Showing the latest 475 publications
Publications 341-350 of 475
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A clinical and molecular characterisation of CRB1-associated maculopathy
Khan, K., Robson, A., Mahroo, O., Arno, G., Inglehearn, C., Armengol, M., et al.
European Journal of Human Genetics
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Better governance, better access: practising responsible data sharing in the METADAC governance infrastructure
Murtagh, M., Blell, M., Butters, O., Cowley, L., Dove, E., Goodman, A., et al.
Human Genomics
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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
Gräf, S., Haimel, M., Bleda, M., Hadinnapola, C., Southgate, L., Li, W., et al.
Nature Communications
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Shared genetic effects on chromatin and gene expression indicate a role for enhancer priming in immune response
Alasoo, K., Rodrigues, J., Mukhopadhyay, S., Knights, A., Mann, A., Kundu, K., et al.
Nature Genetics
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DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM
Khan, K., Lord, E., Arno, G., Islam, F., Carss, K., Raymond, F., et al.
Retina (Philadelphia, Pa.)
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Multiple sclerosis risk variants alter expression of co-stimulatory genes in B cells
Smets, I., Fiddes, B., Garcia-Perez, J., He, D., Mallants, K., Liao, W., et al.
Brain: A Journal of Neurology
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NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease
Schwerd, T., Bryant, R., Pandey, S., Capitani, M., Meran, L., Cazier, J., et al.
Mucosal Immunology
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Nbeal2 interacts with Dock7, Sec16a, and Vac14
Mayer, L., Jasztal, M., Pardo, M., Aguera de Haro, S., Collins, J., Bariana, T., et al.
Blood
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The Impact of NOD2 Variants on Fecal Microbiota in Crohn's Disease and Controls Without Gastrointestinal Disease
Kennedy, N., Lamb, C., Berry, S., Walker, A., Mansfield, J., Parkes, M., et al.
Inflammatory Bowel Diseases
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Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair
Liu, F., Chen, Y., Zhu, G., Hysi, P., Wu, S., Adhikari, K., et al.
Human Molecular Genetics