Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
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| Title: | Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases. |
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| Authors: | Hock, Daniella H.1,2,3 (AUTHOR) daniella.hock@unimelb.edu.au, Caruana, Nikeisha J.1,4 (AUTHOR), Semcesen, Liana N.1 (AUTHOR), Lake, Nicole J.5 (AUTHOR), Formosa, Luke E.6 (AUTHOR), Amarasekera, Sumudu S. C.2 (AUTHOR), Stait, Tegan2 (AUTHOR), Tregoning, Simone2 (AUTHOR), Frajman, Leah E.2 (AUTHOR), Bournazos, Adam M.7,8,9 (AUTHOR), Robinson, David R. L.1 (AUTHOR), Ball, Megan2,10,11 (AUTHOR), Reljic, Boris1,6 (AUTHOR), Ryder, Bryony12 (AUTHOR), Wallis, Mathew J.13,14 (AUTHOR), Vasudevan, Anand15 (AUTHOR), Beck, Cara3 (AUTHOR), Peters, Heidi10,11 (AUTHOR), Lee, Joy3,11 (AUTHOR), Tan, Natalie B.2,3,10 (AUTHOR) |
| Source: | Genome Medicine. 5/22/2025, p1-24. 24p. |
| Database: | Academic Search Ultimate |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 185303958 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=185303958 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13073-025-01467-z Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 24 StartPage: 1 Titles: – TitleFull: Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Hock, Daniella H. – PersonEntity: Name: NameFull: Caruana, Nikeisha J. – PersonEntity: Name: NameFull: Semcesen, Liana N. – PersonEntity: Name: NameFull: Lake, Nicole J. – PersonEntity: Name: NameFull: Formosa, Luke E. – PersonEntity: Name: NameFull: Amarasekera, Sumudu S. C. – PersonEntity: Name: NameFull: Stait, Tegan – PersonEntity: Name: NameFull: Tregoning, Simone – PersonEntity: Name: NameFull: Frajman, Leah E. – PersonEntity: Name: NameFull: Bournazos, Adam M. – PersonEntity: Name: NameFull: Robinson, David R. L. – PersonEntity: Name: NameFull: Ball, Megan – PersonEntity: Name: NameFull: Reljic, Boris – PersonEntity: Name: NameFull: Ryder, Bryony – PersonEntity: Name: NameFull: Wallis, Mathew J. – PersonEntity: Name: NameFull: Vasudevan, Anand – PersonEntity: Name: NameFull: Beck, Cara – PersonEntity: Name: NameFull: Peters, Heidi – PersonEntity: Name: NameFull: Lee, Joy – PersonEntity: Name: NameFull: Tan, Natalie B. IsPartOfRelationships: – BibEntity: Dates: – D: 22 M: 05 Text: 5/22/2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 1756994X Titles: – TitleFull: Genome Medicine Type: main |
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