Showing the latest 478 publications
Publications 391-400 of 478
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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
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The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
Astle, W., Elding, H., Jiang, T., Allen, D., Ruklisa, D., Mann, A., et al.
Cell
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DNA Methylation Dynamics of Human Hematopoietic Stem Cell Differentiation
Farlik, M., Halbritter, F., Müller, F., Choudry, F., Ebert, P., Klughammer, J., et al.
Cell Stem Cell
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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
Arno, G., Agrawal, S., Eblimit, A., Bellingham, J., Xu, M., Wang, F., et al.
American Journal of Human Genetics