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Number of items: 6.
Article
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.