Nurden, Paquita

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice

Deppermann, C., Cherpokova, D., Nurden, P., Schulz, J.-N., Thielmann, I., Kraft, P., Vögtle, T., Kleinschnitz, C., Dütting, S., Krohne, G., et al. (2013) · Journal of Clinical Investigation

Platelet Disorders and TreatmentsBlood Coagulation and Thrombosis Mechanisms

Cited by 200

Platelet-targeted gene therapy with human factor VIII establishes haemostasis in dogs with haemophilia A

Du, L. M., Nurden, P., Nurden, A. T., Nichols, T. C., Bellinger, D. A., Jensen, E. S., Haberichter, S. L., Merricks, E., Raymer, R. A., Fang, J., et al. (2013) · Nature Communications

Hemophilia Treatment and ResearchPlatelet Disorders and Treatments

Cited by 119

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 41