Showing the latest 455 publications
Publications 331-340 of 455
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Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
Ellingford, J., Horn, B., Campbell, C., Arno, G., Barton, S., Tate, C., et al.
Journal of Medical Genetics
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Metabolomic markers of fatigue: Association between circulating metabolome and fatigue in women with chronic widespread pain
Freidin, M., Wells, H., Potter, T., Livshits, G., Menni, C., Williams, F.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
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Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
Farmery, J., Smith, M., Lynch, A.
Scientific Reports
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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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Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis
Schormair, B., Zhao, C., Bell, S., Tilch, E., Salminen, A., Pütz, B., et al.
The Lancet. Neurology
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Cells with Treg-specific FOXP3 demethylation but low CD25 are prevalent in autoimmunity
Ferreira, R., Simons, H., Thompson, W., Rainbow, D., Yang, X., Cutler, A., et al.
Journal of Autoimmunity
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Capturing the systemic immune signature of a norovirus infection: an n-of-1 case study within a clinical trial
Cutler, A., Oliveira, J., Ferreira, R., Challis, B., Walker, N., Caddy, S., et al.
Wellcome Open Research
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Chromosome contacts in activated T cells identify autoimmune disease candidate genes
Burren, O., Rubio García, A., Javierre, B., Rainbow, D., Cairns, J., Cooper, N., et al.
Genome Biology
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Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding
Westbury, S., Canault, M., Greene, D., Bermejo, E., Hanlon, K., Lambert, M., et al.
Blood
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Neonatal and adult recent thymic emigrants produce IL-8 and express complement receptors CR1 and CR2
Pekalski, M., García, A., Ferreira, R., Rainbow, D., Smyth, D., Mashar, M., et al.
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