List of works - Sarah E Calvo

A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation

scientific article published on 9 September 2016

A mitochondrial protein compendium elucidates complex I disease biology

scientific article

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant

article

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease ⬇️

scientific article published on January 6, 2012

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

scientific article published on 19 September 2017

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

scientific article published on August 2017

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

scientific article

CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets

scientific article

CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity

scientific article

Combinatorial GxGxE CRISPR screen identifies SLC25A39 in mitochondrial glutathione transport linking iron homeostasis to OXPHOS

scientific article published on 05 May 2022

Comparative Analysis of Mitochondrial N-Termini from Mouse, Human, and Yeast.

scientific article published on 25 January 2017

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

scientific article published on 25 August 2017

EMRE is an essential component of the mitochondrial calcium uniporter complex

scientific article

Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma

scientific article published on 18 June 2018

Evolutionary diversity of the mitochondrial calcium uniporter

scientific article published on May 2012

Expansion of biological pathways based on evolutionary inference

scientific article

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

scientific article

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

scientific article published on 28 May 2015

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

scientific article published on 09 July 2020

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

scientific article published on 03 April 2020

Genomic analysis of the basal lineage fungus Rhizopus oryzae reveals a whole-genome duplication

scientific article

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

scientific article

Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis

scientific article published on 25 April 2019

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

scientific article

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions

scientific article

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

scientific article published on 10 October 2013

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

scientific article

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

scientific article published on 11 November 2020

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

scientific article

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.

scientific article published on 6 September 2014

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

scientific article

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

scientific article

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

scientific article

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

scientific article

Sequencing of Aspergillus nidulans and comparative analysis with A. fumigatus and A. oryzae

scientific article

Targeted exome sequencing of suspected mitochondrial disorders

scientific article published on 17 April 2013

The Mitochondrial Proteome and Human Disease ⬇️

scientific article published on January 1, 2010

The molecular basis of human complex I deficiency.

scientific article published on 15 July 2011

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

scientific article

Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma

scientific article published on 01 August 2018

List of works by Sarah E Calvo

A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation

A mitochondrial protein compendium elucidates complex I disease biology

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease ⬇️

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets

CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity

Combinatorial GxGxE CRISPR screen identifies SLC25A39 in mitochondrial glutathione transport linking iron homeostasis to OXPHOS

Comparative Analysis of Mitochondrial N-Termini from Mouse, Human, and Yeast.

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

EMRE is an essential component of the mitochondrial calcium uniporter complex

Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma

Evolutionary diversity of the mitochondrial calcium uniporter

Expansion of biological pathways based on evolutionary inference

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

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

Genomic analysis of the basal lineage fungus Rhizopus oryzae reveals a whole-genome duplication

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis

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

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

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

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Sequencing of Aspergillus nidulans and comparative analysis with A. fumigatus and A. oryzae

Targeted exome sequencing of suspected mitochondrial disorders

The Mitochondrial Proteome and Human Disease ⬇️

The molecular basis of human complex I deficiency.

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

Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma