Publications by authors named "Roddy Walsh"

44Publications

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Authors:
Roddy Walsh Najim Lahrouchi Rafik Tadros Florence Kyndt Charlotte Glinge Pieter G Postema Ahmad S Amin Eline A Nannenberg James S Ware Nicola Whiffin Francesco Mazzarotto Doris Škorić-Milosavljević Christian Krijger Elena Arbelo Dominique Babuty Hector Barajas-Martinez Britt M Beckmann Stéphane Bézieau J Martijn Bos Jeroen Breckpot Oscar Campuzano Silvia Castelletti Candan Celen Sebastian Clauss Anniek Corveleyn Lia Crotti Federica Dagradi Carlo de Asmundis Isabelle Denjoy Sven Dittmann Patrick T Ellinor Cristina Gil Ortuño Carla Giustetto Jean-Baptiste Gourraud Daisuke Hazeki Minoru Horie Taisuke Ishikawa Hideki Itoh Yoshiaki Kaneko Jørgen K Kanters Hiroki Kimoto Maria-Christina Kotta Ingrid P C Krapels Masahiko Kurabayashi Julieta Lazarte Antoine Leenhardt Bart L Loeys Catarina Lundin Takeru Makiyama Jacques Mansourati Raphaël P Martins Andrea Mazzanti Stellan Mörner Carlo Napolitano Kimie Ohkubo Michael Papadakis Boris Rudic Maria Sabater Molina Frédéric Sacher Hatice Sahin Georgia Sarquella-Brugada Regina Sebastiano Sanjay Sharma Mary N Sheppard Keiko Shimamoto M Benjamin Shoemaker Birgit Stallmeyer Johannes Steinfurt Yuji Tanaka David J Tester Keisuke Usuda Paul A van der Zwaag Sonia Van Dooren Lut Van Laer Annika Winbo Bo G Winkel Kenichiro Yamagata Sven Zumhagen Paul G A Volders Steven A Lubitz Charles Antzelevitch Pyotr G Platonov Katja E Odening Dan M Roden Jason D Roberts Jonathan R Skinner Jacob Tfelt-Hansen Maarten P van den Berg Morten S Olesen Pier D Lambiase Martin Borggrefe Kenshi Hayashi Annika Rydberg Tadashi Nakajima Masao Yoshinaga Johan B Saenen Stefan Kääb Pedro Brugada Tomas Robyns Daniela F Giachino Michael J Ackerman Ramon Brugada Josep Brugada Juan R Gimeno Can Hasdemir Pascale Guicheney Silvia G Priori Eric Schulze-Bahr Naomasa Makita Peter J Schwartz Wataru Shimizu Takeshi Aiba Jean-Jacques Schott Richard Redon Seiko Ohno Vincent Probst Elijah R Behr Julien Barc Connie R Bezzina

Genet Med 2020 Sep 7. Epub 2020 Sep 7.

Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1038/s41436-020-00946-5DOI Listing
September 2020

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.

