Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.
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| Title: | Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses. |
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| 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 |
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| ISSN: | 1479-7364 |
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| DOI: | 10.1186/s40246-025-00844-4 |
