{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T12:43:56Z","timestamp":1790599436429,"version":"4.1.0"},"reference-count":285,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2024,10,25]],"date-time":"2024-10-25T00:00:00Z","timestamp":1729814400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Dilated cardiomyopathy (DCM) is characterized by reduced systolic function and cardiac dilation. Cases without an identified secondary cause are classified as idiopathic dilated cardiomyopathy (IDC). Over the last 35 years, many cases of IDC have increasingly been recognized to be genetic in etiology with a core set of definitively causal genes in up to 40% of cases. While over 200 genes have been associated with DCM, the evidence supporting pathogenicity for most remains limited. Further, rapid advances in sequencing and bioinformatics have recently revealed a complex genetic spectrum ranging from monogenic to polygenic in DCM. These advances have also led to the discovery of causal and modifier genetic variants in secondary forms of DCM (e.g., alcohol-induced cardiomyopathy). Current guidelines recommend genetic counseling and screening, as well as endorsing a handful of genotype-specific therapies (e.g., device placement in LMNA cardiomyopathy). The future of genetics in DCM will likely involve polygenic risk scores, direct-to-consumer testing, and pharmacogenetics, requiring providers to have a thorough understanding of this rapidly developing field. Herein we outline three decades of genetics in DCM, summarize recent advances, and project possible future avenues for the field.<\/jats:p>","DOI":"10.3390\/ijms252111460","type":"journal-article","created":{"date-parts":[[2024,10,25]],"date-time":"2024-10-25T03:46:04Z","timestamp":1729827964000},"page":"11460","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Dilated Cardiomyopathy: A Genetic Journey from Past to Future"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2886-0232","authenticated-orcid":false,"given":"Noah A.","family":"Newman","sequence":"first","affiliation":[{"name":"Department of Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1491-1131","authenticated-orcid":false,"given":"Michael A.","family":"Burke","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Emory University School of Medicine, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2871","DOI":"10.1016\/j.jacc.2016.08.079","article-title":"Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy","volume":"68","author":"Burke","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1372","DOI":"10.1056\/NEJM198911163212005","article-title":"Mapping a Gene for Familial Hypertrophic Cardiomyopathy to Chromosome 14q1","volume":"321","author":"Jarcho","year":"1989","journal-title":"NEJM"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1016\/0092-8674(90)90274-I","article-title":"A Molecular Basis for Familial Hypertrophic Cardiomyopathy: A Beta Cardiac Myosin Heavy Chain Gene Missense Mutation","volume":"62","author":"Kass","year":"1990","journal-title":"Cell"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.cardfail.2018.03.004","article-title":"Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline","volume":"24","author":"Hershberger","year":"2018","journal-title":"J. Card. Fail."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.jacc.2013.04.044","article-title":"Impact of Genetics on the Clinical Management of Channelopathies","volume":"62","author":"Schwartz","year":"2013","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Micolonghi, C., Perrone, F., Fabiani, M., Caroselli, S., Savio, C., Pizzuti, A., Germani, A., Visco, V., Petrucci, S., and Rubattu, S. (2024). Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review. Int. J. Mol. Sci., 25.","DOI":"10.20944\/preprints202407.2000.v1"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1038\/gim.2016.90","article-title":"Reassessment of Mendelian Gene Pathogenicity Using 7,855 Cardiomyopathy Cases and 60,706 Reference Samples","volume":"19","author":"Walsh","year":"2017","journal-title":"Genet. Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1161\/CIRCULATIONAHA.120.053033","article-title":"Evidence-Based Assessment of Genes in Dilated Cardiomyopathy","volume":"144","author":"Jordan","year":"2021","journal-title":"Circulation"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"e002460","DOI":"10.1161\/CIRCGEN.119.002460","article-title":"Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes","volume":"12","author":"Ingles","year":"2019","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1161\/01.CIR.93.5.841","article-title":"Report of the 1995 World Health Organization\/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies","volume":"93","author":"Richardson","year":"1996","journal-title":"Circulation"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1056\/NEJMoa1911303","article-title":"Dapagliflozin in Patients with Heart Failure and Reduced Ejection Fraction","volume":"381","author":"McMurray","year":"2019","journal-title":"N. Engl. J. Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1056\/NEJMoa2022190","article-title":"Cardiovascular and Renal Outcomes with Empagliflozin in Heart Failure","volume":"383","author":"Packer","year":"2020","journal-title":"N. Engl. J. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1056\/NEJM199412083312307","article-title":"Idiopathic Dilated Cardiomyopathy","volume":"331","author":"Dec","year":"1994","journal-title":"N. Engl. J. Med."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1056\/NEJM200004133421502","article-title":"Underlying Causes and Long-Term Survival in Patients with Initially Unexplained Cardiomyopathy","volume":"342","author":"Felker","year":"2000","journal-title":"N. Engl. J. Med."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1136\/hrt.52.3.327","article-title":"Cardiomyopathy in Western Denmark","volume":"52","author":"Bagger","year":"1984","journal-title":"Br. Heart J."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1136\/hrt.54.2.153","article-title":"Prevalence of Overt Dilated Cardiomyopathy in Two Regions of England","volume":"54","author":"Williams","year":"1985","journal-title":"Br. Heart J."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1161\/01.CIR.80.3.564","article-title":"Epidemiology of Idiopathic Dilated and Hypertrophic Cardiomyopathy. A Population-based Study in Olmsted County, Minnesota, 1975\u20131984","volume":"80","author":"Codd","year":"1989","journal-title":"Circulation"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1038\/nrcardio.2013.105","article-title":"Dilated Cardiomyopathy: The Complexity of a Diverse Genetic Architecture","volume":"10","author":"Hershberger","year":"2013","journal-title":"Nat. Rev. Cardiol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1016\/j.ajhg.2023.08.003","article-title":"The Penetrance of Rare Variants in Cardiomyopathy-Associated Genes: A Cross-sectional Approach to Estimating Penetrance for Secondary Findings","volume":"110","author":"McGurk","year":"2023","journal-title":"Am. J. Hum. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"2050","DOI":"10.1002\/ejhf.3037","article-title":"Phenotype, Outcomes and Natural History of Early-Stage Non-Ischaemic Cardiomyopathy","volume":"25","author":"Hammersley","year":"2023","journal-title":"Eur. J. Heart Fail."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1002\/ejhf.1914","article-title":"Contemporary Survival Trends and Etiological Characterization in Non-Ischemic Dilated Cardiomyopathy","volume":"22","author":"Merlo","year":"2020","journal-title":"Eur. J. Heart Fail."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"e004682","DOI":"10.1161\/CIRCHEARTFAILURE.117.004682","article-title":"Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared with Dilated Cardiomyopathy","volume":"11","author":"Hazebroek","year":"2018","journal-title":"Circ. Heart Fail."