Browse by Author or Creator

2022

1. Bademci, G., Lachgar-Ruiz, M., Deokar, M., Zafeer, M. F., Abad, C., Baylan, M. Y., Ingham, N., Chen, J., Sineni, C., Vadgama, N., Karakikes, I., Guo, S., Duman, D., Singh, N., Harlalka, G., Chioza, B., Walz, K., Steel, K. P., Nasir, J. and Tekin, M. (2022) Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice. Proceedings of the National Academy of Sciences of the United States of America. 119(26) 0027-8424.
2. Vadgama, N., Kreymerman, A., Campbell, J., Shamardina, O., Brugger, C., Genomics England Research Consortium, Deaconescu, A., Lee, R. T., Penkett, C. J., Gifford, C. A., Mercola, M., Nasir, J. and Karakikes, I. (2022) SARS-CoV-2 susceptibility and ACE2 gene variations within diverse ethnic backgrounds. Frontiers in Genetics. 13 1664-8021.

2019

1. 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.
2. Jelani, M., Dooley, H. C., Gubas, A., Mohamoud, H. S. A., Masood Khan, M. T., Ali, Z., Kang, C., Rahim, F., Jan, A., Vadgama, N., Khan, M. I., Al-Aama, J. Y., Khan, A., Tooze, S. A. and Nasir, J. (2019) A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities. Brain. 142(5), pp. 1242-1254. 0006-8950.
3. 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. 0300-8177.

2018

1. 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.