Horga, A, Woodward, CE, Mills, A, Pareés, I, Hargreaves, IP, Brown, RM, Bugiardini, E, Brooks, T, Manole, A, Remzova, E, Rahman, S, Reilly, MM, Houlden, H, Sweeney, MG, Brown, GK, Polke, JM, Gago, F, Parton, MJ, Pitceathly, RDS and Hanna, MG (2019) Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair. Human Genetics, 138 (11-12). pp. 1313-1322. ISSN 0340-6717

Lax, NZ, Alston, CL, Schon, K, Park, S-M, Krishnakumar, D, He, L, Falkous, G, Ogilvy-Stuart, A, Lees, C, King, RH, Hargreaves, IP, Brown, GK, McFarland, R, Dean, AF and Taylor, RW (2015) Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. Journal of Neuropathology and Experimental Neurology, 74 (7). pp. 688-703. ISSN 0022-3069

Ferdinandusse, S, Waterham, HR, Heales, SJR, Brown, GK, Hargreaves, IP, Taanman, J-W, Gunny, R, Abulhoul, L, Wanders, RJA, Clayton, PT, Leonard, JV and Rahman, S (2013) HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. Orphanet Journal of Rare Diseases, 188. ISSN 1750-1172