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1682","DOI":"10.1016\/j.jacc.2021.08.039","article-title":"Association of Genetic Variants with Outcomes in Patients with Nonischemic Dilated Cardiomyopathy","volume":"78","author":"Ochoa","year":"2021","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1161\/CIRCGEN.120.003031","article-title":"Implications of Genetic Testing in Dilated Cardiomyopathy","volume":"13","author":"Verdonschot","year":"2020","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1002\/ejhf.16","article-title":"Long-Term Prognostic Impact of Therapeutic Strategies in Patients with Idiopathic Dilated Cardiomyopathy: Changing Mortality over the Last 30 Years","volume":"16","author":"Merlo","year":"2014","journal-title":"Eur. J. Heart Fail."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1056\/NEJM199201093260201","article-title":"The Frequency of Familial Dilated Cardiomyopathy in a Series of Patients with Idiopathic Dilated Cardiomyopathy","volume":"326","author":"Michels","year":"1992","journal-title":"N. Engl. J. Med."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"e006701","DOI":"10.1161\/CIRCHEARTFAILURE.119.006701","article-title":"Clinical and Genetic Investigations of 109 Index Patients with Dilated Cardiomyopathy and 445 of Their Relatives","volume":"13","author":"Hey","year":"2020","journal-title":"Circ. Heart Fail."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1016\/j.jacep.2020.04.025","article-title":"Prevalence and Prognostic Impact of Pathogenic Variants in Patients with Dilated Cardiomyopathy Referred for Ventricular Tachycardia Ablation","volume":"6","author":"Ebert","year":"2020","journal-title":"JACC Clin. Electrophysiol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/S0735-1097(99)00276-4","article-title":"Clinical Profiles of Four Large Pedigrees with Familial Dilated Cardiomyopathy: Preliminary Recommendations for Clinical Practice","volume":"34","author":"Crispell","year":"1999","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1698","DOI":"10.1161\/CIRCRESAHA.122.319835","article-title":"Arrhythmias as Presentation of Genetic Cardiomyopathy","volume":"130","author":"Lancaster","year":"2022","journal-title":"Circ. Res."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"108","DOI":"10.7326\/0003-4819-143-2-200507190-00009","article-title":"Echocardiographic Evaluation in Asymptomatic Relatives of Patients with Dilated Cardiomyopathy Reveals Preclinical Disease","volume":"143","author":"Mahon","year":"2005","journal-title":"Ann. Intern. Med."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1001\/jama.2021.24674","article-title":"Prevalence and Cumulative Risk of Familial Idiopathic Dilated Cardiomyopathy","volume":"327","author":"Huggins","year":"2022","journal-title":"JAMA"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1016\/j.jacc.2023.03.419","article-title":"Screening for Dilated Cardiomyopathy in At-Risk First-Degree Relatives","volume":"81","author":"Ni","year":"2023","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"e263","DOI":"10.1016\/j.jacc.2021.12.012","article-title":"2022 AHA\/ACC\/HFSA Guideline for the Management of Heart Failure: A Report of the American College of Cardiology\/American Heart Association Joint Committee on Clinical Practice Guidelines","volume":"79","author":"Heidenreich","year":"2022","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"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","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1126\/science.280.5364.750","article-title":"Actin Mutations in Dilated Cardiomyopathy, a Heritable Form of Heart Failure","volume":"280","author":"Olson","year":"1998","journal-title":"Science"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1688","DOI":"10.1056\/NEJM200012073432304","article-title":"Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy","volume":"343","author":"Kamisago","year":"2000","journal-title":"N. Engl. J. Med."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1093\/eurheartj\/ehi193","article-title":"Mutation Screening in Dilated Cardiomyopathy: Prominent Role of the Beta Myosin Heavy Chain Gene","volume":"26","author":"Villard","year":"2005","journal-title":"Eur. Heart J."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1016\/0092-8674(90)90273-H","article-title":"A Molecular Basis for Familial Hypertrophic Cardiomyopathy: An Alpha\/Beta Cardiac Myosin Heavy Chain Hybrid Gene","volume":"62","author":"Tanigawa","year":"1990","journal-title":"Cell"},{"key":"ref_40","doi-asserted-by":"crossref","unstructured":"Budde, B.S., Binner, P., Waldm\u00fcller, S., H\u00f6hne, W., Blankenfeldt, W., Hassfeld, S., Br\u00f6msen, J., Dermintzoglou, A., Wieczorek, M., and May, E. (2007). Noncompaction of the Ventricular Myocardium is Associated with a de novo Mutation in the Beta-Myosin Heavy Chain Gene. PLoS ONE, 2.","DOI":"10.1371\/journal.pone.0001362"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"2732","DOI":"10.1093\/eurheartj\/ehm429","article-title":"Cardiac Beta-Myosin Heavy Chain Defects in Two Families with Non-Compaction Cardiomyopathy: Linking Non-Compaction to Hypertrophic, Restrictive, and Dilated Cardiomyopathies","volume":"28","author":"Hoedemaekers","year":"2007","journal-title":"Eur. Heart J."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1056\/NEJM199504203321603","article-title":"Mutations in the Genes for Cardiac Troponin T and Alpha-Tropomyosin in Hypertrophic Cardiomyopathy","volume":"332","author":"Watkins","year":"1995","journal-title":"N. Engl. J. Med."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1016\/0092-8674(94)90054-X","article-title":"Alpha-Tropomyosin and Cardiac Troponin T Mutations Cause Familial Hypertrophic Cardiomyopathy: A Disease of the Sarcomere","volume":"77","author":"Thierfelder","year":"1994","journal-title":"Cell"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1016\/j.jacc.2004.08.027","article-title":"Severe Disease Expression of Cardiac Troponin C and T Mutations in Patients with Idiopathic Dilated Cardiomyopathy","volume":"44","author":"Mogensen","year":"2004","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1161\/CIRCRESAHA.109.196055","article-title":"Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy","volume":"105","author":"Carballo","year":"2009","journal-title":"Circ. Res."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1038\/ng0897-379","article-title":"Mutations in the Cardiac Troponin I Gene Associated with Hypertrophic Cardiomyopathy","volume":"16","author":"Kimura","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1002\/humu.1143","article-title":"First Mutation in Cardiac Troponin C, L29Q, in a Patient with Hypertrophic Cardiomyopathy","volume":"17","author":"Hoffmann","year":"2001","journal-title":"Hum. Mutat."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.yjmcc.2008.05.003","article-title":"Molecular and Functional Characterization of Novel Hypertrophic Cardiomyopathy Susceptibility Mutations in TNNC1-Encoded Troponin C","volume":"45","author":"Landstrom","year":"2008","journal-title":"J. Mol. Cell Cardiol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"31845","DOI":"10.1074\/jbc.M112.377713","article-title":"A Mutation in TNNC1-Encoded Cardiac Troponin C, TNNC1-A31S, Predisposes to Hypertrophic Cardiomyopathy and Ventricular Fibrillation","volume":"287","author":"Parvatiyar","year":"2012","journal-title":"J. Biol. Chem."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.jacc.2009.11.017","article-title":"Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation: The Distinctive Natural History of Sarcomeric Dilated Cardiomyopathy","volume":"55","author":"Lakdawala","year":"2010","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/S0006-291X(02)02374-4","article-title":"Novel Mutations in Sarcomeric Protein Genes in Dilated Cardiomyopathy","volume":"298","author":"Daehmlow","year":"2002","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1038\/ejhg.2009.34","article-title":"The Role of Sarcomere Gene Mutations in Patients with Idiopathic Dilated Cardiomyopathy","volume":"17","author":"Andersen","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1038\/ng1295-438","article-title":"Cardiac Myosin Binding Protein-C Gene Splice Acceptor Site Mutation Is Associated with Familial Hypertrophic Cardiomyopathy","volume":"11","author":"Bonne","year":"1995","journal-title":"Nat. Genet."