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NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study.

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Title: NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study.
Authors: Anastasi L; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Chowdhury A; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Ashenden A; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; South Australia Neonatal Screening Centre, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia., Rozek T; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; South Australia Neonatal Screening Centre, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia., Louise J; South Australian Health and Medical Research Institute Limited, Adelaide, South Australia, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia., Lam K; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; South Australia Neonatal Screening Centre, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia., Skinner S; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Stallard K; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Merlin T; AHTA, School of Public Health, University of Adelaide, Adelaide, South Australia, Australia.; Adelaide Health Technology Assessment (AHTA), The University of Adelaide, Adelaide, South Australia, Australia., Schubert C; Adelaide Health Technology Assessment (AHTA), The University of Adelaide, Adelaide, South Australia, Australia., Vogan A; Adelaide Health Technology Assessment (AHTA), The University of Adelaide, Adelaide, South Australia, Australia., Morris S; Flinders Medical Centre, Bedford Park, South Australia, Australia., Cohen-Woods S; Flinders University Institute for Mental Health and Wellbeing, Bedford Park, South Australia, Australia.; Flinders Centre for Innovation in Cancer, College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia., Smith N; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.; Neurology and Clinical Neurophysiology, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Ranieri E; Sydney Children's Hospital at Westmead, Sydney, New South Wales, Australia., Saxon B; Haematology and Oncology Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Scott HS; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, University of South Australia, Adelaide, South Australia, Australia., Bratkovic D; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Barnett CP; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Siu CW; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; South Australia Neonatal Screening Centre, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia., King J; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.; Allergy and Clinical Immunology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Immunology Directorate, SA Pathology, Adelaide, South Australia, Australia., Kassahn KS; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia karin.kassahn@sa.gov.au.; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.
Source: BMJ open [BMJ Open] 2026 Mar 11; Vol. 16 (3), pp. e108406. Date of Electronic Publication: 2026 Mar 11.
Publication Type: Journal Article
Journal Info: Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-6055 (Electronic) Linking ISSN: 20446055 NLM ISO Abbreviation: BMJ Open Subsets: MEDLINE
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  Data: NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study.
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  Data: <searchLink fieldCode="AU" term="%22Anastasi+L%22">Anastasi L</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Chowdhury+A%22">Chowdhury A</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Ashenden+A%22">Ashenden A</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; South Australia Neonatal Screening Centre, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Rozek+T%22">Rozek T</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; South Australia Neonatal Screening Centre, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Louise+J%22">Louise J</searchLink>; South Australian Health and Medical Research Institute Limited, Adelaide, South Australia, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Lam+K%22">Lam K</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; South Australia Neonatal Screening Centre, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Skinner+S%22">Skinner S</searchLink>; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Stallard+K%22">Stallard K</searchLink>; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Merlin+T%22">Merlin T</searchLink>; AHTA, School of Public Health, University of Adelaide, Adelaide, South Australia, Australia.; Adelaide Health Technology Assessment (AHTA), The University of Adelaide, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Schubert+C%22">Schubert C</searchLink>; Adelaide Health Technology Assessment (AHTA), The University of Adelaide, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Vogan+A%22">Vogan A</searchLink>; Adelaide Health Technology Assessment (AHTA), The University of Adelaide, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Morris+S%22">Morris S</searchLink>; Flinders Medical Centre, Bedford Park, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Cohen-Woods+S%22">Cohen-Woods S</searchLink>; Flinders University Institute for Mental Health and Wellbeing, Bedford Park, South Australia, Australia.; Flinders Centre for Innovation in Cancer, College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Smith+N%22">Smith N</searchLink>; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.; Neurology and Clinical Neurophysiology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Ranieri+E%22">Ranieri E</searchLink>; Sydney Children's Hospital at Westmead, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Saxon+B%22">Saxon B</searchLink>; Haematology and Oncology Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Scott+HS%22">Scott HS</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.; Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, University of South Australia, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Bratkovic+D%22">Bratkovic D</searchLink>; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Barnett+CP%22">Barnett CP</searchLink>; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Siu+CW%22">Siu CW</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; South Australia Neonatal Screening Centre, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22King+J%22">King J</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.; Allergy and Clinical Immunology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Immunology Directorate, SA Pathology, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Kassahn+KS%22">Kassahn KS</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia karin.kassahn@sa.gov.au.; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.
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  Data: <searchLink fieldCode="JN" term="%22101552874%22">BMJ open</searchLink> [BMJ Open] 2026 Mar 11; Vol. 16 (3), pp. e108406. <i>Date of Electronic Publication: </i>2026 Mar 11.
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