Alison G. Compton

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Sarah E. Calvo, Alison G. Compton, Steven G. Hershman et al. · Science Translational Medicine · 2012 · 471 citations

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Sarah E. Calvo, Elena J. Tucker, Alison G. Compton et al. · Nature Genetics · 2010 · 359 citations · Full text

Identifies Mutations, Human Complex, Sequencing +11

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

Lisa G. Riley, Sandra T. Cooper, Peter F. Hickey et al. · The American Journal of Human Genetics · 2010 · 233 citations · Full text

Mitochondrial Myopathy, Lactic Acidosis, Causes Myopathy +10

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Peter R. Baker, Marisa W. Friederich, Michael A. Swanson et al. · Brain · 2013 · 219 citations · Full text

Genetics, Pathology, Molecular Genetics +18

Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

Elena J. Tucker, Steven G. Hershman, Caroline Köhrer et al. · Cell Metabolism · 2011 · 162 citations · Full text

Mendelian Disorder, Mitochondrial Biogenesis, Mitochondrial Function +7