Dr Wendy Gold

Senior Research Fellow
Sub-Dean (ECR)
Child & Adolescent Health, Children's Hospital, Westmead

Telephone +61 2 9845 1446

Website Honours in Medical Sciences at Wesmead

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Keywords

Genetics; Neurosciences; Mutation

Clinical Specialty

Paediatrics

Selected publications

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Journals

  • 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. [More Information]
  • 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. [More Information]
  • 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. [More Information]
  • Zhang, J., Barbaro, P., Guo, Y., Alodaib, A., Li, J., Gold, W., Ades, L., Keating, B., Xu, X., Teo, J., Christodoulou, J., et al (2016). Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders. Clinical Genetics, 89(2), 163-172. [More Information]
  • Gold, W., Lacina, T., Cantrill, L., Christodoulou, J. (2015). MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors. Journal of Molecular Medicine, 93(1), 63-72. [More Information]
  • Gold, W., Christodoulou, J. (2015). The utility of next-generation sequencing in gene discovery for mutation-negative patients with Rett syndrome. Frontiers in Cellular Neuroscience, 9, 1-6. [More Information]
  • Gold, W., Williamson, S., Kaur, S., Hargreaves, I., Land, J., Pelka, G., Tam, P., Christodoulou, J. (2014). Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): Implications for the disease phenotype. Mitochondrion, 15, 10-17. [More Information]
  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Wang, M., Carpenter, K., Lek, M., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(Pt 1), 44-56. [More Information]

2017

  • 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. [More Information]
  • 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. [More Information]
  • 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. [More Information]

2016

  • Zhang, J., Barbaro, P., Guo, Y., Alodaib, A., Li, J., Gold, W., Ades, L., Keating, B., Xu, X., Teo, J., Christodoulou, J., et al (2016). Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders. Clinical Genetics, 89(2), 163-172. [More Information]

2015

  • Gold, W., Lacina, T., Cantrill, L., Christodoulou, J. (2015). MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors. Journal of Molecular Medicine, 93(1), 63-72. [More Information]
  • Gold, W., Christodoulou, J. (2015). The utility of next-generation sequencing in gene discovery for mutation-negative patients with Rett syndrome. Frontiers in Cellular Neuroscience, 9, 1-6. [More Information]

2014

  • Gold, W., Williamson, S., Kaur, S., Hargreaves, I., Land, J., Pelka, G., Tam, P., Christodoulou, J. (2014). Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): Implications for the disease phenotype. Mitochondrion, 15, 10-17. [More Information]
  • Foley, A., Menezes, M., Pandraud, A., Gonzalez, M., Al-Odaib, A., Abrams, A., Sugano, K., Yonezawa, A., Manzur, A., Burns, J., Wang, M., Carpenter, K., Lek, M., Gold, W., Ouvrier, R., Christodoulou, J., et al (2014). Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain, 137(Pt 1), 44-56. [More Information]

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