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Works (6)

Mitochondrial genome copy number variation across tissues in mice and humans

Proceedings of the National Academy of Sciences
2024-08-13 | Journal article
DOI: 10.1073/pnas.2402291121
Contributors: Sneha P. Rath; Rahul Gupta; Ellen Todres; Hong Wang; Alexis A. Jourdain; Kristin G. Ardlie; Sarah E. Calvo; Vamsi K. Mootha
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Nuclear genetic control of mtDNA copy number and heteroplasmy in humans

2023-01-19 | Preprint
DOI: 10.1101/2023.01.19.23284696
Contributors: Rahul Gupta; Masahiro Kanai; Timothy J. Durham; Kristin Tsuo; Jason G. McCoy; Patrick F. Chinnery; Konrad J. Karczewski; Sarah E. Calvo; Benjamin M. Neale; Vamsi K. Mootha
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Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS

Molecular Cell
2021-05 | Journal article
DOI: 10.1016/j.molcel.2021.02.033
Contributors: Alexis A. Jourdain; Bridget E. Begg; Eran Mick; Hardik Shah; Sarah E. Calvo; Owen S. Skinner; Rohit Sharma; Steven M. Blue; Gene W. Yeo; Christopher B. Burge et al.
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A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant

Human Mutation
2019-07-13 | Journal article
DOI: 10.1002/humu.23753
Contributors: Nicole J. Lake; Luke E. Formosa; David A. Stroud; Michael T. Ryan; Sarah E. Calvo; Vamsi K. Mootha; Bharti Morar; Peter G Procopis; John Christodoulou; Alison G. Compton et al.
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CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets

PLOS Computational Biology
2017-07-18 | Journal article
DOI: 10.1371/journal.pcbi.1005653
Contributors: Yang Li; Patrick Cahan; Alexis A. Jourdain; Sarah E. Calvo; Jun S. Liu; Vamsi K. Mootha
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Comparative Analysis of Mitochondrial N-Termini from Mouse, Human, and Yeast

Molecular & Cellular Proteomics
2017-04 | Journal article
DOI: 10.1074/mcp.M116.063818
Contributors: Sarah E. Calvo; Olivier Julien; Karl R. Clauser; Hongying Shen; Kimberli J. Kamer; James A. Wells; Vamsi K. Mootha
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Peer review (2 reviews for 2 publications/grants)

Review activity for Genetics in medicine. (1)
Review activity for Nature communications (1)
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