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/ng1295-434","article-title":"Mutations in the Cardiac Myosin Binding Protein-C Gene on Chromosome 11 Cause Familial Hypertrophic Cardiomyopathy","volume":"11","author":"Watkins","year":"1995","journal-title":"Nat. Genet."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/ng815","article-title":"Mutations of TTN, Encoding the Giant Muscle Filament Titin, Cause Familial Dilated Cardiomyopathy","volume":"30","author":"Gerull","year":"2002","journal-title":"Nat. Genet."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1056\/NEJMoa1110186","article-title":"Truncations of Titin Causing Dilated Cardiomyopathy","volume":"366","author":"Herman","year":"2012","journal-title":"N. Engl. J. Med."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1161\/CIRCULATIONAHA.110.005405","article-title":"Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy-Overlap Syndromes","volume":"124","author":"Taylor","year":"2011","journal-title":"Circulation"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1086\/342380","article-title":"Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin","volume":"71","author":"Hackman","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1016\/j.nmd.2008.07.010","article-title":"Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)","volume":"18","author":"Hackman","year":"2008","journal-title":"Neuromuscul. Disord."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1695","DOI":"10.1093\/brain\/aws102","article-title":"Titin Mutation Segregates with Hereditary Myopathy with Early Respiratory Failure","volume":"135","author":"Pfeffer","year":"2012","journal-title":"Brain"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1002\/ana.21089","article-title":"C-Terminal Titin Deletions Cause a Novel Early-Onset Myopathy with Fatal Cardiomyopathy","volume":"61","author":"Carmignac","year":"2007","journal-title":"Ann. Neurol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"2379","DOI":"10.1111\/febs.13286","article-title":"Novel Familial Dilated Cardiomyopathy Mutation in MYL2 Affects the Structure and Function of Myosin Regulatory Light Chain","volume":"282","author":"Huang","year":"2015","journal-title":"FEBS J."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1038\/ng0596-63","article-title":"Mutations in Either the Essential or Regulatory Light Chains of Myosin Are Associated with a Rare Myopathy in Human Heart and Skeletal Muscle","volume":"13","author":"Poetter","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1093\/hmg\/dds022","article-title":"Molecular Basis for Clinical Heterogeneity in Inherited Cardiomyopathies Due to Myopalladin Mutations","volume":"21","author":"Purevjav","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1093\/cvr\/cvm015","article-title":"Mutations in the Z-Band Protein Myopalladin Gene and Idiopathic Dilated Cardiomyopathy","volume":"77","author":"Xu","year":"2008","journal-title":"Cardiovasc. Res."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1054\/jcaf.2001.26339","article-title":"Novel Lamin A\/C Mutations in Two Families with Dilated Cardiomyopathy and Conduction System Disease","volume":"7","author":"Jakobs","year":"2001","journal-title":"J. Card. Fail."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1715","DOI":"10.1056\/NEJM199912023412302","article-title":"Missense Mutations in the Rod Domain of the Lamin A\/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease","volume":"341","author":"Fatkin","year":"1999","journal-title":"N. Engl. J. Med."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1093\/eurheartj\/ehr451","article-title":"Mutations in the Lamin A\/C Gene Mimic Arrhythmogenic Right Ventricular Cardiomyopathy","volume":"33","author":"Quarta","year":"2012","journal-title":"Eur. Heart J."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/6799","article-title":"Mutations in the Gene Encoding Lamin A\/C Cause Autosomal Dominant Emery-Dreifuss Muscular Dystrophy","volume":"21","author":"Bonne","year":"1999","journal-title":"Nat. Genet."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1093\/hmg\/9.9.1453","article-title":"Identification of Mutations in the Gene Encoding Lamins A\/C in Autosomal Dominant Limb Girdle Muscular Dystrophy with Atrioventricular Conduction Disturbances (LGMD1B)","volume":"9","author":"Muchir","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/ana.21417","article-title":"De Novo LMNA Mutations Cause a New Form of Congenital Muscular Dystrophy","volume":"64","author":"Mbieleu","year":"2008","journal-title":"Ann. Neurol."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/mgg3.181","article-title":"Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death","volume":"4","author":"Boone","year":"2016","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.jacbts.2018.12.001","article-title":"Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2","volume":"4","author":"Abdelfatah","year":"2019","journal-title":"JACC Basic Transl. Sci."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"2440","DOI":"10.1016\/j.jacc.2016.09.927","article-title":"Truncating FLNC Mutations Are Associated with High-Risk Dilated and Arrhythmogenic Cardiomyopathies","volume":"68","author":"Cuenca","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1016\/j.jacep.2017.12.003","article-title":"Filamin C Truncation Mutations Are Associated with Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures","volume":"4","author":"Begay","year":"2018","journal-title":"JACC Clin. Electrophysiol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"5326","DOI":"10.1038\/ncomms6326","article-title":"Mutations in Filamin C Cause a New Form of Familial Hypertrophic Cardiomyopathy","volume":"5","author":"Coto","year":"2014","journal-title":"Nat. Commun."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"e001584","DOI":"10.1161\/CIRCGENETICS.116.001584","article-title":"Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients","volume":"10","author":"Lorca","year":"2017","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1086\/431959","article-title":"A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy","volume":"77","author":"Vorgerd","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1056\/NEJM199309233291304","article-title":"Brief Report: Deletion of the Dystrophin Muscle-Promoter Region Associated with X-linked Dilated Cardiomyopathy","volume":"329","author":"Muntoni","year":"1993","journal-title":"N. Engl. J. Med."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"2434","DOI":"10.1161\/01.CIR.95.10.2434","article-title":"Evidence for a Dystrophin Missense Mutation as a Cause of X-linked Dilated Cardiomyopathy","volume":"95","author":"Li","year":"1997","journal-title":"Circulation"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1126\/science.3055295","article-title":"Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy","volume":"242","author":"Malhotra","year":"1988","journal-title":"Science"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1038\/ng1294-323","article-title":"Identification of a Novel X-linked Gene Responsible for Emery-Dreifuss Muscular Dystrophy","volume":"8","author":"Bione","year":"1994","journal-title":"Nat. Genet."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"1859","DOI":"10.1093\/hmg\/4.10.1859","article-title":"Identification of New Mutations in the Emery-Dreifuss Muscular Dystrophy Gene and Evidence for Genetic Heterogeneity of the Disease","volume":"4","author":"Bione","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/1300","article-title":"Missense Mutations in Desmin Associated with Familial Cardiac and Skeletal Myopathy","volume":"19","author":"Goldfarb","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1161\/01.CIR.100.5.461","article-title":"Desmin Mutation Responsible for Idiopathic Dilated Cardiomyopathy","volume":"100","author":"Li","year":"1999","journal-title":"Circulation"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1056\/NEJM200003163421104","article-title":"Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene","volume":"342","author":"Dalakas","year":"2000","journal-title":"N. Engl. J. Med."