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Paul J.R. Barton
Researcher at National Institutes of Health
Publications - 210
Citations - 12470
Paul J.R. Barton is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Heart failure & Gene. The author has an hindex of 59, co-authored 203 publications receiving 10671 citations. Previous affiliations of Paul J.R. Barton include Imperial College London & University of Vermont.
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Journal ArticleDOI
Truncations of Titin Causing Dilated Cardiomyopathy
Daniel S. Herman,Lien Lam,Matthew R.G. Taylor,Libin Wang,Polakit Teekakirikul,Danos C. Christodoulou,Lauren Conner,Steven R. DePalma,Barbara McDonough,Elizabeth Sparks,Debbie Lin Teodorescu,Allison L. Cirino,Nicholas R. Banner,Dudley J. Pennell,Sharon L. Graw,Marco Merlo,Andrea Di Lenarda,Gianfranco Sinagra,J. Martijn Bos,Michael J. Ackerman,Richard N. Mitchell,Charles E. Murry,Neal K. Lakdawala,Carolyn Y. Ho,Paul J.R. Barton,Stuart A. Cook,Luisa Mestroni,Jonathan G. Seidman,Christine E. Seidman +28 more
TL;DR: Incorporation of sequencing approaches that detect TTN truncations into genetic testing for dilated cardiomyopathy should substantially increase test sensitivity, thereby allowing earlier diagnosis and therapeutic intervention for many patients with dilated heart disease.
Journal ArticleDOI
Alterations in sarcoplasmic reticulum gene expression in human heart failure. A possible mechanism for alterations in systolic and diastolic properties of the failing myocardium.
TL;DR: In this article, the authors determined the mRNA levels of sarcoplasmic reticulum Ca2+ transport proteins in failing human hearts from 17 cardiac transplant recipients with a diagnosis of dilated cardiomyopathy, primary pulmonary hypertension, or ischemic heart disease.
Journal ArticleDOI
Developmental regulation of myosin gene expression in mouse cardiac muscle.
TL;DR: A dynamic pattern of changes in the myosin phenotype in the prenatal mouse heart suggests that there are different regulatory mechanisms for cell-specific expression of myos in isoforms during cardiac development.
Journal ArticleDOI
The Translational Landscape of the Human Heart
Sebastiaan van Heesch,Franziska Witte,Valentin Schneider-Lunitz,Jana Felicitas Schulz,Eleonora Adami,Eleonora Adami,Allison Faber,Marieluise Kirchner,Henrike Maatz,Susanne Blachut,Clara-Louisa Sandmann,Masatoshi Kanda,Catherine L. Worth,Sebastian Schafer,Sebastian Schafer,Lorenzo Calviello,Lorenzo Calviello,Rhys Merriott,Giannino Patone,Oliver Hummel,Emanuel Wyler,Benedikt Obermayer,Michael Benedikt Mucke,Eric L. Lindberg,Franziska Trnka,Sebastian Memczak,Marcel Schilling,Leanne E. Felkin,Paul J.R. Barton,Nicholas M Quaife,Nicholas M Quaife,Konstantinos Vanezis,Konstantinos Vanezis,Sebastian Diecke,Sebastian Diecke,Masaya Mukai,Nancy Mah,Su-Jun Oh,Andreas Kurtz,Christoph Schramm,Dorothee Schwinge,Marcial Sebode,Magdalena Harakalova,Folkert W. Asselbergs,Folkert W. Asselbergs,Aryan Vink,Roel A. de Weger,Sivakumar Viswanathan,Anissa A. Widjaja,Anna Gärtner-Rommel,Hendrik Milting,Cris dos Remedios,Christoph Knosalla,Christoph Knosalla,Philipp Mertins,Markus Landthaler,Markus Landthaler,Martin Vingron,Wolfgang A. Linke,Jonathan G. Seidman,Christine E. Seidman,Christine E. Seidman,Christine E. Seidman,Nikolaus Rajewsky,Uwe Ohler,Uwe Ohler,Stuart A. Cook,Norbert Hubner +67 more
TL;DR: This work analyzes the translatomes of 80 human hearts to identify new translation events and quantify the effect of translational regulation, and shows extensive translational control of cardiac gene expression, which is orchestrated in a process-specific manner.
Journal ArticleDOI
Using high-resolution variant frequencies to empower clinical genome interpretation
Nicola Whiffin,Nicola Whiffin,Eric Vallabh Minikel,Eric Vallabh Minikel,Roddy Walsh,Roddy Walsh,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Konrad J. Karczewski,Konrad J. Karczewski,Alexander Y Ing,Alexander Y Ing,Paul J.R. Barton,Paul J.R. Barton,Birgit Funke,Birgit Funke,Stuart A. Cook,Daniel G. MacArthur,Daniel G. MacArthur,James S. Ware +19 more
TL;DR: A statistically robust framework for assessing whether a variant is “too common” to be causative for a Mendelian disorder of interest is outlined and precomputed allele frequency cutoffs for all variants in the ExAC dataset are presented.