检索结果 - Roddy Walsh

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  1. 1
    When genetic burden reaches threshold

    When genetic burden reaches threshold 由 Roddy Walsh, Rafik Tadros, Connie R. Bezzina

    出版 2020
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  2. 2
    Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia

    Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia 由 Roddy Walsh, Nicholas S. Peters, Stuart A. Cook, James S. Ware

    出版 2013
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  3. 3
    Paralogous annotation of disease-causing variants in long QT syndrome genes

    Paralogous annotation of disease-causing variants in long QT syndrome genes 由 James S. Ware, Roddy Walsh, Fiona Cunningham, Ewan Birney, Stuart A. Cook

    出版 2012
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  4. 4
    Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?

    Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing? 由 Francesco Mazzarotto, Iacopo Olivotto, Beatrice Boschi, Francesca Girolami, Corrado Poggesi, Paul J.R. Barton, Roddy Walsh

    出版 2020
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  5. 5
    Truncating Variants in Titin Independently Predict Early Arrhythmias in Patients With Dilated Cardiomyopathy

    Truncating Variants in Titin Independently Predict Early Arrhythmias in Patients With Dilated Cardiomyopathy 由 Upasana Tayal, Simon Newsome, Rachel Buchan, Nicola Whiffin, Roddy Walsh, Paul J.R. Barton, James S. Ware, Stuart A. Cook, Sanjay Prasad

    出版 2017
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  6. 6
    Moderate Physical Activity in Healthy Adults Is Associated With Cardiac Remodeling

    Moderate Physical Activity in Healthy Adults Is Associated With Cardiac Remodeling 由 Timothy J. W. Dawes, Ben Corden, Sorcha Cotter, Antonio de Marvao, Roddy Walsh, James S. Ware, Stuart A. Cook, Declan P. O’Regan

    出版 2016
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  7. 7
    Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies

    Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies 由 Alex Lipov, Sean J. Jurgens, Francesco Mazzarotto, Mona Allouba, James P. Pirruccello, Yasmine Aguib, Massimo Gennarelli, Magdi H. Yacoub, Patrick T. Ellinor, Connie R. Bezzina, Roddy Walsh

    出版 2023
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  8. 8
    Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA Sequencers

    Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA Sequencers 由 Man Li, Andrew Buckton, Stephen Wilkinson, Shibu John, Roddy Walsh, Tomáš Novotný, Iveta Valášková, Manu Gupta, Laurence Gamé, Paul J.R. Barton, Stuart A. Cook, James S. Ware

    出版 2013
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  9. 9
    Using high-resolution variant frequencies to empower clinical genome interpretation

    Using high-resolution variant frequencies to empower clinical genome interpretation 由 Nicola Whiffin, Eric Vallabh Minikel, Roddy Walsh, Anne O’Donnell‐Luria, Konrad J. Karczewski, Alexander Ing, Paul J.R. Barton, Birgit Funke, Stuart A. Cook, Daniel G. MacArthur, James S. Ware

    出版 2017
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  10. 10
    4258Re-evaluating the genetic contribution of monogenic dilated cardiomyopathy

    4258Re-evaluating the genetic contribution of monogenic dilated cardiomyopathy 由 Francesco Mazzarotto, Upasana Tayal, Rachel Buchan, William Midwinter, Alicja Wilk, Nicola Whiffin, Hugh Watkins, Birgit Funke, Declan P. O’Regan, Iacopo Olivotto, Paul J.R. Barton, S. K. Prasad, Stuart A. Cook, James S. Ware, Roddy Walsh

    出版 2019
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  11. 11
    Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

    Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples 由 Roddy Walsh, Kate Thomson, James S. Ware, Birgit Funke, Jessica Woodley, Karen McGuire, Francesco Mazzarotto, Edward Blair, A Seller, Jenny C. Taylor, Eric Vallabh Minikel, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook, Hugh Watkins

    出版 2016
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  12. 12
    Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

    Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center 由 Francesco Mazzarotto, Francesca Girolami, Beatrice Boschi, Fausto Barlocco, Alessia Tomberli, Katia Baldini, Raffaele Coppini, Ilaria Tanini, Sara Bardi, Elisa Contini, Franco Cecchi, Elisabetta Pelo, Stuart A. Cook, Elisabetta Cerbai, Corrado Poggesi, Francesca Torricelli, Roddy Walsh, Iacopo Olivotto

