View in EDS HTML Full Text PDF Full Text

Semi-automated genomic newborn screening highlights complexities in reporting.

Saved in:
Bibliographic Details
Title: Semi-automated genomic newborn screening highlights complexities in reporting.
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
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41667506
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Semi-automated genomic newborn screening highlights complexities in reporting.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Chowdhury+A%22">Chowdhury A</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Marri+S%22">Marri S</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Anastasi+L%22">Anastasi L</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Ashenden+A%22">Ashenden A</searchLink>; South Australia Neonatal Screening Centre, Genetics and Molecular Pathology Directorate, SA Pathology at Women's & Children's Hospital, North Adelaide, Australia.<br /><searchLink fieldCode="AU" term="%22Rozek+T%22">Rozek T</searchLink>; South Australia Neonatal Screening Centre, Genetics and Molecular Pathology Directorate, SA Pathology at Women's & Children's Hospital, North Adelaide, Australia.<br /><searchLink fieldCode="AU" term="%22Feng+J%22">Feng J</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22DeJong+L%22">DeJong L</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Kenyon+R%22">Kenyon R</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Kaczorowski+D%22">Kaczorowski D</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Nguyen+H%22">Nguyen H</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Lam+K%22">Lam K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Stallard+K%22">Stallard K</searchLink>; Paediatric and Reproductive Genetics Unit, Women's and Children's Health Network, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Merlin+T%22">Merlin T</searchLink>; Adelaide Health Technology Assessment (AHTA), School of Public Health, The University of Adelaide, Adelaide, SA, 5000, Australia.<br /><searchLink fieldCode="AU" term="%22Ranieri+E%22">Ranieri E</searchLink>; Sydney Children's Hospital at Westmead, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22De+Sousa+S%22">De Sousa S</searchLink>; 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.<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, SA, Australia.; Neurology and Clinical Neurophysiology, Women's and Children's Health Network, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Kulkarni+A%22">Kulkarni A</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Saxon+B%22">Saxon B</searchLink>; Paediatric Haematology and Oncology, Women's and Children's Health Network, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Bratkovic+D%22">Bratkovic D</searchLink>; Metabolic Clinic, Women's and Children's Health Network, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Barnett+C%22">Barnett C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Siu+CW%22">Siu CW</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Scott+HS%22">Scott HS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22King+J%22">King J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kassahn+KS%22">Kassahn KS</searchLink>; 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.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2026 Feb 10; Vol. 11 (1). <i>Date of Electronic Publication: </i>2026 Feb 10.
– 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="%22Springer+Nature+in+partnership+with+the+Center+of+Excellence+in+Genomic+Medicine+Research+at+King+Abdulaziz+University%22">Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101685193 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2056-7944 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220567944%22">20567944 </searchLink><i>NLM ISO Abbreviation: </i>NPJ Genom Med <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41667506
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41525-026-00553-4
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: Semi-automated genomic newborn screening highlights complexities in reporting.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Chowdhury A
      – PersonEntity:
          Name:
            NameFull: Marri S
      – PersonEntity:
          Name:
            NameFull: Anastasi L
      – PersonEntity:
          Name:
            NameFull: Ashenden A
      – PersonEntity:
          Name:
            NameFull: Rozek T
      – PersonEntity:
          Name:
            NameFull: Feng J
      – PersonEntity:
          Name:
            NameFull: DeJong L
      – PersonEntity:
          Name:
            NameFull: Kenyon R
      – PersonEntity:
          Name:
            NameFull: Kaczorowski D
      – PersonEntity:
          Name:
            NameFull: Nguyen H
      – PersonEntity:
          Name:
            NameFull: Lam K
      – PersonEntity:
          Name:
            NameFull: Stallard K
      – PersonEntity:
          Name:
            NameFull: Merlin T
      – PersonEntity:
          Name:
            NameFull: Ranieri E
      – PersonEntity:
          Name:
            NameFull: De Sousa S
      – PersonEntity:
          Name:
            NameFull: Smith N
      – PersonEntity:
          Name:
            NameFull: Kulkarni A
      – PersonEntity:
          Name:
            NameFull: Saxon B
      – PersonEntity:
          Name:
            NameFull: Bratkovic D
      – PersonEntity:
          Name:
            NameFull: Barnett C
      – PersonEntity:
          Name:
            NameFull: Siu CW
      – PersonEntity:
          Name:
            NameFull: Scott HS
      – PersonEntity:
          Name:
            NameFull: King J
      – PersonEntity:
          Name:
            NameFull: Kassahn KS
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 10
              M: 02
              Text: 2026 Feb 10
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 2056-7944
          Numbering:
            – Type: volume
              Value: 11
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: NPJ genomic medicine
              Type: main
ResultId 1