Showing the latest 475 publications
Publications 231-240 of 475
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Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells
Chen, L., Yang, R., Kwan, T., Tang, C., Watt, S., Zhang, Y., et al.
Scientific Data
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Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension
Ulrich, A., Otero-Núñez, P., Wharton, J., Swietlik, E., Gräf, S., Morrell, N., et al.
Genes
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Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia
Shovlin, C., Simeoni, I., Downes, K., Frazer, Z., Megy, K., Bernabeu-Herrero, M., et al.
Blood
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Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy
Bertrand, R., Wang, J., Xiong, K., Thangavel, C., Qian, X., Ba-Abbad, R., et al.
Genetics in Medicine: Official Journal of the American College of Medical Genetics
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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
de Bruijn, S., Fiorentino, A., Ottaviani, D., Fanucchi, S., Melo, U., Corral-Serrano, J., et al.
American Journal of Human Genetics
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Thiopurine monotherapy is effective in ulcerative colitis but significantly less so in Crohn's disease: long-term outcomes for 11 928 patients in the UK inflammatory bowel disease bioresource
Stournaras, E., Qian, W., Pappas, A., Hong, Y., Shawky, R., et al.
Gut
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Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases
Zheng, J., Haberland, V., Baird, D., Walker, V., Haycock, P., Hurle, M., et al.
Nature Genetics
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Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees
Sprenkeler, E., Tool, A., Kreft, I., van Alphen, F., Seneviratne, S., et al.
British Journal of Haematology
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Combined Point-of-Care Nucleic Acid and Antibody Testing for SARS-CoV-2 following Emergence of D614G Spike Variant
Mlcochova, P., Collier, D., Ritchie, A., Assennato, S., Hosmillo, M., Goel, N., et al.
Cell Reports. Medicine
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Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease
Khan, M., Arno, G., Fakin, A., Parfitt, D., Dhooge, P., Albert, S., et al.
Molecular Therapy. Nucleic Acids