tessarech M
      – PersonEntity:
          Name:
            NameFull: Thompson ML
      – PersonEntity:
          Name:
            NameFull: Vincent M
      – PersonEntity:
          Name:
            NameFull: de Vries BBA
      – PersonEntity:
          Name:
            NameFull: Walsh MB
      – PersonEntity:
          Name:
            NameFull: Wechsler SB
      – PersonEntity:
          Name:
            NameFull: Zweier C
      – PersonEntity:
          Name:
            NameFull: Schnur RE
      – PersonEntity:
          Name:
            NameFull: Guillen Sacoto MJ
      – PersonEntity:
          Name:
            NameFull: Margot H
      – PersonEntity:
          Name:
            NameFull: Masotto B
      – PersonEntity:
          Name:
            NameFull: Palafoll MIV
      – PersonEntity:
          Name:
            NameFull: Nawaz U
      – PersonEntity:
          Name:
            NameFull: Voineagu I
      – PersonEntity:
          Name:
            NameFull: Slavotinek A
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 07
              Text: 2024 Jul
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1552-4833
          Numbering:
            – Type: volume
              Value: 194
            – Type: issue
              Value: 7
          Titles:
            – TitleFull: American journal of medical genetics. Part A
              Type: main
ResultId 1