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 225 publications
Publications 1-10 of 225
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The Impact of NOD2 Genetic Variants on the Gut Mycobiota in Crohn's Disease Patients in Remission and in Individuals Without Gastrointestinal Inflammation
Nelson, A., Stewart, C., Kennedy, N., Lodge, J., Tremelling, M., Probert, C., et al.
Journal of Crohn's & Colitis
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Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature
Jurkute, N., Shanmugarajah, P., Hadjivassiliou, M., Higgs, J., Vojcic, M., Horrocks, I., et al.
Investigative Ophthalmology & Visual Science
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Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies
Collier, D., De Marco, A., Ferreira, I., Meng, B., Datir, R., Walls, A., et al.
Nature
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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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Single-cell multi-omics analysis of the immune response in COVID-19
Stephenson, E., Reynolds, G., Botting, R., Calero-Nieto, F., Morgan, M., Tuong, Z., et al.
Nature Medicine
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Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2
Whitworth, J., Casey, R., Smith, P., Giger, O., Martin, J., Clark, G., et al.
European journal of human genetics: EJHG
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SARS-CoV-2 evolution during treatment of chronic infection
Kemp, S., Collier, D., Datir, R., Ferreira, I., Gayed, S., Jahun, A., et al.
Nature
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Advances in understanding the pathogenesis of hereditary macrothrombocytopenia
Collins, J., Astle, W., Megy, K., Mumford, A., Vuckovic, D.
British Journal of Haematology
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Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H., Bakker, D., et al.
Genetics in Medicine: Official Journal of the American College of Medical Genetics
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Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease
Annear, D., Vandeweyer, G., Elinck, E., Sanchis-Juan, A., French, C., Raymond, L., et al.
Scientific Reports