Lisa G. Riley

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

Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Sze Chern Lim, Martin Friemel, Justine E. Marum et al. · Human Molecular Genetics · 2013 · 136 citations · Full text

A <i>SLC39A8</i> variant causes manganese deficiency, and glycosylation and mitochondrial disorders

Lisa G. Riley, Mark J. Cowley, Velimir Gayevskiy et al. · Journal of Inherited Metabolic Disease · 2016 · 115 citations

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Gali Heimer, Juha M. Kerätär, Lisa G. Riley et al. · The American Journal of Human Genetics · 2016 · 101 citations · Full text

Mitochondrial Myopathy, Neurodegenerative Diseases, Mendelian Disorder +10

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 99 citations

Medicine, Genetics, Rna Splicing +11