Showing the latest 461 publications
Publications 411-420 of 461
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Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases
Greene, D., Richardson, S., Turro, E.
American Journal of Human Genetics
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A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
Turro, E., Greene, D., Wijgaerts, A., Thys, C., Lentaigne, C., Bariana, T., et al.
Science Translational Medicine
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Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140
Hull, S., Owen, N., Islam, F., Tracey-White, D., Plagnol, V., Holder, G., et al.
Investigative Ophthalmology & Visual Science
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Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans
Ba-Abbad, R., Arno, G., Carss, K., Stirrups, K., Penkett, C., Moore, A., et al.
Ophthalmology
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Further studies of the down-regulation by Factor I of the C3b feedback cycle using endotoxin as a soluble activator and red cells as a source of CR1 on sera of different complotype
Lachmann, P., Lay, E., Seilly, D., Buchberger, A., Schwaeble, W., Khadake, J.
Clinical and Experimental Immunology
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Complotype affects the extent of down-regulation by Factor I of the C3b feedback cycle in vitro
Lay, E., Nutland, S., Smith, J., Hiles, I., Smith, R., Seilly, D., et al.
Clinical and Experimental Immunology
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Widespread seasonal gene expression reveals annual differences in human immunity and physiology
Dopico, X., Evangelou, M., Ferreira, R., Guo, H., Pekalski, M., Smyth, D., et al.
Nature Communications
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Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders
Westbury, S., Turro, E., Greene, D., Lentaigne, C., Kelly, A., Bariana, T., et al.
Genome Medicine
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Lipid-induced epigenomic changes in human macrophages identify a coronary artery disease-associated variant that regulates PPAP2B Expression through Altered C/EBP-beta binding
Reschen, M., Gaulton, K., Lin, D., Soilleux, E., Morris, A., Smyth, S., et al.
PLoS genetics
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Effective recruitment of participants to a phase I study using the internet and publicity releases through charities and patient organisations: analysis of the adaptive study of IL-2 dose on regulatory T cells in type 1 diabetes (DILT1D)
Heywood, J., Evangelou, M., Goymer, D., Kennet, J., Anselmiova, K., Guy, C., et al.
Trials