Showing the latest 238 publications
Publications 11-20 of 238
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Longitudinal analysis reveals that delayed bystander CD8+ T cell activation and early immune pathology distinguish severe COVID-19 from mild disease
Bergamaschi, L., Mescia, F., Turner, L., Hanson, A., Kotagiri, P., Dunmore, B., et al.
Immunity
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Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH
Zhu, N., Swietlik, E., Welch, C., Pauciulo, M., Hagen, J., Zhou, X., et al.
Genome Medicine
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The Impact of NOD2 Genetic Variants on the Gut Mycobiota in Crohn's Disease Patients in Remission and in 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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Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature
Jurkute, N., Shanmugarajah, P., Hadjivassiliou, M., Higgs, J., Vojcic, M., Horrocks, I., et al.
Investigative Ophthalmology & Visual Science
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Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function
Chan, M., Hayman, M., Sivapalaratnam, S., Crescente, M., Allan, H., Edin, M., et al.
Haematologica
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Single-cell multi-omics analysis of the immune response in COVID-19
Stephenson, E., Reynolds, G., Botting, R., Calero-Nieto, F., Morgan, M., Tuong, Z., et al.
Nature Medicine
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Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2
Whitworth, J., Casey, R., Smith, P., Giger, O., Martin, J., Clark, G., et al.
European journal of human genetics: EJHG
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Advances in understanding the pathogenesis of hereditary macrothrombocytopenia
Collins, J., Astle, W., Megy, K., Mumford, A., Vuckovic, D.
British Journal of Haematology
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Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies
Collier, D., De Marco, A., Ferreira, I., Meng, B., Datir, R., Walls, A., et al.
Nature
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Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H., Bakker, D., et al.
Genetics in Medicine: Official Journal of the American College of Medical Genetics