Showing the latest 475 publications
Publications 311-320 of 475
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FcγRIIb differentially regulates pre-immune and germinal center B cell tolerance in mouse and human
Espéli, M., Bashford-Rogers, R., Sowerby, J., Alouche, N., Wong, L., Denton, A., et al.
Nature Communications
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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
French, C., Delon, I., Dolling, H., Sanchis-Juan, A., Shamardina, O., Mégy, K., et al.
Intensive Care Medicine
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Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis
Rhodes, C., Batai, K., Bleda, M., Haimel, M., Southgate, L., Germain, M., et al.
The Lancet. Respiratory Medicine
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Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance
van der Klaauw, A., Croizier, S., Mendes de Oliveira, E., Stadler, L., Park, S., Kong, Y., et al.
Cell
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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
Bauwens, M., Garanto, A., Sangermano, R., Naessens, S., Weisschuh, N., De Zaeytijd, J., et al.
Genetics in Medicine: Official Journal of the American College of Medical Genetics
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The ADAMTS13-VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension
Newnham, M., South, K., Bleda, M., Auger, W., Barberà, J., Bogaard, H., et al.
The European Respiratory Journal
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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
Sangermano, R., Garanto, A., Khan, M., Runhart, E., Bauwens, M., Bax, N., et al.
Genetics in Medicine: Official Journal of the American College of Medical Genetics
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Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses
van Oorschot, R., Marneth, A., Bergevoet, S., van Bergen, M., Peerlinck, K., Lentaigne, C., et al.
Haematologica
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High-throughput elucidation of thrombus formation reveals sources of platelet function variability
Geffen, J., Brouns, S., Batista, J., McKinney, H., Kempster, C., Nagy, M., et al.
Haematologica
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Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
Thomson, K., Ormondroyd, E., Harper, A., Dent, T., McGuire, K., Baksi, J., et al.
Genetics in Medicine: Official Journal of the American College of Medical Genetics