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.yjmcc.2015.12.015","article-title":"Functional Characterization of the Novel DES Mutation p.L136P Associated with Dilated Cardiomyopathy Reveals a Dominant Filament Assembly Defect","volume":"91","author":"Brodehl","year":"2016","journal-title":"J. Mol. Cell Cardiol."},{"key":"ref_88","doi-asserted-by":"crossref","unstructured":"Kulikova, O., Brodehl, A., Kiseleva, A., Myasnikov, R., Meshkov, A., Stanasiuk, C., G\u00e4rtner, A., Divashuk, M., Sotnikova, E., and Koretskiy, S. (2021). The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy. Genes, 12.","DOI":"10.3390\/genes12010121"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1002\/humu.23747","article-title":"Noncompaction Cardiomyopathy Is Caused by a Novel In-Frame Desmin (DES) Deletion Mutation within the 1A Coiled-Coil Rod Segment Leading to a Severe Filament Assembly Defect","volume":"40","author":"Marakhonov","year":"2019","journal-title":"Hum. Mutat."},{"key":"ref_90","doi-asserted-by":"crossref","unstructured":"Brodehl, A., Hain, C., Flottmann, F., Ratnavadivel, S., Gaertner, A., Klauke, B., Kalinowski, J., K\u00f6rperich, H., Gummert, J., and Paluszkiewicz, L. (2021). The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3. Biomedicines, 9.","DOI":"10.3390\/biomedicines9101400"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1038\/ng0496-385","article-title":"A Novel X-linked Gene, G4.5. is Responsible for Barth Syndrome","volume":"12","author":"Bione","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1136\/jmg.2005.036657","article-title":"Mutation of DNAJC19, a Human Homologue of Yeast Inner Mitochondrial Membrane Co-Chaperones, Causes DCMA Syndrome, a Novel Autosomal Recessive Barth Syndrome-Like Condition","volume":"43","author":"Davey","year":"2006","journal-title":"J. Med. Genet."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1038\/pr.2012.92","article-title":"New Mutation of Mitochondrial DNAJC19 Causing Dilated and Noncompaction Cardiomyopathy, Anemia, Ataxia, and Male Genital Anomalies","volume":"72","author":"Ojala","year":"2012","journal-title":"Pediatr. Res."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1002\/humu.21603","article-title":"Dilated Cardiomyopathy-Associated BAG3 Mutations Impair Z-Disc Assembly and Enhance Sensitivity to Apoptosis in Cardiomyocytes","volume":"32","author":"Arimura","year":"2011","journal-title":"Hum. Mutat."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1093\/eurheartj\/ehr105","article-title":"A Genome-Wide Association Study Identifies Two Loci Associated with Heart Failure Due to Dilated Cardiomyopathy","volume":"32","author":"Villard","year":"2011","journal-title":"Eur. Heart J."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1016\/j.jacc.2009.05.038","article-title":"Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy","volume":"54","author":"Brauch","year":"2009","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"e005371","DOI":"10.1161\/CIRCHEARTFAILURE.118.005371","article-title":"Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy","volume":"12","author":"Parikh","year":"2019","journal-title":"Circ. Heart Fail."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1086\/519530","article-title":"Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy","volume":"81","author":"Kirk","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"ref_99","first-page":"e004404","article-title":"Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction","volume":"17","author":"Rasoul","year":"2024","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"1744","DOI":"10.1136\/hrt.2011.227967","article-title":"Desmosomal Protein Gene Mutations in Patients with Idiopathic Dilated Cardiomyopathy Undergoing Cardiac Transplantation: A Clinicopathological Study","volume":"97","author":"Syrris","year":"2011","journal-title":"Heart"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"2049","DOI":"10.1161\/01.CIR.97.20.2049","article-title":"Gene for Arrhythmogenic Right Ventricular Cardiomyopathy with Diffuse Nonepidermolytic Palmoplantar Keratoderma and Woolly Hair (Naxos Disease) Maps to 17q21","volume":"97","author":"Coonar","year":"1998","journal-title":"Circulation"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"2119","DOI":"10.1016\/S0140-6736(00)02379-5","article-title":"Identification of a Deletion in Plakoglobin in Arrhythmogenic Right Ventricular Cardiomyopathy with Palmoplantar Keratoderma and Woolly Hair (Naxos Disease)","volume":"355","author":"McKoy","year":"2000","journal-title":"Lancet"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1086\/521633","article-title":"A Novel Dominant Mutation in Plakoglobin Causes Arrhythmogenic Right Ventricular Cardiomyopathy","volume":"81","author":"Asimaki","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"2761","DOI":"10.1093\/hmg\/9.18.2761","article-title":"Recessive Mutation in Desmoplakin Disrupts Desmoplakin-Intermediate Filament Interactions and Causes Dilated Cardiomyopathy, Woolly Hair and Keratoderma","volume":"9","author":"Norgett","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1086\/344208","article-title":"Mutation in Human Desmoplakin Domain Binding to Plakoglobin Causes a Dominant Form of Arrhythmogenic Right Ventricular Cardiomyopathy","volume":"71","author":"Rampazzo","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/S0735-1097(03)00628-4","article-title":"A Recessive Mutation in Desmoplakin Causes Arrhythmogenic Right Ventricular Dysplasia, Skin Disorder, and Woolly Hair","volume":"42","author":"Alcalai","year":"2003","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1161\/CIRCGENETICS.110.937805","article-title":"Prevalence of Desmosomal Protein Gene Mutations in Patients with Dilated Cardiomyopathy","volume":"3","author":"Elliott","year":"2010","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1038\/ng1461","article-title":"Mutations in the Desmosomal Protein Plakophilin-2 Are Common in Arrhythmogenic Right Ventricular Cardiomyopathy","volume":"36","author":"Gerull","year":"2004","journal-title":"Nat. Genet."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1161\/CIRCULATIONAHA.105.561654","article-title":"Clinical Expression of Plakophilin-2 Mutations in Familial Arrhythmogenic Right Ventricular Cardiomyopathy","volume":"113","author":"Syrris","year":"2006","journal-title":"Circulation"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.1161\/CIRCULATIONAHA.105.568642","article-title":"Clinical features of arrhythmogenic right ventricular dysplasia\/cardiomyopathy associated with mutations in plakophilin-2","volume":"113","author":"Dalal","year":"2006","journal-title":"Circulation"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1161\/CIRCULATIONAHA.105.583674","article-title":"Mutations in Desmoglein-2 Gene Are Associated with Arrhythmogenic Right Ventricular Cardiomyopathy","volume":"113","author":"Pilichou","year":"2006","journal-title":"Circulation"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1086\/504393","article-title":"DSG2 Mutations Contribute to Arrhythmogenic Right Ventricular Dysplasia\/Cardiomyopathy","volume":"79","author":"Awad","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_113","doi-asserted-by":"crossref","unstructured":"Brodehl, A., Meshkov, A., Myasnikov, R., Kiseleva, A., Kulikova, O., Klauke, B., Sotnikova, E., Stanasiuk, C., Divashuk, M., and Pohl, G.M. (2021). Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22073786"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1086\/509044","article-title":"Mutant Desmocollin-2 Causes Arrhythmogenic Right Ventricular Cardiomyopathy","volume":"79","author":"Heuser","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1086\/509122","article-title":"Arrhythmogenic Right Ventricular Dysplasia\/Cardiomyopathy Associated with Mutations in the Desmosomal Gene Desmocollin-2","volume":"79","author":"Syrris","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.yjmcc.2020.03.006","article-title":"A Homozygous DSC2 Deletion Associated with Arrhythmogenic Cardiomyopathy Is Caused by Uniparental Isodisomy","volume":"141","author":"Brodehl","year":"2020","journal-title":"J. Mol. Cell Cardiol."