Augusto Rendon
occupation: researcher
Articles 42
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GA4GH: International policies and standards for data sharing across genomic research and healthcare
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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
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Germline selection shapes human mitochondrial DNA diversity
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The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
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Platelet function is modified by common sequence variation in megakaryocyte super enhancers
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HGVA: the Human Genome Variation Archive
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A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
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Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
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A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
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A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
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Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells
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αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia
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Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders
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Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis
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Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice
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Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis
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Transcriptional diversity during lineage commitment of human blood progenitors
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Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice.
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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
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SMIM1 underlies the Vel blood group and influences red blood cell traits
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Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci
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Comparison of methods for competitive tests of pathway analysis
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Monocyte gene expression signature of patients with early onset coronary artery disease
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Transcription factor co-localization patterns affect human cell type-specific gene expression
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Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies
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A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site
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Canonical Wnt signaling in megakaryocytes regulates proplatelet formation
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Seventy-five genetic loci influencing the human red blood cell
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Transcription factor and chromatin features predict genes associated with eQTLs
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Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
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Multiple loci are associated with white blood cell phenotypes
Human - wd:Q37638126