Calvo, Sarah E.

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

Pagliarini, D. J., Calvo, S. E., Chang, B., Sheth, S. A., Vafai, S. B., Ong, S.-E., Walford, G. A., Sugiana, C., Boneh, A., Chen, W. K., et al. (2008) · Cell

Mitochondrial Function and PathologyAdvanced Proteomics Techniques and Applications

Cited by 1,994

MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations

Rath, S., Sharma, R., Gupta, R., Ast, T., Chan, C., Durham, T. J., Goodman, R. P., Grabarek, Z., Haas, M. E., Hung, W. H. W., et al. (2021) · Nucleic Acids Research

Bioinformatics and Genomic NetworksMitochondrial Function and Pathology

Cited by 1,888

A genomic mutational constraint map using variation in 76,156 human genomes

Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., et al. (2024) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,727

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

Calvo, S. E., Clauser, K. R., & Mootha, V. K. (2016) · Nucleic Acids Research

Bioinformatics and Genomic NetworksMitochondrial Function and Pathology

Cited by 1,251

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

Calvo, S. E., Pagliarini, D. J., & Mootha, V. K. (2009) · Proceedings of the National Academy of Sciences

RNA and protein synthesis mechanismsRNA Research and Splicing

Cited by 914

The Mitochondrial Proteome and Human Disease

Calvo, S. E., & Mootha, V. K. (2010) · Annual Review of Genomics and Human Genetics

Mitochondrial Function and PathologyAdvanced Proteomics Techniques and Applications

Cited by 590

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Spinazzola, A., Viscomi, C., Fernandez-Vizarra, E., Carrara, F., D'Adamo, P., Calvo, S., Marsano, R. M., Donnini, C., Weiher, H., Strisciuglio, P., et al. (2006) · Nature Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 427

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Kornblum, C., Nicholls, T. J., Haack, T. B., Schöler, S., Peeva, V., Danhauser, K., Hallmann, K., Zsurka, G., Rorbach, J., Iuso, A., et al. (2013) · Nature Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 232

Genetic Screen for Cell Fitness in High or Low Oxygen Highlights Mitochondrial and Lipid Metabolism

Jain, I. H., Calvo, S. E., Markhard, A. L., Skinner, O. S., To, T.-L., Ast, T., & Mootha, V. K. (2020) · Cell

Cancer, Hypoxia, and MetabolismRedox biology and oxidative stress

Cited by 224

Comparative RNA editing in autistic and neurotypical cerebella

Eran, A., Li, J. B., Vatalaro, K., McCarthy, J., Rahimov, F., Collins, C., Markianos, K., Margulies, D. M., Brown, E. N., Calvo, S. E., et al. (2013) · Molecular Psychiatry

RNA regulation and diseaseGenetics and Neurodevelopmental Disorders

Cited by 70