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 221 publications
Publications 31-40 of 221
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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
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Screening of healthcare workers for SARS-CoV-2 highlights the role of asymptomatic carriage in COVID-19 transmission
Rivett, L., Sridhar, S., Sparkes, D., Routledge, M., Jones, N., Forrest, S., et al.
eLife
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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
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Whole Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome
Rhodes, C., Otero-Núñez, P., Wharton, J., Swietlik, E., Kariotis, S., Harbaum, L., et al.
American Journal of Respiratory and Critical Care Medicine
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Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate
Sanchis-Juan, A., Hasenahuer, M., Baker, J., McTague, A., Barwick, K., Kurian, M., et al.
Molecular Genetics & Genomic Medicine
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ADA2 deficiency complicated by EBV-driven lymphoproliferative disease
Staples, E., Simeoni, I., Stephens, J., Allen, H., Wright, P., et al.
Clinical Immunology (Orlando, Fla.)
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Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function
Chan, M., Hayman, M., Sivapalaratnam, S., Crescente, M., Allan, H., Edin, M., et al.
Haematologica
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Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
Lorenzini, T., Fliegauf, M., Klammer, N., Frede, N., Proietti, M., Bulashevska, A., et al.
The Journal of Allergy and Clinical Immunology
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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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Working Towards a Blood-Derived Gene Expression Biomarker Specific for Alzheimer's Disease
Patel, H., Iniesta, R., Stahl, D., Dobson, R., Newhouse, S.
Journal of Alzheimer's disease: JAD