Semi-automated genomic newborn screening highlights complexities in reporting.
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| Title: | Semi-automated genomic newborn screening highlights complexities in reporting. |
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| Authors: | Chowdhury A; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Marri S; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Anastasi L; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Ashenden A; South Australia Neonatal Screening Centre, Genetics and Molecular Pathology Directorate, SA Pathology at Women's & Children's Hospital, North Adelaide, Australia., Rozek T; South Australia Neonatal Screening Centre, Genetics and Molecular Pathology Directorate, SA Pathology at Women's & Children's Hospital, North Adelaide, Australia., Feng J; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., DeJong L; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Kenyon R; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Kaczorowski D; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Nguyen H; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Lam K; South Australia Neonatal Screening Centre, Genetics and Molecular Pathology Directorate, SA Pathology at Women's & Children's Hospital, North Adelaide, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia., Stallard K; Paediatric and Reproductive Genetics Unit, Women's and Children's Health Network, Adelaide, SA, Australia., Merlin T; Adelaide Health Technology Assessment (AHTA), School of Public Health, The University of Adelaide, Adelaide, SA, 5000, Australia., Ranieri E; Sydney Children's Hospital at Westmead, Sydney, NSW, Australia., De Sousa S; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.; Endocrinology and Genetics at the Royal Adelaide Hospital, Adelaide, SA, Australia., Smith N; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.; Neurology and Clinical Neurophysiology, Women's and Children's Health Network, Adelaide, SA, Australia., Kulkarni A; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Saxon B; Paediatric Haematology and Oncology, Women's and Children's Health Network, Adelaide, SA, Australia., Bratkovic D; Metabolic Clinic, Women's and Children's Health Network, Adelaide, SA, Australia., Barnett C; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.; Paediatric and Reproductive Genetics Unit, Women's and Children's Health Network, Adelaide, SA, Australia., Siu CW; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; South Australia Neonatal Screening Centre, Genetics and Molecular Pathology Directorate, SA Pathology at Women's & Children's Hospital, North Adelaide, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia., Scott HS; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia., King J; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Immunology Directorate, SA Pathology, Adelaide, SA, Australia.; Department of Allergy and Clinical Immunology, Women's and Children's Hospital, Adelaide, SA, Australia., Kassahn KS; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia. karin.kassahn@sa.gov.au.; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia. karin.kassahn@sa.gov.au. |
| Source: | NPJ genomic medicine [NPJ Genom Med] 2026 Feb 10; Vol. 11 (1). Date of Electronic Publication: 2026 Feb 10. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2056-7944 |
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| DOI: | 10.1038/s41525-026-00553-4 |
