Showing the latest 543 publications
Publications 331-340 of 543
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Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate
Sanchis-Juan, A., Hasenahuer, M., Baker, J., McTague, A., Barwick, K., Kurian, M., et al.
Molecular Genetics & Genomic Medicine
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ADA2 deficiency complicated by EBV-driven lymphoproliferative disease
Staples, E., Simeoni, I., Stephens, J., Allen, H., Wright, P., et al.
Clinical Immunology (Orlando, Fla.)
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An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data
Cipriani, V., Pontikos, N., Arno, G., Sergouniotis, P., Lenassi, E., Thawong, P., et al.
Genes
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Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
Lorenzini, T., Fliegauf, M., Klammer, N., Frede, N., Proietti, M., Bulashevska, A., et al.
The Journal of Allergy and Clinical Immunology
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Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Wei, W., Pagnamenta, A., Gleadall, N., Sanchis-Juan, A., Stephens, J., Broxholme, J., et al.
Nature Communications
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Working Towards a Blood-Derived Gene Expression Biomarker Specific for Alzheimer's Disease
Patel, H., Iniesta, R., Stahl, D., Dobson, R., Newhouse, S.
Journal of Alzheimer's disease: JAD
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Rejuvenating conventional dendritic cells and T follicular helper cell formation after vaccination
Stebegg, M., Bignon, A., Hill, D., Silva-Cayetano, A., Krueger, C., Vanderleyden, I., et al.
eLife
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Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia
Cornish, N., Aungraheeta, M., FitzGibbon, L., Burley, K., Alibhai, D., Collins, J., et al.
Blood Advances
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The influence of rare variants in circulating metabolic biomarkers
Riveros-Mckay, F., Oliver-Williams, C., Karthikeyan, S., Walter, K., Kundu, K., Ouwehand, W., et al.
PLoS genetics
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Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
Serra, E., Schwerd, T., Moutsianas, L., Cavounidis, A., Fachal, L., Pandey, S., et al.
Nature Communications