View in EDS HTML Full Text PDF Full Text

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.

Saved in:
Bibliographic Details
Title: Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.
Authors: Frank MSB; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, Australia., Bennett MK; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia., Ha TT; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, University of Adelaide, Adelaide, SA, 5000, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia., Moore L; Adelaide Medical School, University of Adelaide, Adelaide, SA, 5000, Australia.; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, SA, Australia., Arts P; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.; Adelaide Medical School, University of Adelaide, Adelaide, SA, 5000, Australia., Byrne AB; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia., Babic M; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia., Arriola-Martinez L; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia., Toubia J; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia., Brautigan PJ; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia., Feng J; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia., Schwarz Q; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia., Thomas PQ; Robinson Research Institute, School of Biomedicine, The University of Adelaide, Adelaide, SA, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, Australia., Piltz SG; Robinson Research Institute, School of Biomedicine, The University of Adelaide, Adelaide, SA, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, Australia., White MA; Robinson Research Institute, School of Biomedicine, The University of Adelaide, Adelaide, SA, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, Australia., Moghimi A; The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.; Department of Histopathology, The Children's Hospital at Westmead, Sydney, NSW, Australia., Strachan K; Anatomical Pathology, Royal Women's Hospital (A Division of Royal Children's Hospital Laboratory Services), Melbourne, VIC, Australia., Kwan E; Department of Pathology, Monash Health, Melbourne, VIC, Australia., Springer A; Department of Paediatrics, Monash University, Melbourne, VIC, Australia.; Australian Institute of Health Innovation, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, Australia., Lewit-Mendes M; Monash Genetics, Monash Health, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Dearman J; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia., Davis T; Royal Women's Hospital, Melbourne, VIC, Australia., Kevin L; Department of Clinical Genetics, Sydney Children's Hospitals Network-Westmead, Sydney, NSW, Australia., McCarthy HJ; KidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.; Centre for Kidney Research, Kids Research Institute and the Department of Nephrology, The Children's Hospital at Westmead, Westmead, NSW, Australia., Liebelt J; Adelaide Medical School, University of Adelaide, Adelaide, SA, 5000, Australia.; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia., Krzesinski E; Department of Paediatrics, Monash University, Melbourne, VIC, Australia.; Monash Genetics, Monash Health, Melbourne, VIC, Australia., Regan M; Department of Paediatrics, Monash University, Melbourne, VIC, Australia.; Monash Genetics, Monash Health, Melbourne, VIC, Australia., Verma K; Monash Genetics, Monash Health, Melbourne, VIC, Australia., McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Royal Women's Hospital, Melbourne, VIC, Australia., Jayasinghe K; Department of Nephrology, Monash Health, Clayton, VIC, Australia.; Department of Medicine, Monash University, Melbourne, VIC, Australia., Jackson MR; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.; Australian Genomics, Parkville, VIC, Australia., Barnett CP; Adelaide Medical School, University of Adelaide, Adelaide, SA, 5000, Australia. christopher.barnett@sa.gov.au.; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia. christopher.barnett@sa.gov.au., Scott HS; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia. hamish.scott@sa.gov.au.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia. hamish.scott@sa.gov.au.; Adelaide Medical School, University of Adelaide, Adelaide, SA, 5000, Australia. hamish.scott@sa.gov.au.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia. hamish.scott@sa.gov.au.; Australian Genomics, Parkville, VIC, Australia. hamish.scott@sa.gov.au.
Source: Human genomics [Hum Genomics] 2025 Nov 12; Vol. 19 (1), pp. 132. Date of Electronic Publication: 2025 Nov 12.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics 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: 41225654
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Frank+MSB%22">Frank MSB</searchLink>; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Bennett+MK%22">Bennett MK</searchLink>; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.<br /><searchLink fieldCode="AU" term="%22Ha+TT%22">Ha TT</searchLink>; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School, University of Adelaide, Adelaide, SA, 5000, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Moore+L%22">Moore L</searchLink>; Adelaide Medical School, University of Adelaide, Adelaide, SA, 5000, Australia.; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Arts+P%22">Arts P</searchLink>; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.; Adelaide Medical School, University of Adelaide, Adelaide, SA, 5000, Australia.<br /><searchLink fieldCode="AU" term="%22Byrne+AB%22">Byrne AB</searchLink>; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Babic+M%22">Babic M</searchLink>; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.<br /><searchLink fieldCode="AU" term="%22Arriola-Martinez+L%22">Arriola-Martinez L</searchLink>; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Toubia+J%22">Toubia J</searchLink>; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Brautigan+PJ%22">Brautigan PJ</searchLink>; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Feng+J%22">Feng J</searchLink>; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Schwarz+Q%22">Schwarz Q</searchLink>; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Thomas+PQ%22">Thomas PQ</searchLink>; Robinson Research Institute, School of Biomedicine, The University of Adelaide, Adelaide, SA, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Piltz+SG%22">Piltz SG</searchLink>; Robinson Research Institute, School of Biomedicine, The University of Adelaide, Adelaide, SA, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22White+MA%22">White MA</searchLink>; Robinson Research Institute, School of Biomedicine, The University of Adelaide, Adelaide, SA, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Moghimi+A%22">Moghimi