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List of works by Augusto Rendon

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A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

scientific article
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article
Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies

scientific article published on 14 March 2012
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

scientific article
New gene functions in megakaryopoiesis and platelet formation

scientific article published on 30 November 2011
Seventy-five genetic loci influencing the human red blood cell

scientific article published on 5 December 2012
The distribution of the anticancer drug Doxorubicin in relation to blood vessels in solid tumors

scientific article
A HaemAtlas: characterizing gene expression in differentiated human blood cells

scientific article
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

scientific article
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

scientific article
Transcriptional diversity during lineage commitment of human blood progenitors

scientific article
Multiple loci are associated with white blood cell phenotypes

scientific article
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

scientific article published on 15 April 2016
Integrating genome-wide genetic variations and monocyte expression data reveals trans-regulated gene modules in humans

scientific article
A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function

scientific article published on 12 February 2009
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

scientific article published in the British Medical Journal
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

scientific article published on 9 April 2015
SMIM1 underlies the Vel blood group and influences red blood cell traits

scientific article
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

scientific article
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

scientific article
Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice

scientific journal article
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

scientific article
Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci

scientific article published on 09 April 2013
Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits

scientific article
Comparison of methods for competitive tests of pathway analysis

scientific article
Germline selection shapes human mitochondrial DNA diversity

scientific article published on 23 May 2019
A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site

scientific article
Canonical Wnt signaling in megakaryocytes regulates proplatelet formation

scientific article published on 16 November 2012
Monocyte gene expression signature of patients with early onset coronary artery disease

scientific article
Transcription factor and chromatin features predict genes associated with eQTLs

scientific article published on 28 December 2012
Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice

scientific article published on 19 June 2014
αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia

scientific article
Platelet function is modified by common sequence variation in megakaryocyte super enhancers

scientific article
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

scientific article published on 01 November 2019
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females

scientific article published on 2 October 2017
Transcription factor co-localization patterns affect human cell type-specific gene expression

scientific article
Towards conformal light delivery using tailored cylindrical diffusers: attainable light dose distributions

scientific article published on 30 October 2006
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

scientific article
Treatment planning using tailored and standard cylindrical light diffusers for photodynamic therapy of the prostate

scientific article published on 5 February 2008
Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

scientific article published on 30 March 2015
HGVA: the Human Genome Variation Archive

scientific article
A call to action to scale up research and clinical genomic data sharing

scientific article published on 7 October 2024
GA4GH: International policies and standards for data sharing across genomic research and healthcare

scientific article published on 10 November 2021
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update

scientific article published on 4 January 2022

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