Showing the latest 480 publications
Publications 1-10 of 480
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Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
Greene, D., De Wispelaere, K., Lees, J., Codina-Solà, M., Jensson, B., Hales, E., et al.
Nature Genetics
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The role of genetic sequencing in the diagnostic workup for chronic immune thrombocytopenia
Joshi, N., Lango-Allen, H., Downes, K., Simeoni, I., Vladescu, C., Paul, D., et al.
Blood Advances
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The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes
Tokolyi, A., Persyn, E., Nath, A., Burnham, K., Marten, J., Vanderstichele, T., et al.
Nature Genetics
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GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets
Dand, N., Stuart, P., Bowes, J., Ellinghaus, D., Nititham, J., Saklatvala, J., et al.
Nature Communications
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Expected outcomes of stratified post-donation testing in whole blood donation in England: A discrete event simulation modeling study
Qi, H., Wood, A., Kaptoge, S., McMahon, A., Mehenny, S., Kingston, N., et al.
Transfusion
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Genomic links between symptoms of eating disorders and suicidal ideation
Musial, A., Foye, U., Kakar, S., Jewell, T., Treasure, J., Kalsi, G., et al.
European Psychiatry: The Journal of the Association of European Psychiatrists
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UK Longitudinal Linkage Collaboration (UK LLC): The National Trusted Research Environment for Longitudinal Research
Boyd, A., Evans, K., Turner, E., Flaig, R., Oakley, J., Campbell, K., et al.
International Journal of Population Data Science
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Humoral responses to SARS-CoV-2 vaccine in vasculitis-related immune suppression
Kamelian, K., Sievers, B., Chen-Xu, M., Turner, S., Cheng, M., Altaf, M., et al.
Science Advances
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Genetic coupling of enhancer activity and connectivity in gene expression control
Ray-Jones, H., Sung, C., Chan, L., Haglund, A., Artemov, P., Della Rosa, M., et al.
Nature Communications
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Patients with neurological or psychiatric complications of COVID-19 have worse long-term functional outcomes: COVID-CNS-A multicentre case-control study
Shil, R., Seed, A., Franklyn, N., Sargent, B., Wood, G., Huang, Y., et al.
Scientific Reports