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1016\/j.ajhg.2008.01.010","article-title":"Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene","volume":"82","author":"Merner","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1007\/s00439-013-1323-2","article-title":"TMEM43 Mutations Associated with Arrhythmogenic Right Ventricular Cardiomyopathy in Non-Newfoundland Populations","volume":"132","author":"Baskin","year":"2013","journal-title":"Hum. Genet."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1111\/j.1399-0004.2011.01623.x","article-title":"Mutation Analysis and Evaluation of the Cardiac Localization of TMEM43 in Arrhythmogenic Right Ventricular Cardiomyopathy","volume":"80","author":"Christensen","year":"2011","journal-title":"Clin. Genet."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.trsl.2019.02.004","article-title":"Mutations in ILK, Encoding Integrin-Linked Kinase, Are Associated with Arrhythmogenic Cardiomyopathy","volume":"208","author":"Brodehl","year":"2019","journal-title":"Transl. Res."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1172\/JCI17892","article-title":"Human Phospholamban Null Results in Lethal Dilated Cardiomyopathy Revealing a Critical Difference Between Mouse and Human","volume":"111","author":"Haghighi","year":"2003","journal-title":"J. Clin. Investig."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1073\/pnas.0510519103","article-title":"A Mutation in the Human Phospholamban Gene, Deleting Arginine 14, Results in Lethal, Hereditary Cardiomyopathy","volume":"103","author":"Haghighi","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1126\/science.1081578","article-title":"Dilated Cardiomyopathy and Heart Failure Caused by a Mutation in Phospholamban","volume":"299","author":"Schmitt","year":"2003","journal-title":"Science"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"2163","DOI":"10.1161\/01.CIR.0000144458.58660.BB","article-title":"SCN5A Mutation Associated with Dilated Cardiomyopathy, Conduction Disorder, and Arrhythmia","volume":"110","author":"McNair","year":"2004","journal-title":"Circulation"},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1001\/jama.293.4.447","article-title":"Sodium Channel Mutations and Susceptibility to Heart Failure and Atrial Fibrillation","volume":"293","author":"Olson","year":"2005","journal-title":"JAMA"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1172\/JCI118445","article-title":"Mapping a Cardiomyopathy Locus to Chromosome 3p22-p25","volume":"97","author":"Olson","year":"1996","journal-title":"J. Clin. Investig."},{"key":"ref_127","first-page":"3461","article-title":"Defining the Genetic Architecture of Hypertrophic Cardiomyopathy: Re-evaluating the Role of Non-Sarcomeric Genes","volume":"38","author":"Walsh","year":"2017","journal-title":"Eur. Heart J."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"1576","DOI":"10.1038\/s41436-018-0375-z","article-title":"Analysis of 51 Proposed Hypertrophic Cardiomyopathy Genes from Genome Sequencing Data in Sarcomere Negative Cases Has Negligible Diagnostic Yield","volume":"21","author":"Thomson","year":"2019","journal-title":"Genet. Med."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1093\/eurjhf\/hft013","article-title":"Genetic Analysis in 418 Index Patients with Idiopathic Dilated Cardiomyopathy: Overview of 10 Years\u2019 Experience","volume":"15","author":"Post","year":"2013","journal-title":"Eur. J. Heart Fail."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1038\/gim.2013.204","article-title":"The Landscape of Genetic Variation in Dilated Cardiomyopathy as Surveyed by Clinical DNA Sequencing","volume":"16","author":"Pugh","year":"2014","journal-title":"Genet. Med."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1111\/cge.13594","article-title":"FLNC Pathogenic Variants in Patients with Cardiomyopathies: Prevalence and Genotype-Phenotype Correlations","volume":"96","author":"Ader","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1161\/CIRCULATIONAHA.119.037661","article-title":"Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy","volume":"141","author":"Mazzarotto","year":"2020","journal-title":"Circulation"},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1038\/s41588-020-00762-2","article-title":"Shared Genetic Pathways Contribute to Risk of Hypertrophic and Dilated Cardiomyopathies with Opposite Directions of Effect","volume":"53","author":"Tadros","year":"2021","journal-title":"Nat. Genet."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1016\/j.cell.2016.04.002","article-title":"A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy","volume":"165","author":"Davis","year":"2016","journal-title":"Cell"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1101\/gad.1652708","article-title":"Nuclear Lamins: Major Factors in the Structural Organization and Function of the Nucleus and Chromatin","volume":"22","author":"Dechat","year":"2008","journal-title":"Genes. Dev."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1093\/eurheartj\/ehx596","article-title":"Lamin A\/C Cardiomyopathy: Young Onset, High Penetrance, and Frequent Need for Heart Transplantation","volume":"39","author":"Hasselberg","year":"2018","journal-title":"Eur. Heart J."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1016\/S0735-1097(02)01724-2","article-title":"Autosomal Dominant Dilated Cardiomyopathy with Atrioventricular Block: A Lamin A\/C Defect-Related Disease","volume":"39","author":"Arbustini","year":"2002","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"2299","DOI":"10.1016\/j.jacc.2016.08.058","article-title":"Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A\/C Mutation Carriers","volume":"68","author":"Kumar","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_139","first-page":"e272","article-title":"2017 AHA\/ACC\/HRS Guideline for Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: A Report of the American College of Cardiology\/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society","volume":"138","author":"Stevenson","year":"2018","journal-title":"Circulation"},{"key":"ref_140","first-page":"e382","article-title":"2018 ACC\/AHA\/HRS Guideline on the Evaluation and Management of Patients with Bradycardia and Cardiac Conduction Delay: A Report of the American College of Cardiology\/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society","volume":"140","author":"Kusumoto","year":"2019","journal-title":"Circulation"},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1161\/CIRCULATIONAHA.119.044061","article-title":"Loss of Filamin C Is Catastrophic for Heart Function","volume":"141","author":"Zhou","year":"2020","journal-title":"Circulation"},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1161\/CIRCRESAHA.120.317076","article-title":"Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation","volume":"129","author":"Agarwal","year":"2021","journal-title":"Circ. Res."},{"key":"ref_143","doi-asserted-by":"crossref","unstructured":"Gao, S., He, L., Lam, C.K., Taylor, M.R.G., Mestroni, L., Lombardi, R., and Chen, S.N. (2024). Filamin C Deficiency Impairs Sarcomere Stability and Activates Focal Adhesion Kinase through PDGFRA Signaling in Induced Pluripotent Stem Cell-Derived Cardiomyocytes. Cells, 13.","DOI":"10.3390\/cells13030278"},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"eabk0052","DOI":"10.1126\/sciadv.abk0052","article-title":"Activation of PDGFRA Signaling Contributes to Filamin C-Related Arrhythmogenic Cardiomyopathy","volume":"8","author":"Chen","year":"2022","journal-title":"Sci. Adv."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1111\/cge.13043","article-title":"Truncating Mutations on Myofibrillar Myopathies Causing Genes as Prevalent Molecular Explanations in Patients with Dilated Cardiomyopathy","volume":"92","author":"Janin","year":"2017","journal-title":"Clin. Genet."