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Author Details

Augusto Rendon
Genomics England Ltd
2005
48
31
PMIDPaper TitleJournal TitlePublished Year
37115922The genomic landscape of familial glioma.Sci Adv2023
37115922The genomic landscape of familial glioma.Sci Adv2023
35892470Newborn Screening by Genomic Sequencing: Opportunities and Challenges.Int J Neonatal Screen2022
35892470Newborn Screening by Genomic Sequencing: Opportunities and Challenges.Int J Neonatal Screen2022
35861231Re: Best et al., 'Unlocking the potential of the UK 100,000 Genomes Project - Lessons learned from analysis of the "Congenital malformations caused by ciliopathies" cohort'.Am J Med Genet A2022
35861231Re: Best et al., 'Unlocking the potential of the UK 100,000 Genomes Project - Lessons learned from analysis of the "Congenital malformations caused by ciliopathies" cohort'.Am J Med Genet A2022
34329581Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.Am J Hum Genet2021
34329581Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.Am J Hum Genet2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
32750130Development and validation of a universal blood donor genotyping platform: a multinational prospective study.Blood Adv2020
32750130Development and validation of a universal blood donor genotyping platform: a multinational prospective study.Blood Adv2020
30922213PyCellBase, an efficient python package for easy retrieval of biological data from heterogeneous sources.BMC Bioinformatics2019
31676867PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.Nat Genet2019
30922213PyCellBase, an efficient python package for easy retrieval of biological data from heterogeneous sources.BMC Bioinformatics2019
31123110Germline selection shapes human mitochondrial DNA diversity.Science2019
31676867PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.Nat Genet2019
31123110Germline selection shapes human mitochondrial DNA diversity.Science2019
28967191Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.Hum Mutat2018
28967191Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.Hum Mutat2018
29691228The 100â¿¿000 Genomes Project: bringing whole genome sequencing to the NHS.BMJ2018
29691228The 100â¿¿000 Genomes Project: bringing whole genome sequencing to the NHS.BMJ2018
28535294HGVA: the Human Genome Variation Archive.Nucleic Acids Res2017
28535294HGVA: the Human Genome Variation Archive.Nucleic Acids Res2017
28703137Platelet function is modified by common sequence variation in megakaryocyte super enhancers.Nat Commun2017
29198722A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.Am J Hum Genet2017
29198722A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.Am J Hum Genet2017
28703137Platelet function is modified by common sequence variation in megakaryocyte super enhancers.Nat Commun2017
27084890A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.Blood2016
26912466A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.Blood2016
27084890A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.Blood2016
26936507A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.Sci Transl Med2016
27863251Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.Cell2016
27863251Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.Cell2016
26912466A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.Blood2016
26936507A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.Sci Transl Med2016
25817829Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.Nat Commun2015
25827233αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.Proc Natl Acad Sci U S A2015
25817829Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.Nat Commun2015
25949529Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.Genome Med2015
25827233αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.Proc Natl Acad Sci U S A2015
25949529Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.Genome Med2015
24947683Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice.Transfusion2014
25258341Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice.Blood2014
25258084Transcriptional diversity during lineage commitment of human blood progenitors.Science2014
24947683Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice.Transfusion2014
25258341Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice.Blood2014
25258084Transcriptional diversity during lineage commitment of human blood progenitors.Science2014
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Collaborators

University of Cambridge
Co-authored papers 31
Wellcome Sanger Institute
Co-authored papers 14
Co-authored papers 13
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 10
Co-authored papers 10
Co-authored papers 9
Co-authored papers 8
German Research Center for Cardiovascular Disease (DZHK)
Co-authored papers 8
National Health Service Blood and Transplant, University of Cambridge
Co-authored papers 7
Cambridge University Hospitals NHS Foundation
Co-authored papers 7
Icahn School of Medicine at Mount Sinai
Co-authored papers 7
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Co-authored papers 7
King's College London
Co-authored papers 7
Co-authored papers 7
University Hospital Augsburg
Co-authored papers 6
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Co-authored papers 6
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Co-authored papers 6
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University of Cambridge
Co-authored papers 6
Co-authored papers 6
Co-authored papers 6
Co-authored papers 6
University of Bristol
Co-authored papers 6
University of Cambridge
Co-authored papers 6
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 6