Key Publications

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

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

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

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

Nafisinia, M., Guo, Y., Dang, X., Li, J., Chen, Y., Zhang, J., Lake, N., Gold, W., Riley, L., Thornburn, D., Christodoulou, J., et al (2017). Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. JIMD Reports, 32, 117-124.

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