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 212 publications
Publications 1-10 of 212
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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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The Impact of NOD2 Genetic Variants on the Gut Mycobiota in Crohn's Disease Patients in Remission and 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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Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension
Ulrich, A., Otero-Núñez, P., Wharton, J., Swietlik, E., Gräf, S., Morrell, N., et al.
Genes
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Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy
Bertrand, R., Wang, J., Xiong, K., Thangavel, C., Qian, X., Ba-Abbad, R., et al.
Genetics in Medicine: Official Journal of the American College of Medical Genetics
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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
de Bruijn, S., Fiorentino, A., Ottaviani, D., Fanucchi, S., Melo, U., Corral-Serrano, J., et al.
American Journal of Human Genetics
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Thiopurine monotherapy is effective in ulcerative colitis but significantly less so in Crohn's disease: long-term outcomes for 11 928 patients in the UK inflammatory bowel disease bioresource
Stournaras, E., Qian, W., Pappas, A., Hong, Y., Shawky, R., et al.
Gut
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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