Showing the latest 475 publications
Publications 391-400 of 475
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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
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Increased DNA methylation variability in type 1 diabetes across three immune effector cell types
Paul, D., Teschendorff, A., Dang, M., Lowe, R., Hawa, M., Ecker, S., et al.
Nature Communications
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Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells
Chen, L., Ge, B., Casale, F., Vasquez, L., Kwan, T., Garrido-Martín, D., et al.
Cell
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Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters
Javierre, B., Burren, O., Wilder, S., Kreuzhuber, R., Hill, S., Sewitz, S., et al.
Cell