Showing the latest 238 publications
Publications 31-40 of 238
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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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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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The Polygenic and Monogenic Basis of Blood Traits and Diseases
Vuckovic, D., Bao, E., Akbari, P., Lareau, C., Mousas, A., Jiang, T., et al.
Cell
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Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans
Cytlak, U., Resteu, A., Pagan, S., Green, K., Milne, P., Maisuria, S., et al.
Immunity
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Development and validation of a universal blood donor genotyping platform: a multinational prospective study
Gleadall, N., Veldhuisen, B., Gollub, J., Butterworth, A., Ord, J., Penkett, C., et al.
Blood Advances
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A thermostable, closed SARS-CoV-2 spike protein trimer
Xiong, X., Qu, K., Ciazynska, K., Hosmillo, M., Carter, A., Ebrahimi, S., et al.
Nature Structural & Molecular Biology
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Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Wei, W., Pagnamenta, A., Gleadall, N., Sanchis-Juan, A., Stephens, J., Broxholme, J., et al.
Nature Communications