    出版 2018
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  13. 13
    Detection of mutations in <i>KLHL3</i> and <i>CUL3</i> in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome)

    Detection of mutations in <i>KLHL3</i> and <i>CUL3</i> in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome) 由 Mark Glover, James S. Ware, Amanda P. Henry, Martin Wolley, Roddy Walsh, Louise V. Wain, Shengxin Xu, William G. van’t Hoff, Martin D. Tobin, Ian P. Hall, Stuart A. Cook, Richard D. Gordon, Michael Stowasser, Kevin M. O’Shaughnessy

    出版 2013
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  14. 14
    Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

    Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples 由 Roddy Walsh, Kate Thomson, James S. Ware, Birgit Funke, Jessica Woodley, Karen McGuire, Francesco Mazzarotto, Edward Blair, A Seller, Jenny C. Taylor, Eric Vallabh Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook, Hugh Watkins

    出版 2016
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  15. 15
    Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes

    Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes 由 Roddy Walsh, Rachel Buchan, Alicja Wilk, Shibu John, Leanne E. Felkin, Kate Thomson, Tang Hak Chiaw, Calvin Chin, Chee Jian Pua, Claire E. Raphael, Sanjay Prasad, Paul J.R. Barton, Birgit Funke, Hugh Watkins, James S. Ware, Stuart A. Cook

    出版 2016
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  16. 16
    Complex roads from genotype to phenotype in dilated cardiomyopathy: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology

    Complex roads from genotype to phenotype in dilated cardiomyopathy: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology 由 Antoine Bondue, Eloisa Arbustini, Anna Monica Bianco, Michele Ciccarelli, Dana Dawson, Matteo de Rosa, Nazha Hamdani, Denise Hilfiker‐Kleiner, Benjamin Meder, Adelino Leite‐Moreira, Thomas Thum, Carlo G. Tocchetti, Gilda Varricchi, Jolanda van der Velden, Roddy Walsh, Stéphane Heymans

    出版 2018
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  17. 17
    Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy

    Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy 由 Mona Allouba, Roddy Walsh, Alaa Afify, Mohamed Hosny, Sarah Halawa, Aya Galal, Mariam Fathy, Pantazis Theotokis, Ahmed Boraey, Amany Ellithy, Rachel Buchan, Risha Govind, Nicola Whiffin, Shehab Anwer, Ahmed ElGuindy, James S. Ware, Paul J.R. Barton, Magdi H. Yacoub, Yasmine Aguib

    出版 2023
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  18. 18
    Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

    Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes 由 Chee Jian Pua, Jaydutt Bhalshankar, Kui Miao, Roddy Walsh, Shibu John, Shi Qi Lim, Kingsley Chow, Rachel Buchan, Bee Y. Soh, Pei Min Lio, Jaclyn G.Y. Lim, Sebastian Schäfer, Jing Quan Lim, Patrick Tan, Nicola Whiffin, Paul J.R. Barton, James S. Ware, Stuart A. Cook

    出版 2016
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  19. 19
    Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

    Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death 由 Roddy Walsh, Arnon Adler, Ahmad S. Amin, Emanuela Abiusi, Melanie Care, Hennie Bikker, Simona Amenta, Harriet Feilotter, Eline A. Nannenberg, Francesco Mazzarotto, Valentina Trevisan, John Garcia, Ray E. Hershberger, Marco Pérez, Amy C. Sturm, James S. Ware, Wojciech Zaręba, Valeria Novelli, Arthur A.M. Wilde, Michael H. Gollob

    出版 2021
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  20. 20
    Targeted therapies in genetic dilated and hypertrophic cardiomyopathies: from molecular mechanisms to therapeutic targets. A position paper from the Heart Failure Association (HFA) and the Working Group on Myocardial Function of the European Society of Cardiology (ESC)

    Targeted therapies in genetic dilated and hypertrophic cardiomyopathies: from molecular mechanisms to therapeutic targets. A position paper from the Heart Failure Association (HFA)... 由 Rudolf A. de Boer, Stéphane Heymans, Johannes Backs, Lucie Carrier, Andrew J.S. Coats, Stefanie Dimmeler, Thomas Eschenhagen, Gerasimos Filippatos, Lior Gepstein, Jean‐Sébastien Hulot, Ralph Knöll, Christian Kupatt, Wolfgang A. Linke, Christine E. Seidman, Carlo G. Tocchetti, Jolanda van der Velden, Roddy Walsh, Petar Seferović, Thomas Thum

    出版 2021
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