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"5064","DOI":"10.1093\/eurheartj\/ehad561","article-title":"Emery-Dreifuss Muscular Dystrophy Type 1 is Associated with a High Risk of Malignant Ventricular Arrhythmias and End-Stage Heart Failure","volume":"44","author":"Cannie","year":"2023","journal-title":"Eur. Heart J."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1016\/j.jchf.2023.10.010","article-title":"Skeletal Muscle Involvement in Patients with Truncations of Titin and Familial Dilated Cardiomyopathy","volume":"12","author":"Skriver","year":"2024","journal-title":"JACC Heart Fail."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"144148","DOI":"10.1016\/j.gene.2019.144148","article-title":"TAZ Encodes Tafazzin, a Transacylase Essential for Cardiolipin Formation and Central to the Etiology of Barth Syndrome","volume":"726","author":"Garlid","year":"2020","journal-title":"Gene"},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1002\/jimd.12441","article-title":"Phenotype and Pathology of Dilated Cardiomyopathy with Ataxia Syndrome in Children","volume":"45","author":"Machiraju","year":"2022","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_150","doi-asserted-by":"crossref","unstructured":"Brenner, C.M., Choudhary, M., McCormick, M.G., Cheung, D., Landesberg, G.P., Wang, J.F., Song, J., Martin, T.G., Cheung, J.Y., and Qu, H.Q. (2023). BAG3: Nature\u2019s Quintessential Multi-Functional Protein Functions as a Ubiquitous Intra-Cellular Glue. Cells, 12.","DOI":"10.3390\/cells12060937"},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"1697","DOI":"10.1002\/jcp.24615","article-title":"Decreased Levels of BAG3 in a Family with a Rare Variant and in Idiopathic Dilated Cardiomyopathy","volume":"229","author":"Feldman","year":"2014","journal-title":"J. Cell Physiol."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"2471","DOI":"10.1016\/j.jacc.2018.08.2181","article-title":"Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations","volume":"72","author":"Cuenca","year":"2018","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.cca.2006.06.035","article-title":"Cardiac Titin: Structure, Functions and Role in Disease","volume":"375","author":"LeWinter","year":"2007","journal-title":"Clin. Chim. Acta"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1242\/jcs.113.8.1405","article-title":"A Functional Knock-Out of Titin Results in Defective Myofibril Assembly","volume":"113","author":"Bartsch","year":"2000","journal-title":"J. Cell Sci."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"4322","DOI":"10.1242\/jcs.03198","article-title":"Targeted Homozygous Deletion of M-Band Titin in Cardiomyocytes Prevents Sarcomere Formation","volume":"119","author":"Musa","year":"2006","journal-title":"J. Cell Sci."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1016\/S0006-3495(94)80538-7","article-title":"Passive and Active Tension in Single Cardiac Myofibrils","volume":"67","author":"Linke","year":"1994","journal-title":"Biophys. J."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1161\/01.RES.79.3.619","article-title":"Titin Develops Restoring Force in Rat Cardiac Myocytes","volume":"79","author":"Helmes","year":"1996","journal-title":"Circ. Res."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"270ra276","DOI":"10.1126\/scitranslmed.3010134","article-title":"Integrated Allelic, Transcriptional, and Phenomic Dissection of the Cardiac Effects of Titin Truncations in Health and Disease","volume":"7","author":"Roberts","year":"2015","journal-title":"Sci. Transl. Med."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1038\/ng.3719","article-title":"Titin-Truncating Variants Affect Heart Function in Disease Cohorts and the General Population","volume":"49","author":"Schafer","year":"2017","journal-title":"Nat. Genet."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"2264","DOI":"10.1016\/j.jacc.2017.08.063","article-title":"Phenotype and Clinical Outcomes of Titin Cardiomyopathy","volume":"70","author":"Tayal","year":"2017","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.amjcard.2020.09.026","article-title":"Discovery of TITIN Gene Truncating Variant Mutations and 5-Year Outcomes in Patients with Nonischemic Dilated Cardiomyopathy","volume":"137","author":"Anderson","year":"2020","journal-title":"Am. J. Cardiol."},{"key":"ref_162","doi-asserted-by":"crossref","unstructured":"Xiao, L., Li, C., Sun, Y., Chen, Y., Wei, H., Hu, D., Yu, T., Li, X., Jin, L., and Shi, L. (2021). Clinical Significance of Variants in the TTN Gene in a Large Cohort of Patients with Sporadic Dilated Cardiomyopathy. Front. Cardiovasc. Med., 8.","DOI":"10.3389\/fcvm.2021.657689"},{"key":"ref_163","doi-asserted-by":"crossref","unstructured":"Heli\u00f6, K., Cicerchia, M., Hathaway, J., Tommiska, J., Huusko, J., Saarinen, I., Koskinen, L., Muona, M., Kyt\u00f6l\u00e4, V., and Djupsj\u00f6backa, J. (2023). Diagnostic Yield of Genetic Testing in a Multinational Heterogeneous Cohort of 2088 DCM Patients. Front. Cardiovasc. Med., 10.","DOI":"10.3389\/fcvm.2023.1254272"},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"e003389","DOI":"10.1161\/CIRCGEN.121.003389","article-title":"Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy","volume":"14","author":"Patel","year":"2021","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1161\/CIRCGENETICS.116.001431","article-title":"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 Noncompaction","volume":"9","author":"Hastings","year":"2016","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"1711","DOI":"10.1161\/CIRCULATIONAHA.122.062833","article-title":"Titin Missense Variants as a Cause of Familial Dilated Cardiomyopathy","volume":"147","author":"Lalaguna","year":"2023","journal-title":"Circulation"},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1126\/science.aaa5458","article-title":"Heart Disease: Titin Mutations in iPS Cells Define Sarcomere Insufficiency as a Cause of Dilated Cardiomyopathy","volume":"349","author":"Hinson","year":"2015","journal-title":"Science"},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1161\/JAHA.115.002645","article-title":"Role of Titin Missense Variants in Dilated Cardiomyopathy","volume":"4","author":"Begay","year":"2015","journal-title":"J. Am. Heart Assoc."},{"key":"ref_169","doi-asserted-by":"crossref","unstructured":"Akinrinade, O., Heli\u00f6, T., Lekanne Deprez, R.H., Jongbloed, J.D.H., Boven, L.G., van den Berg, M.P., Pinto, Y.M., Alastalo, T.P., Myllykangas, S., and Spaendonck-Zwarts, K.V. (2019). Relevance of Titin Missense and Non-Frameshifting Insertions\/Deletions Variants in Dilated Cardiomyopathy. Sci. Rep., 9.","DOI":"10.1038\/s41598-019-39911-x"},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1161\/CIRCGENETICS.111.000062","article-title":"Exome Sequencing and Genome-Wide Linkage Analysis in 17 Families Illustrate the Complex Contribution of TTN Truncating Variants to Dilated Cardiomyopathy","volume":"6","author":"Norton","year":"2013","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"4312","DOI":"10.1038\/s41467-023-39965-6","article-title":"Mislocalization of Pathogenic RBM20 Variants in Dilated Cardiomyopathy is Caused by Loss-of-Interaction with Transportin-3","volume":"14","author":"Kornienko","year":"2023","journal-title":"Nat. Commun."},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1038\/nm.2693","article-title":"RBM20, a Gene for Hereditary Cardiomyopathy, Regulates Titin Splicing","volume":"18","author":"Guo","year":"2012","journal-title":"Nat. Med."},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1093\/cvr\/cvw192","article-title":"A Mutation in the Glutamate-Rich Region of RNA-Binding Motif Protein 20 Causes Dilated Cardiomyopathy Through Missplicing of Titin and Impaired Frank-Starling Mechanism","volume":"112","author":"Beqqali","year":"2016","journal-title":"Cardiovasc. Res."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1016\/j.yjmcc.2008.02.272","article-title":"Mutation That Dramatically Alters Rat Titin Isoform Expression and Cardiomyocyte Passive Tension","volume":"44","author":"Greaser","year":"2008","journal-title":"J. Mol. Cell Cardiol."