Authors:
Najim Lahrouchi Rafik Tadros Lia Crotti Yuka Mizusawa Pieter G Postema Leander Beekman Roddy Walsh Kanae Hasegawa Julien Barc Marko Ernsting Kari L Turkowski Andrea Mazzanti Britt M Beckmann Keiko Shimamoto Ulla-Britt Diamant Yanushi D Wijeyeratne Yu Kucho Tomas Robyns Taisuke Ishikawa Elena Arbelo Michael Christiansen Annika Winbo Reza Jabbari Steven A Lubitz Johannes Steinfurt Boris Rudic Bart Loeys M Ben Shoemaker Peter E Weeke Ryan Pfeiffer Brianna Davies Antoine Andorin Nynke Hofman Federica Dagradi Matteo Pedrazzini David J Tester J Martijn Bos Georgia Sarquella-Brugada Óscar Campuzano Pyotr G Platonov Birgit Stallmeyer Sven Zumhagen Eline A Nannenberg Jan H Veldink Leonard H van den Berg Ammar Al-Chalabi Christopher E Shaw Pamela J Shaw Karen E Morrison Peter M Andersen Martina Müller-Nurasyid Daniele Cusi Cristina Barlassina Pilar Galan Mark Lathrop Markus Munter Thomas Werge Marta Ribasés Tin Aung Chiea C Khor Mineo Ozaki Peter Lichtner Thomas Meitinger J Peter van Tintelen Yvonne Hoedemaekers Isabelle Denjoy Antoine Leenhardt Carlo Napolitano Wataru Shimizu Jean-Jacques Schott Jean-Baptiste Gourraud Takeru Makiyama Seiko Ohno Hideki Itoh Andrew D Krahn Charles Antzelevitch Dan M Roden Johan Saenen Martin Borggrefe Katja E Odening Patrick T Ellinor Jacob Tfelt-Hansen Jonathan R Skinner Maarten P van den Berg Morten Salling Olesen Josep Brugada Ramón Brugada Naomasa Makita Jeroen Breckpot Masao Yoshinaga Elijah R Behr Annika Rydberg Takeshi Aiba Stefan Kääb Silvia G Priori Pascale Guicheney Hanno L Tan Christopher Newton-Cheh Michael J Ackerman Peter J Schwartz Eric Schulze-Bahr Vincent Probst Minoru Horie Arthur A Wilde Michael W T Tanck Connie R Bezzina

Circulation 2020 Jul 20;142(4):324-338. Epub 2020 May 20.

Amsterdam UMC, University of Amsterdam, Heart Center; Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, The Netherlands (N.L., R.T., Y.M., P.G.P., L.B., R.W., N.H., H.L.T., A.A.W., C.R.B.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.120.045956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7382531PMC
July 2020

When genetic burden reaches threshold.

Eur Heart J 2020 Oct;41(39):3849-3855

Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands.

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http://dx.doi.org/10.1093/eurheartj/ehaa269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7599032PMC
October 2020

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

J Am Heart Assoc 2020 Apr 18;9(8):e015473. Epub 2020 Apr 18.

Department of Clinical and Experimental Cardiology Heart Center Academic Medical Center Amsterdam the Netherlands.

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http://dx.doi.org/10.1161/JAHA.119.015473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7428545PMC
April 2020

Research in understudied populations offers local and global insights into the genetics of hypertrophic cardiomyopathy.

Pol Arch Intern Med 2020 02 27;130(2):76-78. Epub 2020 Feb 27.

Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands

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http://dx.doi.org/10.20452/pamw.15214DOI Listing
February 2020

Advantages and Perils of Clinical Whole-Exome and Whole-Genome Sequencing in Cardiomyopathy.

Cardiovasc Drugs Ther 2020 04;34(2):241-253

Department of Clinical and Experimental Cardiology, Heart Center, Academic Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1007/s10557-020-06948-4DOI Listing
April 2020

Predicting Risk for Adult-Onset Sudden Cardiac Death in the Population.

J Am Coll Cardiol 2019 11 11;74(21):2635-2637. Epub 2019 Nov 11.

Amsterdam University Medical Center, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands. Electronic address: https://twitter.com/NajimLahrouchi.

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http://dx.doi.org/10.1016/j.jacc.2019.09.024DOI Listing
November 2019

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.

Am J Hum Genet 2019 01;104(1):187-190

Cardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, SW7 2AZ, UK; Medical Research Council London Institute of Medical Sciences, Imperial College London, London, W12 0NN, UK; Program in Medical and Population Genetics, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323549PMC
January 2019

SCN5A variants in Brugada syndrome: True, true false, or false true.

J Cardiovasc Electrophysiol 2019 01 12;30(1):128-131. Epub 2018 Nov 12.

Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam.

