Publications by authors named "James S Ware"

72Publications

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

Founder Mutation in N-terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy.

Circ Genom Precis Med 2020 Sep 4. Epub 2020 Sep 4.

Department of Genetics, Harvard Medical School & Division of Cardiology & Howard Hughes Medical Institute, Brigham and Women's Hospital, Boston, MA.

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http://dx.doi.org/10.1161/CIRCGEN.120.002991DOI Listing
September 2020

What Is the Risk of Sudden Cardiac Arrest in Inherited Cardiac Conditions?

J Am Coll Cardiol 2020 Jun;75(21):2708-2710

National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom; Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1016/j.jacc.2020.04.010DOI Listing
June 2020

Genomic variant sharing: a position statement.

Wellcome Open Res 2019 5;4:22. Epub 2019 Feb 5.

Department of Clinical Genetics, University of Cambridge Addenbrooke's Hospital Cambridge, Cambridge, UK.

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http://dx.doi.org/10.12688/wellcomeopenres.15090.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913213PMC
February 2019

Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations.

JAMA 2019 Aug 30. Epub 2019 Aug 30.

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

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http://dx.doi.org/10.1001/jama.2019.12891DOI Listing
August 2019

Role of Targeted Therapy in Dilated Cardiomyopathy: The Challenging Road Toward a Personalized Approach.

J Am Heart Assoc 2019 06 1;8(11):e012514. Epub 2019 Jun 1.

Department of Cardiology CARIM Maastricht University Medical Centre Maastricht The Netherlands.

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http://dx.doi.org/10.1161/JAHA.119.012514DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585365PMC
June 2019

Sudden Death and Left Ventricular Involvement in Arrhythmogenic Cardiomyopathy.

Circulation 2019 04;139(15):1786-1797

Cardiology Clinical Academic Group, St George's University Hospitals' NHS Foundation Trust and Molecular and Clinical Sciences Institute, St George's University of London, United Kingdom (C.M., G.F., M.P., B.G., J.W., B.E., J.B., G.P.-W., E.P. C.P., A.M., A.A., M.T., S.S., E.R.B., M.N.S.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.037230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467560PMC
April 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

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

Role of titin in cardiomyopathy: from DNA variants to patient stratification.

Nat Rev Cardiol 2018 04 14;15(4):241-252. Epub 2017 Dec 14.

National Heart and Lung Institute, Imperial College London, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK.

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http://dx.doi.org/10.1038/nrcardio.2017.190DOI Listing
April 2018

Ajmaline blocks I and I without eliciting differences between Brugada syndrome patient and control human pluripotent stem cell-derived cardiac clusters.

Stem Cell Res 2017 12 7;25:233-244. Epub 2017 Nov 7.

William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2017.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5727153PMC
December 2017

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

ClinVar data parsing.

Wellcome Open Res 2017 23;2:33. Epub 2017 May 23.

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, 02114, USA.

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http://dx.doi.org/10.12688/wellcomeopenres.11640.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473414PMC
May 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

Analysis of protein-coding genetic variation in 60,706 humans.

Nature 2016 08;536(7616):285-91

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://www.nature.com/articles/nature19057
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http://dx.doi.org/10.1038/nature19057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018207PMC
August 2016

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

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

N Engl J Med 2016 Jan 6;374(3):233-41. Epub 2016 Jan 6.

From the Department of Genetics, Harvard Medical School (J.S.W., E.M., C.M.Y., C.E.S., J.G.S.), the Howard Hughes Medical Institute (C.E.S.), and the Cardiovascular Division, Brigham and Women's Hospital (J.S.W., E.M., C.E.S., J.G.S.) - all in Boston; the Cardiovascular Institute and the Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (J.L., T.D., T.P.C., Z.A.), the Heart and Vascular Institute, University of Pittsburgh Medical Center, Pittsburgh (I.H., J.P., K.H.-Y., J.G., D.M.M.), and Penn State Hershey Medical Center, Hershey (J.B.) - all in Pennsylvania; the National Institute for Health Research Royal Brompton Cardiovascular Biomedical Research Unit (J.S.W., F.M., S.K.P.) and the National Heart and Lung Institute (J.S.W., F.M., S.A.C., S.K.P.), Imperial College London, London; the Division of Cardiology, Department of Medicine, College of Physicians and Surgeons, Columbia University, New York (E.J.T.), and the University of Rochester, Rochester (J.A.) - both in New York; the Department of Cardiology and Angiology, Hannover Medical School, Hannover, Germany (D.H.-K.); the Department of Perinatology and Gynecology, the National Cerebral and Cardiovascular Center, Osaka, Japan (C.A.K.); the National Heart Center and Duke-National University of Singapore, Singapore (S.A.C.); the Intermountain Medical Center, Murray, Utah (R.A.); Vanderbilt University, Nashville (J.D.); Cleveland Clinic, Cleveland (E.H.); University of Southern California, Los Angeles (U.E.); McGill University and Jewish General Hospital, Montreal (R.S.), University of Calgary, Calgary, AB (A.K.), and University of Toronto, Toronto (P.L.) - all in Canada; University of Maryland, College Park (G.R.), and Johns Hopkins Hospital, Baltimore (I.S.W.) - both in Maryland; Morristown Hospital, Morristown (J.S.), and Newark Beth Israel Medical Center, Newark (M.J.Z.) - both in New Jersey; Truman Medical Center, University of Missouri, Kansas City (D.F.P.); and Wa

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http://dx.doi.org/10.1056/NEJMoa1505517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4797319PMC
January 2016

Interpreting de novo Variation in Human Disease Using denovolyzeR.

Curr Protoc Hum Genet 2015 Oct 6;87:7.25.1-7.25.15. Epub 2015 Oct 6.

Department of Genetics, Harvard Medical School, Boston, Massachusetts.

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http://doi.wiley.com/10.1002/0471142905.hg0725s87
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http://dx.doi.org/10.1002/0471142905.hg0725s87DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4606471PMC
October 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

Integrative genomics in cardiovascular medicine.

Cardiovasc Res 2013 Mar 27;97(4):623-30. Epub 2012 Sep 27.

MRC Clinical Sciences Centre, Imperial Centre for Translational and Experimental Medicine, Imperial College London, Du Cane Road, London, W12 0NN, UK.

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http://dx.doi.org/10.1093/cvr/cvs303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583255PMC
March 2013

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

Republished review: Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist.

Postgrad Med J 2012 Apr;88(1038):234-9

Molecular Cardiology, Medical Research Council Clinical Sciences Centre, Imperial College London, London, UK.

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http://dx.doi.org/10.1136/pgmj.2011.300742repDOI Listing
April 2012

Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist.

Heart 2012 Feb 29;98(4):276-81. Epub 2011 Nov 29.

Molecular Cardiology, Medical Research Council Clinical Sciences Centre, Imperial College London, London, UK.

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http://dx.doi.org/10.1136/heartjnl-2011-300742DOI Listing
February 2012