Key Publications

Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities.  Gold, W., Krishnarajy, R., Ellaway, C., Christodoulou, J. (2018).  ACS Chemical Neuroscience, 9(2), 167-176.

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. Gold, W., Sobreira, N., Wiame, E., Marbaix, A., Van Schaftingen, E., Franzka, P., Riley, L., Worgan, L., Hubner, C., Christodoulou, J., Ades, L. (2017).  American Journal of Medical Genetics, Part A, 173(8), 2246-2250.

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction. Nafisinia, M., Riley, L., Gold, W., Bhattacharya, K., Broderick, C., Thorburn, D., Simons, C., Christodoulou, J. (2017). PloS One, 12(6), 1-12.

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. Nafisinia, M., Sobreira, N., Riley, L., Gold, W., Uhlenberg, B., Weib, C., Boehm, C., Prelog, K., Ouvrier, R., Christodoulou, J. (2017). European Journal of Human Genetics, 25(10), 1134-1141.

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. Alodaib, A., Sobreira, N., Gold, W., Riley, L., Van Bergen, N., Wilson, M., Bennetts, B., Thorburn, D., Boehm, C., Christodoulou, J. (2017).  European Journal of Human Genetics, 25(1), 79-84.

MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors. Gold, W., Lacina, T., Cantrill, L., Christodoulou, J. (2015). Journal of Molecular Medicine, 93(1), 63-72

The utility of next-generation sequencing in gene discovery for mutation-negative patients with Rett syndrome. Gold, W., Christodoulou, J. (2015). Frontiers in Cellular Neuroscience, 9, 1-6.

Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): Implications for the disease phenotype. Gold, W., Williamson, S., Kaur, S., Hargreaves, I., Land, J., Pelka, G., Tam, P., Christodoulou, J. (2014).  Mitochondrion, 15, 10-17.