Showing the latest 518 publications
Publications 361-370 of 518
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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
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GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting
Revel-Vilk, S., Shai, E., Turro, E., Jahshan, N., Hi-Am, E., Spectre, G., et al.
Blood
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Helbig, K., Lauerer, R., Bahr, J., Souza, I., Myers, C., Uysal, B., et al.
American Journal of Human Genetics
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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency
Alston, C., Heidler, J., Dibley, M., Kremer, L., Taylor, L., Fratter, C., et al.
American Journal of Human Genetics