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 · 943 citations · Full text

Life Sciences, Genetics, Neurology +13

Prevalence of mitochondrial DNA disease in adults

Andrew M. Schaefer, Robert McFarland, Emma L. Blakely et al. · Annals of Neurology · 2007 · 582 citations

Life Sciences, Genetics, Neurology +8

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 · 421 citations · Full text

Life Sciences, Genetics, Ophthalmology +17

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 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

mtDNA 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 · 288 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17