Publications
NIHR BioResource staff, our partners and our collaborators work on a remarkable range of studies in human disease. Reviewed and refereed scientific publications are a vital part of our work: each year we are part of 30—40 published studies.
Showing the latest 190 publications
Publications 1-10 of 190
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Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants
Bury, L., Megy, K., Stephens, J., Grassi, L., Greene, D., Gleadall, N., et al.
Human Mutation
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FOXO in the hole: leveraging GWAS for outcome and function
Gregersen, P., Manjarrez-Orduño, N.
Cell
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Human SNP links differential outcomes in inflammatory and infectious disease to a FOXO3-regulated pathway
Lee, J., Espéli, M., Anderson, C., Linterman, M., Pocock, J., Williams, N., et al.
Cell
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Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder
Westbury, S., Downes, K., Burney, C., Lozano, M., Obaji, S., Toh, C., et al.
Blood Advances
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Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells
Morin, A., Kwan, T., Ge, B., Letourneau, L., Ban, M., Tandre, K., et al.
BMC medical genomics
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Creating genetic reports that are understood by nonspecialists: a case study
Recchia, G., Chiappi, A., Chandratillake, G., Raymond, L., Freeman, A.
Genetics in Medicine: Official Journal of the American College of Medical Genetics
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Reduced monocyte and macrophage TNFSF15/TL1A expression is associated with susceptibility to inflammatory bowel disease
Richard, A., Peters, J., Savinykh, N., Lee, J., Hawley, E., Meylan, F., et al.
PLoS genetics
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Reduced expression of IFIH1 is protective for type 1 diabetes
Downes, K., Pekalski, M., Angus, K., Hardy, M., Nutland, S., Smyth, D., et al.
PloS One
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Chromosome contacts in activated T cells identify autoimmune disease candidate genes
Burren, O., Rubio García, A., Javierre, B., Rainbow, D., Cairns, J., Cooper, N., et al.
Genome Biology
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Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses
Spencer, S., Köstel Bal, S., Egner, W., Lango Allen, H., Raza, S., Ma, C., et al.
The Journal of Experimental Medicine