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 216 publications
Publications 11-20 of 216
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Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees
Sprenkeler, E., Tool, A., Kreft, I., van Alphen, F., Seneviratne, S., et al.
British Journal of Haematology
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Combined Point-of-Care Nucleic Acid and Antibody Testing for SARS-CoV-2 following Emergence of D614G Spike Variant
Mlcochova, P., Collier, D., Ritchie, A., Assennato, S., Hosmillo, M., Goel, N., et al.
Cell Reports. Medicine
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The Polygenic and Monogenic Basis of Blood Traits and Diseases
Vuckovic, D., Bao, E., Akbari, P., Lareau, C., Mousas, A., Jiang, T., et al.
Cell
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Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans
Cytlak, U., Resteu, A., Pagan, S., Green, K., Milne, P., Maisuria, S., et al.
Immunity
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Development and validation of a universal blood donor genotyping platform: a multinational prospective study
Gleadall, N., Veldhuisen, B., Gollub, J., Butterworth, A., Ord, J., Penkett, C., et al.
Blood Advances
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A thermostable, closed SARS-CoV-2 spike protein trimer
Xiong, X., Qu, K., Ciazynska, K., Hosmillo, M., Carter, A., Ebrahimi, S., et al.
Nature Structural & Molecular Biology
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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.
Nature Communications
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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.
Blood
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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
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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.
Nature