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 204 publications
Publications 21-30 of 204
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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
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Rejuvenating conventional dendritic cells and T follicular helper cell formation after vaccination
Stebegg, M., Bignon, A., Hill, D., Silva-Cayetano, A., Krueger, C., Vanderleyden, I., et al.
eLife
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Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia
Cornish, N., Aungraheeta, M., FitzGibbon, L., Burley, K., Alibhai, D., Collins, J., et al.
Blood Advances
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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
Chen, X., Sanchis-Juan, A., French, C., Connell, A., Delon, I., Kingsbury, Z., et al.
Genetics in Medicine: Official Journal of the American College of Medical Genetics
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Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension
Ulrich, A., Wharton, J., Thayer, T., Swietlik, E., Assad, T., Desai, A., et al.
The European Respiratory Journal