Pyle, Angela

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Boczonadi, V., Müller, J. S., Pyle, A., Munkley, J., Dor, T., Quartararo, J., Ferrero, I., Karcagi, V., Giunta, M., Polvikoski, T., et al. (2014) · Nature Communications

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 149

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

Pyle, A., Hudson, G., Wilson, I. J., Coxhead, J., Smertenko, T., Herbert, M., Santibanez-Koref, M., & Chinnery, P. F. (2015) · PLOS Genetics

Forensic and Genetic ResearchMitochondrial Function and Pathology

Cited by 77

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

Bartsakoulia, M., Pyle, A., Troncoso-Chandía, D., Vial-Brizzi, J., Paz-Fiblas, M. V., Duff, J., Griffin, H., Boczonadi, V., Lochmüller, H., Kleinle, S., et al. (2018) · Human Molecular Genetics

Mitochondrial Function and PathologyMuscle Physiology and Disorders

Cited by 68

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease

Peter, B., Waddington, C. L., Oláhová, M., Sommerville, E. W., Hopton, S., Pyle, A., Champion, M., Ohlson, M., Siibak, T., Chrzanowska-Lightowlers, Z. M. A., et al. (2018) · Human Molecular Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 66

Post-mortem ventricular cerebrospinal fluid cell-free-mtDNA in neurodegenerative disease

Lowes, H., Kurzawa-Akanbi, M., Pyle, A., & Hudson, G. (2020) · Scientific Reports

Parkinson's Disease Mechanisms and TreatmentsMitochondrial Function and Pathology

Cited by 21