References
- Wilde AA, Behr ER. Genetic testing for inherited cardiac disease. Nat Rev Cardiol. 2013;10(10):571–583.
- Haas J, Frese KS, Peil B, et al. Atlas of the clinical genetics of human dilated cardiomyopathy. Eur Heart J. 2015;36(18):1123–1135a.
- van Rijsingen IA, Arbustini E, Elliott PM, et al. Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study. J Am Coll Cardiol. 2012;59(5):493–500.
- van Rijsingen IA, van der Zwaag PA, Groeneweg JA, et al. Outcome in phospholamban R14del carriers: results of a large multicentre cohort study. Circ Cardiovasc Genet. 2014;7(4):455–465.
- Robyns T, Kuiperi C, Breckpot J, et al. Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy. Eur J Hum Genet. 2017;25(12):1313–1323.
- Baylor College of Medicine. BCM-HGSC protocols for sequencing library construction. [accessed 2018 Mar 2018]. Available from: https://www.hgsc.bcm.edu/content/protocols-sequencing-library-construction
- Bainbridge MN, Wang M, Wu Y, et al. Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol. 2011;12(7):R68.
- Challis D, Yu J, Evani US, et al. An integrative variant analysis suite for whole exome next-generation sequencing data. BMC Bioinformatics. 2012;13(1):8.
- Reid JG, Carroll A, Veeraraghavan N, et al. Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. BMC Bioinformatics. 2014;15(1):30.
- Auton A, Brooks LD, Durbin RM, et al. A global reference for human genetic variation. Nature. 2015;526(7571):68–74.
- Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP), Seattle, WA. [accessed 2018 Feb]. Available from: http://evs.gs.washington.edu/EVS/
- Lek M, Karczewski KJ, Minikel EV, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285–291.
- van Spaendonck-Zwarts KY, van Rijsingen IA, van den Berg MP, et al. Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. Eur J Heart Fail. 2013;15(6):628–636.
- Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424.
- Jarvik GP, Browning BL. Consideration of cosegregation in the pathogenicity classification of genomic variants. Am J Hum Genet. 2016;98(6):1077–1081.
- Brauch KM, Karst ML, Herron KJ, et al. Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. J Am Coll Cardiol. 2009;54(10):930–941.
- Li D, Morales A, Gonzalez-Quintana J, et al. Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. Clin Transl Sci. 2010;3(3):90–97.
- Millat G, Bouvagnet P, Chevalier P, et al. Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. Eur J Med Genet. 2011;54(6):e570–5.
- Refaat MM, Lubitz SA, Makino S, et al. Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. Heart Rhythm. 2012;9(3):390–396.
- Guo W, Schafer S, Greaser ML, et al. RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. Nat Med. 2012;18(5):766–773.
- Maatz H, Jens M, Liss M, et al. RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing. J Clin Invest. 2014;124(8):3419–3430.
- van den Hoogenhof MMG, Beqqali A, Amin AS, et al. RBM20 mutations induce an arrhythmogenic dilated cardiomyopathy related to disturbed calcium handling. Circulation. 2018;138(13):1330–1342.
- Kayvanpour E, Sedaghat-Hamedani F, Amr A, et al. Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals. Clin Res Cardiol. 2017;106(2):127–139.
- Hershberger RE, Hedges DJ, Morales A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol. 2013;10(9):531–547.
- Verdonschot JAJ, Hazebroek MR, Derks KWJ, et al. Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias. Eur Heart J. 2018;39(10):864–873.