Tania Smertenko

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 · 361 citations · Full text

Exome sequencing in undiagnosed inherited and sporadic ataxias

Angela Pyle, Tania Smertenko, David Bargiela et al. · Brain · 2014 · 138 citations · Full text

Mendelian Disorder, Genetic Disorder, Exome Sequencing +14

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans

Angela Pyle, Gavin Hudson, Ian Wilson et al. · PLoS Genetics · 2015 · 73 citations · Full text

Genetic Testing, Dna, Genetics +23

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

Angela Pyle, Venkateswaran Ramesh, Marina Bartsakoulia et al. · Journal of Neuromuscular Diseases · 2014 · 29 citations · Full text

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia

Michael J. Keogh, Hannah E. Steele, Konstantinos Douroudis et al. · Journal of Neurology · 2015 · 20 citations · Full text

Mendelian Disorder, Ataxia Genes, Neurological Disorder +13