Research Profile

2019

• Vadgama, N., Pittman, A., Simpson, M., Nirmalananthan, N., Murray, R., Yoshikawa, T., De Rijk, P., Rees, E., Kirov, G., Hughes, D., Fitzgerald, T., Kristiansen, M., Pearce, K., Cerveira, E., Zhu, Q., Zhang, C., Lee, C., Hardy, J. and Nasir, J. (2019) De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes. European journal of human genetics : EJHG. 27, pp. 1121-1133. 1018-4813.
• Vadgama, N., Lamont, D., Hardy, J., Nasir, J. and Lovering, R. C. (2019) Distinct proteomic profiles in monozygotic twins discordant for ischaemic stroke. Molecular and Cellular Biochemistry. 456(1-2), pp. 157-165.

2018

• Mohamoud, H. S., Ahmed, S., Jelani, M., Alrayes, N., Childs, K., Vadgama, N., Almramhi, M. M., Al-Aama, J. Y., Goodbourn, S. and Nasir, J. (2018) A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features. Scientific Reports. 8(1) 2045-2322.