Showing the latest 475 publications
Publications 381-390 of 475
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GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome
Danti, F., Galosi, S., Romani, M., Montomoli, M., Carss, K., Raymond, F., et al.
Neurology. Genetics
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Human Cytomegalovirus (HCMV)-Specific CD4+ T Cells Are Polyfunctional and Can Respond to HCMV-Infected Dendritic Cells In Vitro
Jackson, S., Sedikides, G., Mason, G., Okecha, G., Wills, M.
Journal of Virology
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Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia
Pleines, I., Woods, J., Chappaz, S., Kew, V., Foad, N., Ballester-Beltrán, J., et al.
The Journal of Clinical Investigation
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Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management
Bariana, T., Ouwehand, W., Guerrero, J., Gomez, K.
British Journal of Haematology
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High resolution HLA haplotyping by imputation for a British population bioresource
Neville, M., Lee, W., Humburg, P., Wong, D., Barnardo, M., Karpe, F., et al.
Human Immunology
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Identification and Validation Novel Risk Genes for Type 1 Diabetes – A Meta-Analysis
Yang, P., Chorath, A., Jiang, W.
Med One
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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
Arno, G., Carss, K., Hull, S., Zihni, C., Robson, A., Fiorentino, A., et al.
American Journal of Human Genetics
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Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors
Poggi, M., Canault, M., Favier, M., Turro, E., Saultier, P., Ghalloussi, D., et al.
Haematologica
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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Meyer, E., Carss, K., Rankin, J., Nichols, J., Grozeva, D., Joseph, A., et al.
Nature Genetics
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Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease
Ji, S., Juran, B., Mucha, S., Folseraas, T., Jostins, L., Melum, E., et al.
Nature Genetics