Charlotte V. Y. Knowles

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

J. Polke, C. Woodward, C. Alston, 2022, European Journal of Human Genetics.

De novo mtDNA point mutations are common and have a low recurrence risk

Robert W. Taylor, H. Smeets, C. D. de Die-Smulders, 2016, Journal of Medical Genetics.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Robert W. Taylor, D. Fisk, R. Weintraub, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

Robert W. Taylor, W. Chung, D. Fisk, 2021, Genetics in Medicine.

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

Robert W. Taylor, D. Turnbull, H. Prokisch, 2017, JAMA neurology.

Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls

Robert W. Taylor, W. Kunz, G. Falkous, 2017, Neurology: Genetics.

Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome

Robert W. Taylor, J. Elson, F. H. van der Westhuizen, 2017, BMC Medical Genetics.