Emma L. Blakely

Prevalence of nuclear and mitochondrial <scp>DNA</scp> mutations related to adult mitochondrial disease

Gráinne S. Gorman, Andrew M. Schaefer, Yi Shiau Ng et al. · Annals of Neurology · 2015 · 915 citations · Full text

Prevalence of mitochondrial DNA disease in adults

Andrew M. Schaefer, Robert McFarland, Emma L. Blakely et al. · Annals of Neurology · 2007 · 578 citations

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance

Gavin Hudson, Patrizia Amati‐Bonneau, Emma L. Blakely et al. · Brain · 2007 · 416 citations · Full text

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

mt <scp>DNA</scp> heteroplasmy level and copy number indicate disease burden in m.3243A&gt;G mitochondrial disease

John P. Grady, Sarah J. Pickett, Yi Shiau Ng et al. · EMBO Molecular Medicine · 2018 · 277 citations · Full text