View in EDS

Landscape of parental postzygotic mutations across >11,000 rare disease trios.

Saved in:
Bibliographic Details
Title: Landscape of parental postzygotic mutations across >11,000 rare disease trios.
Authors: Garcia-Salinas OI; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Andrews KA; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Sanghvi R; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Sayer JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK., Torra I Benach M; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Pham MH; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Scally A; Department of Genetics, University of Cambridge, Cambridge, UK., Martin HC; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. Electronic address: hcm@sanger.ac.uk., Rahbari R; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. Electronic address: rr11@sanger.ac.uk.
Source: American journal of human genetics [Am J Hum Genet] 2026 Jul 13. Date of Electronic Publication: 2026 Jul 13.
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 42442367
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Landscape of parental postzygotic mutations across >11,000 rare disease trios.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Garcia-Salinas+OI%22">Garcia-Salinas OI</searchLink>; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.<br /><searchLink fieldCode="AU" term="%22Andrews+KA%22">Andrews KA</searchLink>; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.<br /><searchLink fieldCode="AU" term="%22Sanghvi+R%22">Sanghvi R</searchLink>; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.<br /><searchLink fieldCode="AU" term="%22Sayer+JA%22">Sayer JA</searchLink>; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Torra+I+Benach+M%22">Torra I Benach M</searchLink>; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.<br /><searchLink fieldCode="AU" term="%22Pham+MH%22">Pham MH</searchLink>; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.<br /><searchLink fieldCode="AU" term="%22Scally+A%22">Scally A</searchLink>; Department of Genetics, University of Cambridge, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Martin+HC%22">Martin HC</searchLink>; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. Electronic address: hcm@sanger.ac.uk.<br /><searchLink fieldCode="AU" term="%22Rahbari+R%22">Rahbari R</searchLink>; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. Electronic address: rr11@sanger.ac.uk.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2026 Jul 13. <i>Date of Electronic Publication: </i>2026 Jul 13.
– 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="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42442367
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ajhg.2026.06.015
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: Landscape of parental postzygotic mutations across >11,000 rare disease trios.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Garcia-Salinas OI
      – PersonEntity:
          Name:
            NameFull: Andrews KA
      – PersonEntity:
          Name:
            NameFull: Sanghvi R
      – PersonEntity:
          Name:
            NameFull: Sayer JA
      – PersonEntity:
          Name:
            NameFull: Torra I Benach M
      – PersonEntity:
          Name:
            NameFull: Pham MH
      – PersonEntity:
          Name:
            NameFull: Scally A
      – PersonEntity:
          Name:
            NameFull: Martin HC
      – PersonEntity:
          Name:
            NameFull: Rahbari R
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 13
              M: 07
              Text: 2026 Jul 13
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1537-6605
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
ResultId 1