Showing the latest 461 publications
Publications 371-380 of 461
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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
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Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types
Ecker, S., Chen, L., Pancaldi, V., Bagger, F., Fernández, J., Carrillo de Santa Pau, E., et al.
Genome Biology
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Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia
Sivapalaratnam, S., Westbury, S., Stephens, J., Greene, D., Downes, K., Kelly, A., et al.
Blood
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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
Carss, K., Arno, G., Erwood, M., Stephens, J., Sanchis-Juan, A., Hull, S., et al.
American Journal of Human Genetics
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Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa
Hull, S., Attanasio, M., Arno, G., Carss, K., Robson, A., Thompson, D., et al.
JAMA ophthalmology