Showing the latest 461 publications
Publications 301-310 of 461
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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
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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
Sanchis-Juan, A., Stephens, J., French, C., Gleadall, N., Mégy, K., Penkett, C., et al.
Genome Medicine
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Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration
Borooah, S., Stanton, C., Marsh, J., Carss, K., Waseem, N., Biswas, P., et al.
Ophthalmic Genetics
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Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia
Bariana, T., Labarque, V., Heremans, J., Thys, C., De Reys, M., Greene, D., et al.
Haematologica
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Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
Gilly, A., Suveges, D., Kuchenbaecker, K., Pollard, M., Southam, L., Hatzikotoulas, K., et al.
Nature Communications