Charlotte L. Alston

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

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

Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function

Brendan J. Floyd, Emily Wilkerson, Mike T. Veling et al. · Molecular Cell · 2016 · 288 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +12

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

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17