Showing the latest 518 publications
Publications 371-380 of 518
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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
Tuijnenburg, P., Lango Allen, H., Burns, S., Greene, D., Jansen, M., Staples, E., et al.
The Journal of Allergy and Clinical Immunology
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Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene
Ba-Abbad, R., Leys, M., Wang, X., Chakarova, C., Waseem, N., Carss, K., et al.
Investigative Ophthalmology & Visual Science
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Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension
Bohnen, M., Ma, L., Zhu, N., Qi, H., McClenaghan, C., Gonzaga-Jauregui, C., et al.
Circulation. Genomic and Precision Medicine
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Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder
Westbury, S., Downes, K., Burney, C., Lozano, M., Obaji, S., Toh, C., et al.
Blood Advances
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Reduced monocyte and macrophage TNFSF15/TL1A expression is associated with susceptibility to inflammatory bowel disease
Richard, A., Peters, J., Savinykh, N., Lee, J., Hawley, E., Meylan, F., et al.
PLoS genetics
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Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa
Fiorentino, A., Yu, J., Arno, G., Pontikos, N., Halford, S., Broadgate, S., et al.
Molecular Vision
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TNFR2 ligation in human T regulatory cells enhances IL2-induced cell proliferation through the non-canonical NF-κB pathway
Wang, J., Ferreira, R., Lu, W., Farrow, S., Downes, K., Jermutus, L., et al.
Scientific Reports
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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