Shanti Balasubramaniam

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

Magnus Bjursell, Henk J. Blom, Jordi Asin Cayuela et al. · The American Journal of Human Genetics · 2011 · 133 citations · Full text

Hepatology, Methionine Cycle, Medicine +9

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

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

Lisa G. Riley, Mark J. Cowley, Velimir Gayevskiy et al. · Genetics in Medicine · 2020 · 94 citations · Full text