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 190 publications
Publications 31-40 of 190
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Increased DNA methylation variability in type 1 diabetes across three immune effector cell types
Paul, D., Teschendorff, A., Dang, M., Lowe, R., Hawa, M., Ecker, S., et al.
Nature Communications
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Antibodies against insulin measured by electrochemiluminescence predicts insulitis severity and disease onset in non-obese diabetic mice and can distinguish human type 1 diabetes status
Lo, B., Swafford, A., Shafer-Weaver, K., Jerome, L., Rakhlin, L., Mathern, D., et al.
Journal of Translational Medicine
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How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study
Tan, R., Traylor, M., Megy, K., Duarte, D., Deevi, S., Shamardina, O., et al.
Neurology
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Transcription profiling in human platelets reveals LRRFIP1 as a novel protein regulating platelet function
Goodall, A., Burns, P., Salles, I., Macaulay, I., Jones, C., Ardissino, D., et al.
Blood
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Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia
Bariana, T., Labarque, V., Heremans, J., Thys, C., De Reys, M., Greene, D., et al.
Haematologica
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Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
Hadinnapola, C., Bleda, M., Haimel, M., Screaton, N., Swift, A., Dorfmüller, P., et al.
Circulation
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Characterization of a large cohort of patients with unclassified bleeding disorder; clinical features, management of haemostatic challenges and use of global haemostatic assessment with proposed recommendations for diagnosis and treatment
MacDonald, S., Wright, A., Beuche, F., Downes, K., Besser, M., Symington, E., et al.
International Journal of Laboratory Hematology
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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
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Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells
Chen, L., Ge, B., Casale, F., Vasquez, L., Kwan, T., Garrido-Martín, D., et al.
Cell
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Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters
Javierre, B., Burren, O., Wilder, S., Kreuzhuber, R., Hill, S., Sewitz, S., et al.
Cell