},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1093\/hmg\/ddv468","article-title":"Modeling Structural and Functional Deficiencies of RBM20 Familial Dilated Cardiomyopathy Using Human Induced Pluripotent Stem Cells","volume":"25","author":"Wyles","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1161\/CIRCGEN.123.004059","article-title":"Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants","volume":"16","author":"Cannie","year":"2023","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1161\/01.CIR.65.2.384","article-title":"Right Ventricular Dysplasia: A Report of 24 Adult Cases","volume":"65","author":"Marcus","year":"1982","journal-title":"Circulation"},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1056\/NEJMra1509267","article-title":"Arrhythmogenic Right Ventricular Cardiomyopathy","volume":"376","author":"Corrado","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"2317","DOI":"10.1016\/j.jacc.2010.12.036","article-title":"Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy\/Dysplasia-Associated Mutations From Background Genetic Noise","volume":"57","author":"Kapplinger","year":"2011","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1161\/CIRCGENETICS.114.001003","article-title":"Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia\/Cardiomyopathy Patients and Family Members","volume":"8","author":"Groeneweg","year":"2015","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1016\/j.jacc.2008.09.019","article-title":"Left-Dominant Arrhythmogenic Cardiomyopathy: An Under-Recognized Clinical Entity","volume":"52","author":"Syrris","year":"2008","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1093\/eurheartj\/ehu509","article-title":"Impact of Genotype on Clinical Course in Arrhythmogenic Right Ventricular Dysplasia\/Cardiomyopathy-Associated Mutation Carriers","volume":"36","author":"Bhonsale","year":"2015","journal-title":"Eur. Heart J."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1161\/CIRCEP.115.003213","article-title":"Characterization of the Left-Sided Substrate in Arrhythmogenic Right Ventricular Cardiomyopathy","volume":"8","author":"Berte","year":"2015","journal-title":"Circ. Arrhythm. Electrophysiol."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1136\/jmedgenet-2019-106394","article-title":"FLNC Truncations Cause Arrhythmogenic Right Ventricular Cardiomyopathy","volume":"57","author":"Brun","year":"2020","journal-title":"J. Med. Genet."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.ijcard.2019.09.048","article-title":"Filamin C Variants Are Associated with a Distinctive Clinical and Immunohistochemical Arrhythmogenic Cardiomyopathy Phenotype","volume":"307","author":"Hall","year":"2020","journal-title":"Int. J. Cardiol."},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"e301","DOI":"10.1016\/j.hrthm.2019.05.007","article-title":"2019 HRS Expert Consensus Statement on Evaluation, Risk Stratification, and Management of Arrhythmogenic Cardiomyopathy","volume":"16","author":"Towbin","year":"2019","journal-title":"Heart Rhythm."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/j.jacep.2018.03.006","article-title":"Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, and Cardiomyopathy","volume":"4","author":"Wilde","year":"2018","journal-title":"JACC Clin. Electrophysiol."},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1161\/CIRCULATIONAHA.104.532234","article-title":"Novel Mutation in Desmoplakin Causes Arrhythmogenic Left Ventricular Cardiomyopathy","volume":"112","author":"Norman","year":"2005","journal-title":"Circulation"},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.1161\/CIRCULATIONAHA.119.044934","article-title":"Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy","volume":"141","author":"Smith","year":"2020","journal-title":"Circulation"},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"ytae129","DOI":"10.1093\/ehjcr\/ytae129","article-title":"Recurrent Immunosuppressive-Responsive Myocarditis in a Patient with Desmoplakin Cardiomyopathy: A Case Report","volume":"8","author":"McColl","year":"2024","journal-title":"Eur. Heart J. Case Rep."},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1002\/(SICI)1097-0185(20000401)258:4<319::AID-AR1>3.0.CO;2-O","article-title":"Developmental Patterning of the Myocardium","volume":"258","author":"Sedmera","year":"2000","journal-title":"Anat. Rec."},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"2157","DOI":"10.1016\/j.jacc.2016.08.054","article-title":"Left Ventricular Noncompaction: Anatomical Phenotype or Distinct Cardiomyopathy?","volume":"68","author":"Yeap","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1016\/j.jacc.2020.08.030","article-title":"Association Between Left Ventricular Noncompaction and Vigorous Physical Activity","volume":"76","author":"Oliva","year":"2020","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1136\/heartjnl-2012-303418","article-title":"Increased Left Ventricular Trabeculation in Highly Trained Athletes: Do We Need More Stringent Criteria for the Diagnosis of Left Ventricular Non-Compaction in Athletes?","volume":"99","author":"Gati","year":"2013","journal-title":"Heart"},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1016\/j.ijcard.2016.08.272","article-title":"Prominent Left Ventricular Trabeculations in Competitive Athletes: A Proposal for Risk Stratification and Management","volume":"223","author":"Caselli","year":"2016","journal-title":"Int. J. Cardiol."},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1161\/CIRCULATIONAHA.114.008554","article-title":"Reversible De Novo Left Ventricular Trabeculations in Pregnant Women: Implications for the Diagnosis of Left Ventricular Noncompaction in Low-Risk Populations","volume":"130","author":"Gati","year":"2014","journal-title":"Circulation"},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.ijcard.2014.11.203","article-title":"Exercise-Induced Left-Ventricular Hypertrabeculation in Athlete\u2019s Heart","volume":"181","author":"Pelliccia","year":"2015","journal-title":"Int. J. Cardiol."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1016\/j.jcmg.2022.12.026","article-title":"Excessive Trabeculation of the Left Ventricle: JACC: Cardiovascular Imaging Expert Panel Paper","volume":"16","author":"Petersen","year":"2023","journal-title":"JACC Cardiovasc. Imaging"},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"1428","DOI":"10.1093\/eurheartj\/ehz317","article-title":"A Systematic Review and Meta-Analysis of the Prevalence of Left Ventricular Non-Compaction in Adults","volume":"41","author":"Ross","year":"2020","journal-title":"Eur. Heart J."},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1016\/j.amjcard.2006.04.021","article-title":"Different Types of Cardiomyopathy Associated with Isolated Ventricular Noncompaction","volume":"98","author":"Biagini","year":"2006","journal-title":"Am. J. Cardiol."},{"key":"ref_201","first-page":"e588","article-title":"Images in Cardiovascular Medicine: Overlapping Phenotypes\u2014Left Ventricular Noncompaction and Hypertrophic Cardiomyopathy","volume":"119","author":"Towbin","year":"2009","journal-title":"Circulation"},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1093\/eurheartj\/ehac718","article-title":"Hypertrophic Cardiomyopathy and Left Ventricular Non-Compaction Cardiomyopathy: Two in One","volume":"44","author":"Gabra","year":"2023","journal-title":"Eur. Heart J."},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1038\/nm.3046","article-title":"Mutations in the NOTCH Pathway Regulator MIB1 Cause Left Ventricular Noncompaction Cardiomyopathy","volume":"19","author":"Casanova","year":"2013","journal-title":"Nat. Med."},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1161\/CIRCULATIONAHA.121.058767","article-title":"A Human Hereditary Cardiomyopathy Shares a Genetic Substrate with Bicuspid Aortic Valve","volume":"147","author":"MacGrogan","year":"2023","journal-title":"Circulation"},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"2014","DOI":"10.1016\/j.jacc.2003.10.021","article-title":"Mutations in Cypher\/ZASP in Patients with Dilated Cardiomyopathy and Left Ventricular Non-Compaction","volume":"42","author":"Vatta","year":"2003","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.amjcard.2004.03.029","article-title":"Familial Dilated Cardiomyopathy and Isolated Left Ventricular Noncompaction Associated with Lamin A\/C Gene Mutations","volume":"94","author":"Monserrat","year":"2004","journal-title":"Am. J. Cardiol."