Blakely, Emma L.

Top Publications

Top Publications Authored or Co-Authored by "Blakely, Emma L."

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

  Human Mutation, Volume 32, No. 11, Year 2011, Citations 157
• Urine heteroplasmy is the best predictor of clinical outcome in the m.3243a>g MTDNA mutation

  Neurology, Volume 72, No. 6, Year 2009, Citations 94
• MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

  EBioMedicine, Volume 30, Year 2018, Citations 47
• Pathogenic mitochondrial tRNA mutations - Which mutations are inherited and why?

  Human Mutation, Volume 30, No. 11, Year 2009, Citations 43
• RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

  Journal of Clinical Investigation, Volume 132, No. 13, Article e145660, Year 2022, Citations 24