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Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, et al. 2011 ACCF\/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: A report of the American College of Cardiology Foundation\/American Heart Association Task Force on Practice Guidelines. <i>Circulation<\/i> 2011; 124: e783\u2013e831.","DOI":"10.1161\/CIR.0b013e318223e2bd"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, et al. 2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy: The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). <i>Eur Heart J<\/i> 2014; 35: 2733\u20132779.","DOI":"10.1093\/eurheartj\/ehu284"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Maron BJ, Maron MS, Semsarian C. Genetics of hypertrophic cardiomyopathy after 20 years: Clinical perspectives. <i>J Am Coll Cardiol<\/i> 2012; 60: 705\u2013715.","DOI":"10.1016\/j.jacc.2012.02.068"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, et al. A molecular basis for familial hypertrophic cardiomyopathy: A beta cardiac myosin heavy chain gene missense mutation. <i>Cell<\/i> 1990; 62: 999\u20131006.","DOI":"10.1016\/0092-8674(90)90274-I"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Kubo T, Hirota T, Baba Y, Ochi Y, Takahashi A, Yamasaki N, et al. Patients\u2019 characteristics and clinical course of hypertrophic cardiomyopathy in a regional Japanese cohort: Results from Kochi RYOMA Study. <i>Circ J<\/i> 2018; 82: 824\u2013830.","DOI":"10.1253\/circj.CJ-17-0845"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, 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. <i>Genet Med<\/i> 2015; 17: 405\u2013424.","DOI":"10.1038\/gim.2015.30"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J. Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. <i>Clin Genet<\/i> 2003; 4: 339\u2013349.","DOI":"10.1034\/j.1399-0004.2003.00151.x"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. M\u00f6rner S, Richard P, Kazzam E, Hellman U, Hainque B, Schwartz K, et al. Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. <i>J Mol Cell Cardiol<\/i> 2003; 35: 841\u2013849.","DOI":"10.1016\/S0022-2828(03)00146-9"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, et al. Hypertrophic cardiomyopathy: Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. <i>Circulation<\/i> 2003; 107: 2227\u20132232.","DOI":"10.1161\/01.CIR.0000066323.15244.54"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Olivotto I, Girolami F, Ackerman MJ, Nistri S, Bos JM, Zachara E, et al. Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. <i>Mayo Clin Proc<\/i> 2008; 83: 630\u2013638.","DOI":"10.1016\/S0025-6196(11)60890-2"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk PS, Da Costa A, et al. Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. <i>Eur J Med Genet<\/i> 2010; 53: 261\u2013267.","DOI":"10.1016\/j.ejmg.2010.07.007"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Brito D, Miltenberger-Miltenyi G, Vale Pereira S, Silva D, Diogo AN, Madeira H. Sarcomeric hypertrophic cardiomyopathy: Genetic profile in a Portuguese population. <i>Rev Port Cardiol<\/i> 2012; 31: 577\u2013587.","DOI":"10.1016\/j.repc.2011.12.020"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Otsuka H, Arimura T, Abe T, Kawai H, Aizawa Y, Kubo T, et al. Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. <i>Circ J<\/i> 2012; 76: 453\u2013461.","DOI":"10.1253\/circj.CJ-11-0876"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Liu W, Liu W, Hu D, Zhu T, Ma Z, Yang J, et al. Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. <i>Am J Cardiol<\/i> 2013; 112: 585\u2013589.","DOI":"10.1016\/j.amjcard.2013.04.021"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Li Q, Gruner C, Chan RH, Care M, Siminovitch K, Williams L, et al. Genotype-positive status in patients with hypertrophic cardiomyopathy is associated with higher rates of heart failure events. <i>Circ Cardiovasc Genet<\/i> 2014; 7: 416\u2013422.","DOI":"10.1161\/CIRCGENETICS.113.000331"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Ingles J, Burns C, Bagnall RD, Lam L, Yeates L, Sarina T, et al. Nonfamilial hypertrophic cardiomyopathy: Prevalence, natural history, and clinical implications. <i>Circ Cardiovasc Genet<\/i> 2017; 10: e001620.","DOI":"10.1161\/CIRCGENETICS.116.001620"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Ho CY, Day SM, Ashley EA, Michels M, Pereira AC, Jacoby D et al. Genotype and lifetime burden of disease in hypertrophic cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). <i>Circulation<\/i> 2018; 138: 1387\u20131398.","DOI":"10.1161\/CIRCULATIONAHA.117.033200"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Olivotto I, Girolami F, Sciagr\u00e0 R, Ackerman MJ, Sotgia B, Bos JM, et al. Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations. <i>J Am Coll Cardiol<\/i> 2011; 58: 839\u2013848.","DOI":"10.1016\/j.jacc.2011.05.018"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Olivotto I, Cecchi F, Poggesi C, Yacoub MH. 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