John W. Yarham

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Robert W. Taylor, Angela Pyle, Helen Griffin et al. · JAMA · 2014 · 361 citations · Full text

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations

John W. Yarham, Mazhor Aldosary, Emma L. Blakely et al. · Human Mutation · 2011 · 179 citations

Genetics, Genetic Epidemiology, Molecular Biology +24

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

Penelope E. Bonnen, John W. Yarham, Arnaud Besse et al. · The American Journal of Human Genetics · 2013 · 174 citations · Full text

Mitochondrial Dna Maintenance, Mitophagy, Mitochondrial Function +14

Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA

John W. Yarham, Tek N. Lamichhane, Angela Pyle et al. · PLoS Genetics · 2014 · 134 citations · Full text

Systems Biology, Mitochondrial Biogenesis, Mitochondrial Function +15

<i>LRPPRC</i>mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Monika Oláhová, Steven Hardy, Julie Hall et al. · Brain · 2015 · 105 citations · Full text