Additional file 2 of Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases

Additional file 2. Detailed clinical history of VC15 (UQCRC2) and VC24 (FARS2), Figure S1. Heatmaps and hierarchical clustering of the validation cohort (VC), Figure S2. Protein correlation between cell lines in the validation cohort (VC) and knockout cohort (KC), Figure S3. Mitochondrial abundance, citrate synthase abundance and activity, Figure S4. Relative Complex Abundance (RCA) of OXPHOS complexes in the validation cohort (VC), Figure S5. Orthogonal testing and analysis of undiagnosed cohort and supporting cohort samples.

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Publication Details

Journal
Figshare
Published
2025-01-01
DOI
https://doi.org/10.6084/m9.figshare.29124410.v1
Primary Topic
Mitochondrial Function and Pathology
Type
article
Field-Weighted Citation Impact
0.00
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article

Additional file 2 of Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases

Figshare
Mitochondrial Function and Pathology
article

Additional file 2 of Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases

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Abstract

Additional file 2. Detailed clinical history of VC15 (UQCRC2) and VC24 (FARS2), Figure S1. Heatmaps and hierarchical clustering of the validation cohort (VC), Figure S2. Protein correlation between cell lines in the validation cohort (VC) and knockout cohort (KC), Figure S3. Mitochondrial abundance, citrate synthase abundance and activity, Figure S4. Relative Complex Abundance (RCA) of OXPHOS complexes in the validation cohort (VC), Figure S5. Orthogonal testing and analysis of undiagnosed cohort and supporting cohort samples.

Figshare
The University of Sydney (AU), Royal Children's Hospital (AU), Royal Women's Hospital (AU), Children's Medical Research Institute (AU), The University of Melbourne (AU), Baylor College of Medicine (US), Australian Regenerative Medicine Institute (AU), Newcastle upon Tyne Hospitals NHS Foundation Trust (GB), Children's Hospital at Westmead (AU), Canberra Hospital (AU), Yale University (US), Sydney Children's Hospital (AU), Victoria School of Management (CH), Murdoch Children's Research Institute (AU), Baylor Genetics (US), Monash University (AU), Newcastle University (GB)
Openalex Percentile: Top 61%
Mitochondrial Function and Pathology
DOISourceOpenAlex
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Additional file 2 of Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases · Figshare (2025) | TGRS Research Map | TGRS