View in EDS

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

Saved in:
Bibliographic Details
Title: Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.
Authors: Ball M; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Royal Children's Hospital, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia. Electronic address: megan.ball@mcri.edu.au., Bouffler SE; Australian Genomics, Melbourne, Australia., Barnett CB; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, Australia; Adelaide Medical School, The University of Adelaide, Adelaide, Australia., Freckmann ML; Department of Clinical Genetics, The Canberra Hospital, Canberra, Australia., Hunter MF; Monash Genetics, Monash Health, Melbourne, Australia; Department of Paediatrics, Monash University, Melbourne, Australia., Kamien B; Genetic Services of Western Australia, Perth, Australia., Kassahn KS; Adelaide Medical School, The University of Adelaide, Adelaide, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Australian Genomics, Melbourne, Australia., Patel CV; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia., Pinner J; Sydney Children's Hospitals Network - Randwick, Sydney, Australia; University of New South Wales, Sydney, New South Wales, Australia., Roscioli T; NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia; Euroscience Research Australia, University of New South Wales, Sydney, Australia., Sandaradura SA; Sydney Children's Hospitals Network-Westmead, Sydney, Australia; University of Sydney, Sydney, Australia., Scott HS; Australian Genomics, Melbourne, Australia; Adelaide Medical School, The University of Adelaide, Adelaide, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, Australia; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia., Tan TY; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, Australia; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia., Compton AG; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Thorburn DR; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Stark Z; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Australian Genomics, Melbourne, Australia., Christodoulou J; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Australian Genomics, Melbourne, Australia. Electronic address: john.christodoulou@mcri.edu.au.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Jan; Vol. 27 (1), pp. 101293. Date of Electronic Publication: 2024 Oct 15.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39417332
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Ball+M%22">Ball M</searchLink>; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Royal Children's Hospital, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia. Electronic address: megan.ball@mcri.edu.au.<br /><searchLink fieldCode="AU" term="%22Bouffler+SE%22">Bouffler SE</searchLink>; Australian Genomics, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Barnett+CB%22">Barnett CB</searchLink>; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, Australia; Adelaide Medical School, The University of Adelaide, Adelaide, Australia.<br /><searchLink fieldCode="AU" term="%22Freckmann+ML%22">Freckmann ML</searchLink>; Department of Clinical Genetics, The Canberra Hospital, Canberra, Australia.<br /><searchLink fieldCode="AU" term="%22Hunter+MF%22">Hunter MF</searchLink>; Monash Genetics, Monash Health, Melbourne, Australia; Department of Paediatrics, Monash University, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Kamien+B%22">Kamien B</searchLink>; Genetic Services of Western Australia, Perth, Australia.<br /><searchLink fieldCode="AU" term="%22Kassahn+KS%22">Kassahn KS</searchLink>; Adelaide Medical School, The University of Adelaide, Adelaide, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.<br /><searchLink fieldCode="AU" term="%22Lunke+S%22">Lunke S</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Australian Genomics, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Patel+CV%22">Patel CV</searchLink>; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.<br /><searchLink fieldCode="AU" term="%22Pinner+J%22">Pinner J</searchLink>; Sydney Children's Hospitals Network - Randwick, Sydney, Australia; University of New South Wales, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Roscioli+T%22">Roscioli T</searchLink>; NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia; Euroscience Research Australia, University of New South Wales, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Sandaradura+SA%22">Sandaradura SA</searchLink>; Sydney Children's Hospitals Network-Westmead, Sydney, Australia; University of Sydney, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Scott+HS%22">Scott HS</searchLink>; Australian Genomics, Melbourne, Australia; Adelaide Medical School, The University of Adelaide, Adelaide, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, Australia; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia.<br /><searchLink fieldCode="AU" term="%22Tan+TY%22">Tan TY</searchLink>; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Wallis+M%22">Wallis M</searchLink>; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, Australia; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia.<br /><searchLink fieldCode="AU" term="%22Compton+AG%22">Compton AG</searchLink>; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Thorburn+DR%22">Thorburn DR</searchLink>; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Stark+Z%22">Stark Z</searchLink>; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Australian Genomics, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Christodoulou+J%22">Christodoulou J</searchLink>; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Australian Genomics, Melbourne, Australia. Electronic address: john.christodoulou@mcri.edu.au.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2025 Jan; Vol. 27 (1), pp. 101293. <i>Date of Electronic Publication: </i>2024 Oct 15.
– 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="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39417332
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.gim.2024.101293
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 101293
    Titles:
      – TitleFull: Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Ball M
      – PersonEntity:
          Name:
            NameFull: Bouffler SE
      – PersonEntity:
          Name:
            NameFull: Barnett CB
      – PersonEntity:
          Name:
            NameFull: Freckmann ML
      – PersonEntity:
          Name:
            NameFull: Hunter MF
      – PersonEntity:
          Name:
            NameFull: Kamien B
      – PersonEntity:
          Name:
            NameFull: Kassahn KS
      – PersonEntity:
          Name:
            NameFull: Lunke S
      – PersonEntity:
          Name:
            NameFull: Patel CV
      – PersonEntity:
          Name:
            NameFull: Pinner J
      – PersonEntity:
          Name:
            NameFull: Roscioli T
      – PersonEntity:
          Name:
            NameFull: Sandaradura SA
      – PersonEntity:
          Name:
            NameFull: Scott HS
      – PersonEntity:
          Name:
            NameFull: Tan TY
      – PersonEntity:
          Name:
            NameFull: Wallis M
      – PersonEntity:
          Name:
            NameFull: Compton AG
      – PersonEntity:
          Name:
            NameFull: Thorburn DR
      – PersonEntity:
          Name:
            NameFull: Stark Z
      – PersonEntity:
          Name:
            NameFull: Christodoulou J
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 01
              Text: 2025 Jan
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1530-0366
          Numbering:
            – Type: volume
              Value: 27
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics
              Type: main
ResultId 1