Showing the latest 461 publications
Publications 321-330 of 461
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Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome
Heremans, J., Garcia-Perez, J., Turro, E., Schlenner, S., Casteels, I., Collin, R., et al.
The Journal of Allergy and Clinical Immunology
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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
Ito, Y., Carss, K., Duarte, S., Hartley, T., Keren, B., Kurian, M., et al.
American Journal of Human Genetics
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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
Whitworth, J., Smith, P., Martin, J., West, H., Luchetti, A., Rodger, F., et al.
American Journal of Human Genetics
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Genome-wide meta-analysis of cognitive empathy: heritability, and correlates with sex, neuropsychiatric conditions and cognition
Warrier, V., Grasby, K., Uzefovsky, F., Toro, R., Smith, P., Chakrabarti, B., et al.
Molecular Psychiatry
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Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency
Lawless, D., Geier, C., Farmer, J., Lango Allen, H., Thwaites, D., Atschekzei, F., et al.
The Journal of Allergy and Clinical Immunology
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Abnormalities of age-related T cell senescence in Parkinson's disease
Williams-Gray, C., Wijeyekoon, R., Scott, K., Hayat, S., Barker, R., Jones, J.
Journal of Neuroinflammation
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A clinical and molecular characterisation of CRB1-associated maculopathy
Khan, K., Robson, A., Mahroo, O., Arno, G., Inglehearn, C., Armengol, M., et al.
European Journal of Human Genetics
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Better governance, better access: practising responsible data sharing in the METADAC governance infrastructure
Murtagh, M., Blell, M., Butters, O., Cowley, L., Dove, E., Goodman, A., et al.
Human Genomics
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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
Gräf, S., Haimel, M., Bleda, M., Hadinnapola, C., Southgate, L., Li, W., et al.
Nature Communications
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Shared genetic effects on chromatin and gene expression indicate a role for enhancer priming in immune response
Alasoo, K., Rodrigues, J., Mukhopadhyay, S., Knights, A., Mann, A., Kundu, K., et al.
Nature Genetics