Mainstreaming genomic testing for mitochondrial disease in Australia.
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| Title: | Mainstreaming genomic testing for mitochondrial disease in Australia. |
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| Authors: | Ball M; Murdoch Children's Research Institute, Melbourne, VIC, Australia. megan.ball@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia. megan.ball@mcri.edu.au.; Royal Children's Hospital, Melbourne, VIC, Australia. megan.ball@mcri.edu.au., Baker N; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Lim SC; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Casauria S; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Pathology, University of Melbourne, Melbourne, VIC, Australia., Compton AG; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Thorburn DR; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Christodoulou J; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Stark Z; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia. zornitza.stark@vcgs.org.au.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia. zornitza.stark@vcgs.org.au. |
| Source: | European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 658-666. Date of Electronic Publication: 2026 Feb 26. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41748927 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Mainstreaming genomic testing for mitochondrial disease in Australia. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Ball+M%22">Ball M</searchLink>; Murdoch Children's Research Institute, Melbourne, VIC, Australia. megan.ball@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia. megan.ball@mcri.edu.au.; Royal Children's Hospital, Melbourne, VIC, Australia. megan.ball@mcri.edu.au.<br /><searchLink fieldCode="AU" term="%22Baker+N%22">Baker N</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Lim+SC%22">Lim SC</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Casauria+S%22">Casauria S</searchLink>; Murdoch Children's Research Institute, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Lunke+S%22">Lunke S</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Pathology, University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Compton+AG%22">Compton AG</searchLink>; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Thorburn+DR%22">Thorburn DR</searchLink>; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Christodoulou+J%22">Christodoulou J</searchLink>; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Stark+Z%22">Stark Z</searchLink>; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia. zornitza.stark@vcgs.org.au.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia. zornitza.stark@vcgs.org.au. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 658-666. <i>Date of Electronic Publication: </i>2026 Feb 26. – 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="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41748927 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s41431-026-02053-6 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 658 Titles: – TitleFull: Mainstreaming genomic testing for mitochondrial disease in Australia. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ball M – PersonEntity: Name: NameFull: Baker N – PersonEntity: Name: NameFull: Lim SC – PersonEntity: Name: NameFull: Casauria S – PersonEntity: Name: NameFull: Lunke S – PersonEntity: Name: NameFull: Compton AG – PersonEntity: Name: NameFull: Thorburn DR – PersonEntity: Name: NameFull: Christodoulou J – PersonEntity: Name: NameFull: Stark Z IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: 2026 May Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1476-5438 Numbering: – Type: volume Value: 34 – Type: issue Value: 5 Titles: – TitleFull: European journal of human genetics : EJHG Type: main |
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