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http://doi.wiley.com/10.1111/jce.13774
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http://dx.doi.org/10.1111/jce.13774DOI Listing
January 2019

Phenotype and Clinical Outcomes of Titin Cardiomyopathy.

J Am Coll Cardiol 2017 Oct;70(18):2264-2274

National Heart Lung Institute, Imperial College London, London, United Kingdom; Cardiovascular Research Centre, Royal Brompton Hospital, London, United Kingdom; Medical Research Council London Institute of Medical Sciences, Imperial College London, London, United Kingdom; National Heart Centre, Singapore; Duke-NUS Medical School, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2017.08.063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666113PMC
October 2017

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

Genet Med 2017 10 18;19(10):1151-1158. Epub 2017 May 18.

Cardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College London, London, UK.

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http://dx.doi.org/10.1038/gim.2017.26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563454PMC
October 2017

Issues and Challenges in Diagnostic Sequencing for Inherited Cardiac Conditions.

Clin Chem 2017 Jan 22;63(1):116-128. Epub 2016 Nov 22.

National Heart and Lung Institute, Imperial College London, London, UK;

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http://dx.doi.org/10.1373/clinchem.2016.254698DOI Listing
January 2017

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

Circ Cardiovasc Imaging 2016 08;9(8)

From the MRC Clinical Sciences Centre (CSC), London, United Kingdom (T.J.W.D., B.C., A.d.M., J.S.W., S.A.C., D.P.O.); Division of Experimental Medicine, Department of Medicine, Imperial College London, United Kingdom (S.C.); NIHR Royal Brompton Cardiovascular Biomedical Research Unit and the National Heart & Lung Institute at Imperial College London, United Kingdom (R.W., J.S.W., S.A.C.); National Heart Centre and Duke-National University of Singapore (S.A.C.).

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http://dx.doi.org/10.1161/CIRCIMAGING.116.004712DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4991346PMC
August 2016

Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?

Glob Cardiol Sci Pract 2015 3;2015(2):29. Epub 2015 Jul 3.

Qatar Cardiovascular Research Center (QCRC), Qatar Foundation, Doha, Qatar. ; NIHR Cardiovascular Biomedical Research Unit, Royal Brompton and Harefield NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.5339/gcsp.2015.29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614339PMC
November 2015

Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Med 2015 28;7(1). Epub 2015 Jan 28.

NIHR Biomedical Research Unit in Cardiovascular Disease at Royal Brompton and Harefield NHS Foundation Trust and Imperial College, London, UK ; National Heart and Lung Institute, Imperial College, London, UK ; National Heart Centre, Singapore, Singapore ; Duke-National University, Singapore, Singapore.

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http://genomemedicine.com/content/7/1/5
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http://dx.doi.org/10.1186/s13073-014-0120-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308924PMC
February 2015

NECTAR: a database of codon-centric missense variant annotations.

Nucleic Acids Res 2014 Jan 1;42(Database issue):D1013-9. Epub 2013 Dec 1.

NIHR Cardiovascular Biomedical Research Unit, Royal Brompton and Harefield NHS Foundation Trust and Imperial College London, London SW3 6NP, UK, National Heart and Lung Institute, Imperial College, London SW3 6LY, UK, National Heart Centre Singapore, Singapore 168752, Singapore and Cardiovascular & Metabolic Disorders, Duke National University of Singapore, Singapore 169857, Singapore.

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http://dx.doi.org/10.1093/nar/gkt1245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965063PMC
January 2014

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

J Med Genet 2014 Jan 17;51(1):35-44. Epub 2013 Oct 17.

NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton and Harefield NHS Trust, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2013-101917DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888601PMC
January 2014

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

Hum Mutat 2012 Aug 7;33(8):1188-1191. Epub 2012 Jun 7.

Medical Research Council Clinical Sciences Centre, Imperial College London, London W12 0NN, United Kingdom.

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http://dx.doi.org/10.1002/humu.22114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4640174PMC
August 2012