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 220 publications
Publications 21-30 of 220
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Wei, W., Pagnamenta, A., Gleadall, N., Sanchis-Juan, A., Stephens, J., Broxholme, J., et al.
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
Sims, M., Mayer, L., Collins, J., Bariana, T., Megy, K., Lavenu-Bombled, C., et al.
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes
Ormondroyd, E., Harper, A., Thomson, K., Mackley, M., Martin, J., Penkett, C., et al.
European journal of human genetics: EJHG
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Thaventhiran, J., Lango Allen, H., Burren, O., Rae, W., Greene, D., Staples, E., et al.
Point of Care Nucleic Acid Testing for SARS-CoV-2 in Hospitalized Patients: A Clinical Validation Trial and Implementation Study
Collier, D., Assennato, S., Warne, B., Sithole, N., Sharrocks, K., Ritchie, A., et al.
Cell Reports. Medicine
A coagulation defect arising from heterozygous premature termination of tissue factor
Schulman, S., El-Darzi, E., Florido, M., Friesen, M., Merrill-Skoloff, G., Brake, M., et al.
The Journal of Clinical Investigation
A new pedigree with thrombomodulin-associated coagulopathy in which delayed fibrinolysis is partially attenuated by co-inherited TAFI deficiency
Westbury, S., Whyte, C., Stephens, J., Downes, K., Turro, E., Claesen, K., et al.
Journal of thrombosis and haemostasis: JTH
Whole-genome sequencing of patients with rare diseases in a national health system
Turro, E., Astle, W., Megy, K., Gräf, S., Greene, D., Shamardina, O., et al.
Effective control of SARS-CoV-2 transmission between healthcare workers during a period of diminished community prevalence of COVID-19
Jones, N., Rivett, L., Sparkes, D., Forrest, S., Sridhar, S., Young, J., et al.
Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing
Smith, P., Whitworth, J., West, H., Cook, J., Gardiner, C., Lim, D., et al.
Genes, Chromosomes & Cancer