Browse by Author or Creator

2022

• 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.

2021

• Lawson, J., Cabili, M. N., Kerry, G., Boughtwood, T. F., Thorogood, A., Alper, P., Bowers, S. R., Boyles, R., Brookes, A. J., Brush, M. H., Burdett, T., Clissold, H. L., Donnelly, S., Dyke, S. O.M., Freeberg, M. A., Haendel, M. A., Hata, C., Holub, P., Jeanson, F., Jené, A., Kawashima, M., Kawashima, S., Konopko, M. A., Kyomugisha, I., Li, H., Linden, M., Rodriguez, L. L., Morita, M., Mulder, N., Muller, J., Nagaie, S., Nasir, J., Ogishima, S., Ota Wang, V., Paglione, L. A.D., Pandya, R. N., Parkinson, H. E., Philippakis, A. A., Prasser, F., Rambla, J., Reinold, K., Rushton, G. A., Saltzman, A., Saunders, G. I., Sofia, H. J., Spalding, J. D., Swertz, M. A., Tulchinsky, I., van Enckevort, E. J., Varma, S., Voisin, C., Yamamoto, N., Yamasaki, C., Zass, L. J., Guidry Auvil, J. M., Nyrönen, T. H. and Courtot, M. (2021) The Data Use Ontology to streamline responsible access to human biomedical datasets. Cell Genomics. 1(2), None. 2666-979X.
• Rehm, H. L., Page, A. J.H., Smith, L., Adams, J. B., Alterovitz, G., Babb, L. J., Barkley, M. P., Baudis, M., Beauvais, M. J.S., Beck, T., Beckmann, J. S., Beltran, S., Bernick, D., Bernier, A., Bonfield, J. K., Boughtwood, T. F., Bourque, G., Bowers, S. R., Brookes, A. J., Brudno, M., Brush, M. H., Bujold, D., Burdett, T., Buske, O. J., Cabili, M. N., Cameron, D. L., Carroll, R. J., Casas-Silva, E., Chakravarty, D., Chaudhari, B. P., Chen, S. H., Cherry, J. M., Chung, J., Cline, M., Clissold, H. L., Cook-Deegan, R. M., Courtot, M., Cunningham, F., Cupak, M., Davies, R. M., Denisko, D., Doerr, M. J., Dolman, L. I., Dove, E. S., Dursi, L. J., Dyke, S. O.M., Eddy, J. A., Eilbeck, K., Ellrott, K. P., Fairley, S., Fakhro, K. A., Firth, H. V., Fitzsimons, M. S., Fiume, M., Flicek, P., Fore, I. M., Freeberg, M. A., Freimuth, R. R., Fromont, L. A., Fuerth, J., Gaff, C. L., Gan, W., Ghanaim, E. M., Glazer, D., Green, R. C., Griffith, M., Griffith, O. L., Grossman, R. L., Groza, T., Guidry Auvil, J. M., Guigó, R., Gupta, D., Haendel, M. A., Hamosh, A., Hansen, D. P., Hart, R. K., Hartley, D. M., Haussler, D., Hendricks-Sturrup, R. M., Ho, C. W.L., Hobb, A. E., Hoffman, M. M., Hofmann, O. M., Holub, P., Hsu, J. S., Hubaux, J.-P., Hunt, S. E., Husami, A., Jacobsen, J. O., Jamuar, S. S., Janes, E. L., Jeanson, F., Jené, A., Johns, A. L., Joly, Y., Jones, S. J.M., Kanitz, A., Kato, K., Keane, T. M., Kekesi-Lafrance, K., Kelleher, J., Kerry, G., Khor, S.-S., Knoppers, B. M., Konopko, M. A., Kosaki, K., Kuba, M., Lawson, J., Leinonen, R., Li, S., Lin, M. F., Linden, M., Liu, X., Liyanage, I. U., Lopez, J., Lucassen, A. M., Lukowski, M., Mann, A. L., Marshall, J., Mattioni, M., Metke-Jimenez, A., Middleton, A., Milne, R. J., Molnár-Gábor, F., Mulder, N., Munoz-Torres, M. C., Nag, R., Nakagawa, H., Nasir, J., Navarro, A., Nelson, T. H., Niewielska, A., Nisselle, A., Niu, J., Nyrönen, T. H., O’Connor, B. D., Oesterle, S., Ogishima, S., Ota Wang, V., Paglione, L. A.D., Palumbo, E., Parkinson, H. E., Philippakis, A. A., Pizarro, A. D., Prlic, A., Rambla, J., Rendon, A., Rider, R. A., Robinson, P. N., Rodarmer, K. W., Rodriguez, L. L., Rubin, A. F., Rueda, M., Rushton, G. A., Ryan, R. S., Saunders, G. I., Schuilenburg, H., Schwede, T., Scollen, S., Senf, A., Sheffield, N. C., Skantharajah, N., Smith, A. V., Sofia, H. J., Spalding, D., Spurdle, A. B., Stark, Z., Stein, L. D., Suematsu, M., Tan, P., Tedds, J. A., Thomson, A. A., Thorogood, A., Tickle, T. L., Tokunaga, K., Törnroos, J., Torrents, D., Upchurch, S., Valencia, A., Guimera, R. V., Vamathevan, J., Varma, S., Vears, D. F., Viner, C., Voisin, C., Wagner, A. H., Wallace, S. E., Walsh, B. P., Williams, M. S., Winkler, E. C., Wold, B. J., Wood, G. M., Woolley, J. P., Yamasaki, C., Yates, A. D., Yung, C. K., Zass, L. J., Zaytseva, K., Zhang, J., Goodhand, P., North, K. and Birney, E. (2021) GA4GH: International policies and standards for data sharing across genomic research and healthcare. Cell Genomics. 1(2) 2666-979X.
• Ganna, A. and Nasir, J. (2021) Mapping the human genetic architecture of COVID-19 by worldwide meta-analysis. Nature. 600(7889), pp. 472-477. 0028-0836.
• Tariq, M., Latif, M., Inam, M., Jan, A., Bibi, N., Mohamoud, H. S. A., Ali, I., Ahmad, H., Khan, A., Nasir, J., Wadood, A. and Jelani, M. (2021) Whole exome sequencing reveals a homozygous SGCB variant in a Pakhtun family with limb girdle muscular dystrophy (LGMDR4) phenotype. Gene Reports. 22 2452-0144.

2020

• Nasir, J. (2020) The COVID-19 Host Genetics Initiative, a global initiative to elucidate the role of host genetic factors in susceptibility and severity of the SARS-CoV-2 virus pandemic. European journal of human genetics : EJHG. 28, pp. 715-718. 1018-4813.

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.
• 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.

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.

2017

• Nasir, J., Goldie, J., Little, A., Banerjee, D. and Reeves, S. (2017) Case-based interprofessional learning for undergraduate healthcare professionals in the clinical setting. Journal of Interprofessional Care. 31(1), pp. 125-128. 1469-9567.

2014

• Hussain, M. R. M., Nasir, J. and Al-Aama, J. Y. (2014) Clinically significant missense variants in human GALNT3, GALNT8, GALNT12, and GALNT13 genes: Intriguing in silico findings. Journal of Cellular Biochemistry. 115(2), pp. 313-327. 1097-4644.