Showing the latest 489 publications
Publications 431-440 of 489
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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
Simeoni, I., Stephens, J., Hu, F., Deevi, S., Megy, K., Bariana, T., et al.
Blood
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A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
Stritt, S., Nurden, P., Turro, E., Greene, D., Jansen, S., Westbury, S., et al.
Blood
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Peripheral Immune Cell Populations Associated with Cognitive Deficits and Negative Symptoms of Treatment-Resistant Schizophrenia
Fernandez-Egea, E., Vértes, P., Flint, S., Turner, L., Mustafa, S., Hatton, A., et al.
PloS One
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De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
Mencacci, N., Kamsteeg, E., Nakashima, K., R'Bibo, L., Lynch, D., Balint, B., et al.
American Journal of Human Genetics
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The cellular composition of the human immune system is shaped by age and cohabitation
Carr, E., Dooley, J., Garcia-Perez, J., Lagou, V., Lee, J., Wouters, C., et al.
Nature Immunology
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Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
Singh, T., Kurki, M., Curtis, D., Purcell, S., Crooks, L., McRae, J., et al.
Nature Neuroscience
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Integrated genome-scale analysis of the transcriptional regulatory landscape in a blood stem/progenitor cell model
Wilson, N., Schoenfelder, S., Hannah, R., Sánchez Castillo, M., Schütte, J., Ladopoulos, V., et al.
Blood
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Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architecture
Stritt, S., Nurden, P., Favier, R., Favier, M., Ferioli, S., Gotru, S., et al.
Nature Communications
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Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases
Greene, D., Richardson, S., Turro, E.
American Journal of Human Genetics
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A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
Turro, E., Greene, D., Wijgaerts, A., Thys, C., Lentaigne, C., Bariana, T., et al.
Science Translational Medicine