Resultats de la cerca - Ernest Turro

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  1. 1
    High‐throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders

    High‐throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders per Kathleen Freson, Ernest Turro

    Publicat 2017
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  2. 2
    Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases

    Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases per Daniel Greene, Sylvia Richardson, Ernest Turro

    Publicat 2016
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  3. 3
    ontologyX: a suite of R packages for working with ontological data

    ontologyX: a suite of R packages for working with ontological data per Daniel Greene, Sylvia Richardson, Ernest Turro

    Publicat 2016
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  4. 4
    A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases

    A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases per Daniel Greene, Sylvia Richardson, Ernest Turro

    Publicat 2017
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  5. 5
    Flexible analysis of RNA-seq data using mixed effects models

    Flexible analysis of RNA-seq data using mixed effects models per Ernest Turro, William J. Astle, Simon Tavaré

    Publicat 2013
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  6. 6
    Inherited platelet disorders: toward DNA-based diagnosis

    Inherited platelet disorders: toward DNA-based diagnosis per Claire Lentaigne, Kathleen Freson, Michael Laffan, Ernest Turro, Willem H. Ouwehand

    Publicat 2016
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  7. 7
    Haplotype and isoform specific expression estimation using multi-mapping RNA-seq reads

    Haplotype and isoform specific expression estimation using multi-mapping RNA-seq reads per Ernest Turro, Shu-Yi Su, Ângela Gonçalves, Lachlan Coin, Sylvia Richardson, Alex Lewin

    Publicat 2011
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  8. 8
    Fgf and Esrrb integrate epigenetic and transcriptional networks that regulate self-renewal of trophoblast stem cells

    Fgf and Esrrb integrate epigenetic and transcriptional networks that regulate self-renewal of trophoblast stem cells per Paulina A. Latos, Ângela Gonçalves, David Oxley, Hisham Mohammed, Ernest Turro, Myriam Hemberger

    Publicat 2015
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  9. 9
    Extensive Co-Operation between the Epstein-Barr Virus EBNA3 Proteins in the Manipulation of Host Gene Expression and Epigenetic Chromatin Modification

    Extensive Co-Operation between the Epstein-Barr Virus EBNA3 Proteins in the Manipulation of Host Gene Expression and Epigenetic Chromatin Modification per Robert E. White, Ian J. Groves, Ernest Turro, Jade Yee, Elisabeth Kremmer, Martin J. Allday

    Publicat 2010
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  10. 10
    Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders

    Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders per Daniel Greene, Chantal Thys, Ian Berry, Joanna Jarvis, Els Ortibus, Andrew Mumford, Kathleen Freson, Ernest Turro

    Publicat 2024
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  11. 11
    Extensive compensatory <i>cis-trans</i> regulation in the evolution of mouse gene expression

    Extensive compensatory <i>cis-trans</i> regulation in the evolution of mouse gene expression per Ângela Gonçalves, Sarah Leigh-Brown, David Thybert, Klara Stefflova, Ernest Turro, Paul Flicek, Alvis Brāzma, Duncan T. Odom, John C. Marioni

    Publicat 2012
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  12. 12
    mRNA structural elements immediately upstream of the start codon dictate dependence upon eIF4A helicase activity

    mRNA structural elements immediately upstream of the start codon dictate dependence upon eIF4A helicase activity per Joseph A. Waldron, David C. Tack, Laura E. Ritchey, Sarah L. Gillen, Ania Wilczynska, Ernest Turro, Philip C. Bevilacqua, Sarah M. Assmann, Martin Bushell, John Le Quesne

    Publicat 2019
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  13. 13
    The malignant phenotype in breast cancer is driven by eIF4A1-mediated changes in the translational landscape

    The malignant phenotype in breast cancer is driven by eIF4A1-mediated changes in the translational landscape per A. Modelska, Ernest Turro, Robert B. Russell, J Beaton, Thomas Sbarrato, Keith A. Spriggs, Jodi L. Miller, Stefan Gräf, Elena Provenzano, Fiona M. Blows, Paul D.P. Pharoah, Carlos Caldas, John Le Quesne

    Publicat 2015
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  14. 14
    Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

    Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia per Claire L. Shovlin, Ilenia Simeoni, Kate Downes, Zoe C. Frazer, Karyn Mégy, María E Bernabeu-Herrero, Abigail Shurr, Jennifer Brimley, Dilipkumar Patel, Loren Kell, Jonathan Stephens, Isobel G. Turbin, Micheala A. Aldred, Christopher J. Penkett, Willem H. Ouwehand, Luca Jovine, Ernest Turro

    Publicat 2020
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  15. 15
    GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

    GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting per Shoshana Revel‐Vilk, Ela Shai, Ernest Turro, Nivin Jahshan, Esti Hi-Am, Galia Spectre, Hagit Daum, Yossef Kalish, Karina Althaus, Andreas Greinacher, Chaim Kaplinsky, Shai Izraeli, Rutendo Mapeta, Sri V. V. Deevi, Danuta Jarocha, Willem H. Ouwehand, Kate Downes, Mortimer Poncz, David Varon, Michele P. Lambert

    Publicat 2018
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  16. 16
    Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg2+ homeostasis and cytoskeletal architecture

    Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg2+ homeostasis and cytoskeletal architecture per Simon Stritt, Paquita Nurden, Rémi Favier, Marie Favier, Silvia Ferioli, Sanjeev Kiran Gotru, Judith M.M. van Eeuwijk, Harald Schulze, Alan T. Nurden, Michele P. Lambert, Ernest Turro, Stephanie Burger‐Stritt, Masayuki Matsushita, Lorenz Mittermeier, Paola Ballerini, Susanna Zierler, Michael Laffan, Vladimir Chubanov, Thomas Gudermann, Bernhard Nieswandt, Attila Braun

    Publicat 2016
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  17. 17
    Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome

    Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome per Jessica Heremans, Josselyn E. Garcia‐Perez, Ernest Turro, Susan Schlenner, Ingele Casteels, Roxanne Collin, Francis de Zegher, Daniel Greene, Stéphanie Humblet‐Baron, Sylvie Lesage, Patrick Matthys, Christopher J. Penkett, Karen Put, Kathleen Stirrups, Chantal Thys, Chris Van Geet, Erika Van Nieuwenhove, Carine Wouters, Isabelle Meyts, Kathleen Freson, Adrian Liston

    Publicat 2018
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  18. 18
    Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

    Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding per Sarah K. Westbury, Matthias Canault, Daniel Greene, Emilsé Bermejo, Katharine Hanlon, Michele P. Lambert, Carolyn M. Millar, Paquita Nurden, Samya Obaji, Shoshana Revel‐Vilk, Chris Van Geet, Kate Downes, Sofia Papadia, Salih Tuna, Christopher D. Watt, Kathleen Freson, Michael Laffan, Willem H. Ouwehand, Marie‐Christine Alessi, Ernest Turro, Andrew Mumford

    Publicat 2017
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  19. 19
    Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

    Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia per Suthesh Sivapalaratnam, Sarah K. Westbury, Jonathan Stephens, Daniel Greene, Kate Downes, Anne M. Kelly, Claire Lentaigne, William J. Astle, Eric G. Huizinga, Paquita Nurden, Sofia Papadia, Kathelijne Peerlinck, Christopher J. Penkett, David J. Perry, Catherine Roughley, Ilenia Simeoni, Kathleen Stirrups, Daniel P. Hart, Robert C. Tait, Andrew Mumford, Michael Laffan, Kathleen Freson, Willem H. Ouwehand, Shinji Kunishima, Ernest Turro

    Publicat 2016
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  20. 20
    Germline variants in <i>ETV6</i> underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34 <sup>+</sup> progenitors

    Germline variants in <i>ETV6</i> underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34 <sup>+</sup> progenitors per Marjorie Poggi, Matthias Canault, Marie Favier, Ernest Turro, Paul Saultier, Dorsaf Ghalloussi, Véronique Baccini, Léa Vidal, Anna Mezzapesa, Nadjim Chelghoum, Badreddine Mohand Oumoussa, Céline Falaise, Rémi Favier, Willem H. Ouwehand, Mathieu Fiore, Franck Peiretti, Pierre‐Emmanuel Morange, Noémie Saut, Denis Bernot, Andreas Greinacher, NIHR BioResource, Alan T. Nurden, Paquita Nurden, Kathleen Freson, David‐Alexandre Trégouët, Hana Raslová, Marie‐Christine Alessi

    Publicat 2016
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