Heart Failure and Cardiac Disease

Open Access
Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All ThreeCLINICAL PERSPECTIVEExplaining the Distribution of Truncation Variants in Titin
Rahul C. Deo

Circulation: Cardiovascular Genetics. 2016;9:419-425, originally published September 13, 2016
https://doi.org/10.1161/CIRCGENETICS.116.001513

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Wrestling the GiantNew Approaches for Assessing Titin Variant Pathogenicity
Emmi Helle and Victoria N. Parikh

Circulation: Cardiovascular Genetics. 2016;9:392-394, originally published October 18, 2016
https://doi.org/10.1161/CIRCGENETICS.116.001594

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Open Access
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionCLINICAL PERSPECTIVE
Robert Hastings, Carin P. de Villiers, Charlotte Hooper, Liz Ormondroyd, Alistair Pagnamenta, Stefano Lise, Silvia Salatino, Samantha J.L. Knight, Jenny C. Taylor, Kate L. Thomson, Linda Arnold, Spyros D. Chatziefthimiou, Petr V. Konarev, Matthias Wilmanns, Elisabeth Ehler, Andrea Ghisleni, Mathias Gautel, Edward Blair, Hugh Watkins and Katja Gehmlich

Circulation: Cardiovascular Genetics. 2016;9:426-435, originally published September 13, 2016
https://doi.org/10.1161/CIRCGENETICS.116.001431

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Functional Promoter Variant in Desmocollin-2 Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy
Alex Hørby Christensen, Boris Schmitz, Claus B. Andersen, Henning Bundgaard, Stefan-Martin Brand and Jesper Hastrup Svendsen

Circulation: Cardiovascular Genetics. 2016;9:384-387, originally published August 16, 2016
https://doi.org/10.1161/CIRCGENETICS.116.001455

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Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart DiseaseCLINICAL PERSPECTIVE
Stephanie LaHaye, Don Corsmeier, Madhumita Basu, Jessica L. Bowman, Sara Fitzgerald-Butt, Gloria Zender, Kevin Bosse, Kim L. McBride, Peter White and Vidu Garg

Circulation: Cardiovascular Genetics. 2016;9:320-329, originally published July 14, 2016
https://doi.org/10.1161/CIRCGENETICS.115.001324

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Long Noncoding RNAs in the HeartThe Regulatory Roadmap of Cardiovascular Development and Disease
Katey J. Rayner and Peter P. Liu

Circulation: Cardiovascular Genetics. 2016;9:101-103, originally published April 19, 2016
https://doi.org/10.1161/CIRCGENETICS.116.001413

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SPARCling Study of a Drosophila Cardiomyopathy
Matthew J. Wolf

Circulation: Cardiovascular Genetics. 2016;9:104-106, originally published April 19, 2016
https://doi.org/10.1161/CIRCGENETICS.116.001394

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Open Access
SPARC–Dependent Cardiomyopathy in DrosophilaCLINICAL PERSPECTIVE
Paul S. Hartley, Khatereh Motamedchaboki, Rolf Bodmer and Karen Ocorr

Circulation: Cardiovascular Genetics. 2016;9:119-129, originally published February 2, 2016
https://doi.org/10.1161/CIRCGENETICS.115.001254

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Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac DeathCLINICAL PERSPECTIVE
Yuan Xue, Benedikt Schoser, Aliz R. Rao, Roberto Quadrelli, Alicia Vaglio, Verena Rupp, Christine Beichler, Stanley F. Nelson, Gudrun Schapacher-Tilp, Christian Windpassinger and William R. Wilcox

Circulation: Cardiovascular Genetics. 2016;9:130-135, originally published March 1, 2016
https://doi.org/10.1161/CIRCGENETICS.115.001193

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Genetic Risk Scores Predict Recurrence of Acute Coronary SyndromeCLINICAL PERSPECTIVE
Satu Vaara, Emmi Tikkanen, Olavi Parkkonen, Marja-Liisa Lokki, Samuli Ripatti, Markus Perola, Markku S. Nieminen and Juha Sinisalo

Circulation: Cardiovascular Genetics. 2016;9:172-178, originally published March 15, 2016
https://doi.org/10.1161/CIRCGENETICS.115.001271

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