A</searchLink>; The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.; Department of Histopathology, The Children's Hospital at Westmead, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Strachan+K%22">Strachan K</searchLink>; Anatomical Pathology, Royal Women's Hospital (A Division of Royal Children's Hospital Laboratory Services), Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Kwan+E%22">Kwan E</searchLink>; Department of Pathology, Monash Health, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Springer+A%22">Springer A</searchLink>; Department of Paediatrics, Monash University, Melbourne, VIC, Australia.; Australian Institute of Health Innovation, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Lewit-Mendes+M%22">Lewit-Mendes M</searchLink>; Monash Genetics, Monash Health, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Dearman+J%22">Dearman J</searchLink>; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Davis+T%22">Davis T</searchLink>; Royal Women's Hospital, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Kevin+L%22">Kevin L</searchLink>; Department of Clinical Genetics, Sydney Children's Hospitals Network-Westmead, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22McCarthy+HJ%22">McCarthy HJ</searchLink>; KidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.; Centre for Kidney Research, Kids Research Institute and the Department of Nephrology, The Children's Hospital at Westmead, Westmead, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Liebelt+J%22">Liebelt J</searchLink>; Adelaide Medical School, University of Adelaide, Adelaide, SA, 5000, Australia.; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Krzesinski+E%22">Krzesinski E</searchLink>; Department of Paediatrics, Monash University, Melbourne, VIC, Australia.; Monash Genetics, Monash Health, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Regan+M%22">Regan M</searchLink>; Department of Paediatrics, Monash University, Melbourne, VIC, Australia.; Monash Genetics, Monash Health, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Verma+K%22">Verma K</searchLink>; Monash Genetics, Monash Health, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22McGillivray+G%22">McGillivray G</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Royal Women's Hospital, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Jayasinghe+K%22">Jayasinghe K</searchLink>; Department of Nephrology, Monash Health, Clayton, VIC, Australia.; Department of Medicine, Monash University, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Jackson+MR%22">Jackson MR</searchLink>; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.; Australian Genomics, Parkville, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Barnett+CP%22">Barnett CP</searchLink>; Adelaide Medical School, University of Adelaide, Adelaide, SA, 5000, Australia. christopher.barnett@sa.gov.au.; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia. christopher.barnett@sa.gov.au.<br /><searchLink fieldCode="AU" term="%22Scott+HS%22">Scott HS</searchLink>; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia. hamish.scott@sa.gov.au.; ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia. hamish.scott@sa.gov.au.; Adelaide Medical School, University of Adelaide, Adelaide, SA, 5000, Australia. hamish.scott@sa.gov.au.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia. hamish.scott@sa.gov.au.; Australian Genomics, Parkville, VIC, Australia. hamish.scott@sa.gov.au.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101202210%22">Human genomics</searchLink> [Hum Genomics] 2025 Nov 12; Vol. 19 (1), pp. 132. <i>Date of Electronic Publication: </i>2025 Nov 12.
– 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="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101202210 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1479-7364 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214739542%22">14739542 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genomics <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41225654
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s40246-025-00844-4
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 132
    Titles:
      – TitleFull: Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Frank MSB
      – PersonEntity:
          Name:
            NameFull: Bennett MK
      – PersonEntity:
          Name:
            NameFull: Ha TT
      – PersonEntity:
          Name:
            NameFull: Moore L
      – PersonEntity:
          Name:
            NameFull: Arts P
      – PersonEntity:
          Name:
            NameFull: Byrne AB
      – PersonEntity:
          Name:
            NameFull: Babic M
      – PersonEntity:
          Name:
            NameFull: Arriola-Martinez L
      – PersonEntity:
          Name:
            NameFull: Toubia J
      – PersonEntity:
          Name:
            NameFull: Brautigan PJ
      – PersonEntity:
          Name:
            NameFull: Feng J
      – PersonEntity:
          Name:
            NameFull: Schwarz Q
      – PersonEntity:
          Name:
            NameFull: Thomas PQ
      – PersonEntity:
          Name:
            NameFull: Piltz SG
      – PersonEntity:
          Name:
            NameFull: White MA
      – PersonEntity:
          Name:
            NameFull: Moghimi A
      – PersonEntity:
          Name:
            NameFull: Strachan K
      – PersonEntity:
          Name:
            NameFull: Kwan E
      – PersonEntity:
          Name:
            NameFull: Springer A
      – PersonEntity:
          Name:
            NameFull: Lewit-Mendes M
      – PersonEntity:
          Name:
            NameFull: Dearman J
      – PersonEntity:
          Name:
            NameFull: Davis T
      – PersonEntity:
          Name:
            NameFull: Kevin L
      – PersonEntity:
          Name:
            NameFull: McCarthy HJ
      – PersonEntity:
          Name:
            NameFull: Liebelt J
      – PersonEntity:
          Name:
            NameFull: Krzesinski E
      – PersonEntity:
          Name:
            NameFull: Regan M
      – PersonEntity:
          Name:
            NameFull: Verma K
      – PersonEntity:
          Name:
            NameFull: McGillivray G
      – PersonEntity:
          Name:
            NameFull: Jayasinghe K
      – PersonEntity:
          Name:
            NameFull: Jackson MR
      – PersonEntity:
          Name:
            NameFull: Barnett CP
      – PersonEntity:
          Name:
            NameFull: Scott HS
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 12
              M: 11
              Text: 2025 Nov 12
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1479-7364
          Numbering:
            – Type: volume
              Value: 19
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Human genomics
              Type: main
ResultId 1