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 1-10 of 221
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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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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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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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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
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Early immune pathology and persistent dysregulation characterise severe COVID-19
Bergamaschi, L., Mescia, F., Turner, L., Hanson, A., Kotagiri, P., Dunmore, B., et al.
medRxiv
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Treatment of COVID-19 with remdesivir in the absence of humoral immunity: a case report
Buckland, M., Galloway, J., Fhogartaigh, C., Meredith, L., Provine, N., Bloor, S., et al.
Nature Communications
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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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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Cif, L., Demailly, D., Lin, J., Barwick, K., Sa, M., Abela, L., et al.
Brain: A Journal of Neurology
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'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension
Swietlik, E., Prapa, M., Martin, J., Pandya, D., Auckland, K., Morrell, N., et al.
Genes
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De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment
Rodger, C., Flex, E., Allison, R., Sanchis-Juan, A., Hasenahuer, M., Cecchetti, S., et al.
American Journal of Human Genetics