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Author Details

Sarah E Calvo
2002
58
40
PMIDPaper TitleJournal TitlePublished Year
37262067Effectors Enabling Adaptation to Mitochondrial Complex I Loss in Hürthle Cell Carcinoma.Cancer Discov2023
37587338Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.Nature2023
36711677Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.medRxiv2023
37133451Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.Hum Mol Genet2023
35074858Mitochondrial DNA variation across 56,434 individuals in gnomAD.Genome Res2022
35513392Combinatorial GxGxE CRISPR screen identifies SLC25A39 in mitochondrial glutathione transport linking iron homeostasis to OXPHOS.Nat Commun2022
33174596MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations.Nucleic Acids Res2021
33852893Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS.Mol Cell2021
33575671Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus.Med2021
32259488Genetic Screen for Cell Fitness in High or Low Oxygen Highlights Mitochondrial and Lipid Metabolism.Cell2020
30981218A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.Hum Mutat2019
29514978Spatiotemporal compartmentalization of hepatic NADH and NADPH metabolism.J Biol Chem2018
30107175Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma.Cancer Cell2018
29915188GeNets: a unified web platform for network-based genomic analyses.Nat Methods2018
29915083Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.Proc Natl Acad Sci U S A2018
29625026Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.Am J Hum Genet2018
28122942Comparative Analysis of Mitochondrial N-Termini from Mouse, Human, and Yeast.Mol Cell Proteomics2017
28942965Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.Am J Hum Genet2017
28719601CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets.PLoS Comput Biol2017
28973171Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.Hum Mol Genet2017
28777931Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.Am J Hum Genet2017
27667664A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation.Cell Metab2016
26450961MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins.Nucleic Acids Res2016
25193783Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.Neurogenetics2015
26022995FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.Hum Mol Genet2015
24602372Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.BMC Med Genet2014
24334609CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity.Hum Mol Genet2014
24995987Expansion of biological pathways based on evolutionary inference.Cell2014
23313956Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.Nat Genet2013
22869036Comparative RNA editing in autistic and neurotypical cerebella.Mol Psychiatry2013
24119684Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.Am J Hum Genet2013
23836383Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.JAMA Neurol2013
24231807EMRE is an essential component of the mitochondrial calcium uniporter complex.Science2013
23596069Targeted exome sequencing of suspected mitochondrial disorders.Neurology2013
22226368Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.BMC Med Genet2012
22964873MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions.Arch Neurol2012
22277967Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.Sci Transl Med2012
22605770Evolutionary diversity of the mitochondrial calcium uniporter.Science2012
23043144Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.Brain2012
21907147Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.Cell Metab2011
21766414The molecular basis of human complex I deficiency.IUBMB Life2011
20858599FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.Hum Mol Genet2010
20690818The mitochondrial proteome and human disease.Annu Rev Genomics Hum Genet2010
20818383High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.Nat Genet2010
19372376Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.Proc Natl Acad Sci U S A2009
19578406Genomic analysis of the basal lineage fungus Rhizopus oryzae reveals a whole-genome duplication.PLoS Genet2009
18614015A mitochondrial protein compendium elucidates complex I disease biology.Cell2008
18940309Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.Am J Hum Genet2008
17823352The Fusarium graminearum genome reveals a link between localized polymorphism and pathogen specialization.Science2007
16582907Systematic identification of human mitochondrial disease genes through integrative genomics.Nat Genet2006
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