},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"1953","DOI":"10.1093\/eurheartj\/ehm239","article-title":"Mutation in the Alpha-Cardiac Actin Gene Associated with Apical Hypertrophic Cardiomyopathy, Left Ventricular Non-Compaction, and Septal Defects","volume":"28","author":"Monserrat","year":"2007","journal-title":"Eur. Heart J."},{"key":"ref_208","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1161\/JAHA.117.008068","article-title":"Novel \u03b1-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation","volume":"7","author":"Frustaci","year":"2018","journal-title":"J. Am. Heart Assoc."},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"3449","DOI":"10.1093\/eurheartj\/ehx545","article-title":"Clinical Genetics and Outcome of Left Ventricular Non-Compaction Cardiomyopathy","volume":"38","author":"Haas","year":"2017","journal-title":"Eur. Heart J."},{"key":"ref_210","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/j.jacc.2017.12.019","article-title":"Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy","volume":"71","author":"Caliskan","year":"2018","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1007\/s00392-019-01465-3","article-title":"Clinical and Genetic Insights into Non-Compaction: A Meta-Analysis and Systematic Review on 7598 Individuals","volume":"108","author":"Kayvanpour","year":"2019","journal-title":"Clin. Res. Cardiol."},{"key":"ref_212","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1038\/s41436-020-01049-x","article-title":"Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies","volume":"23","author":"Mazzarotto","year":"2021","journal-title":"Genet. Med."},{"key":"ref_213","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/j.jacc.2021.06.016","article-title":"Clinical Risk Prediction in Patients with Left Ventricular Myocardial Noncompaction","volume":"78","author":"Casas","year":"2021","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.cardfail.2009.01.006","article-title":"Genetic Evaluation of Cardiomyopathy\u2014A Heart Failure Society of America Practice Guideline","volume":"15","author":"Hershberger","year":"2009","journal-title":"J. Card. Fail."},{"key":"ref_215","doi-asserted-by":"crossref","first-page":"3503","DOI":"10.1093\/eurheartj\/ehad194","article-title":"2023 ESC Guidelines for the Management of Cardiomyopathies","volume":"44","author":"Arbelo","year":"2023","journal-title":"Eur. Heart J."},{"key":"ref_216","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1172\/JCI200316336","article-title":"Idiopathic Restrictive Cardiomyopathy Is Part of the Clinical Expression of Cardiac Troponin I Mutations","volume":"111","author":"Mogensen","year":"2003","journal-title":"J. Clin. Investig."},{"key":"ref_217","doi-asserted-by":"crossref","first-page":"1478","DOI":"10.1136\/hrt.2007.134684","article-title":"Idiopathic Restrictive Cardiomyopathy in Children Is Caused by Mutations in Cardiac Sarcomere Protein Genes","volume":"94","author":"Kaski","year":"2008","journal-title":"Heart"},{"key":"ref_218","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.ijcard.2009.07.009","article-title":"The Role of Large Gene Deletions and Duplications in MYBPC3 and TNNT2 in Patients with Hypertrophic Cardiomyopathy","volume":"145","author":"Bagnall","year":"2010","journal-title":"Int. J. Cardiol."},{"key":"ref_219","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1111\/j.1399-0004.2008.01062.x","article-title":"Cardiac Troponin T Mutation in Familial Cardiomyopathy with Variable Remodeling and Restrictive Physiology","volume":"74","author":"Menon","year":"2008","journal-title":"Clin. Genet."},{"key":"ref_220","doi-asserted-by":"crossref","first-page":"e002824","DOI":"10.1161\/CIRCGEN.119.002824","article-title":"Novel Missense Variant in MYL2 Gene Associated with Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology","volume":"13","author":"Vio","year":"2020","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_221","doi-asserted-by":"crossref","first-page":"2419","DOI":"10.1016\/j.jacc.2007.02.061","article-title":"Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype","volume":"49","author":"Kubo","year":"2007","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_222","doi-asserted-by":"crossref","first-page":"1727","DOI":"10.1016\/j.amjcard.2009.07.057","article-title":"Prognostic Implications of the Doppler Restrictive Filling Pattern in Hypertrophic Cardiomyopathy","volume":"104","author":"Biagini","year":"2009","journal-title":"Am. J. Cardiol."},{"key":"ref_223","doi-asserted-by":"crossref","first-page":"2589","DOI":"10.1016\/j.jacc.2014.09.059","article-title":"Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated with Thin-Filament Gene Mutations","volume":"64","author":"Coppini","year":"2014","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_224","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1136\/hrt.55.1.114","article-title":"A Case of Fatal Peripartum Cardiomyopathy","volume":"55","author":"Honey","year":"1986","journal-title":"Br. Heart J."},{"key":"ref_225","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1056\/NEJMoa1505517","article-title":"Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies","volume":"374","author":"Ware","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"ref_226","doi-asserted-by":"crossref","first-page":"1852","DOI":"10.1161\/CIRCULATIONAHA.120.052395","article-title":"Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy","volume":"143","author":"Goli","year":"2021","journal-title":"Circulation"},{"key":"ref_227","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1161\/CIRCULATIONAHA.118.037934","article-title":"Genetic Variants Associated with Cancer Therapy-Induced Cardiomyopathy","volume":"140","author":"Kim","year":"2019","journal-title":"Circulation"},{"key":"ref_228","doi-asserted-by":"crossref","first-page":"2293","DOI":"10.1016\/j.jacc.2018.03.462","article-title":"Genetic Etiology for Alcohol-Induced Cardiac Toxicity","volume":"71","author":"Ware","year":"2018","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_229","doi-asserted-by":"crossref","first-page":"e022854","DOI":"10.1161\/JAHA.121.022854","article-title":"Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy","volume":"11","author":"Khan","year":"2022","journal-title":"J. Am. Heart Assoc."},{"key":"ref_230","doi-asserted-by":"crossref","first-page":"e007103","DOI":"10.1161\/CIRCHEARTFAILURE.120.007103","article-title":"Virome Sequencing in Patients with Myocarditis","volume":"13","author":"Heidecker","year":"2020","journal-title":"Circ. Heart Fail."},{"key":"ref_231","doi-asserted-by":"crossref","first-page":"3098","DOI":"10.1016\/j.jacc.2020.04.048","article-title":"Lymphocytic Myocarditis: A Genetically Predisposed Disease?","volume":"75","author":"Artico","year":"2020","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_232","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1016\/j.jacbts.2021.06.001","article-title":"Myopathic Cardiac Genotypes Increase Risk for Myocarditis","volume":"6","author":"Kontorovich","year":"2021","journal-title":"JACC Basic Transl. Sci."},{"key":"ref_233","doi-asserted-by":"crossref","first-page":"e003250","DOI":"10.1161\/CIRCGEN.120.003250","article-title":"Pathogenic Variants Associated with Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis","volume":"14","author":"Seidel","year":"2021","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_234","doi-asserted-by":"crossref","first-page":"e003408","DOI":"10.1161\/CIRCGEN.121.003408","article-title":"Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Myocarditis","volume":"15","author":"Tiron","year":"2022","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_235","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1161\/CIRCULATIONAHA.121.058457","article-title":"Genetic Architecture of Acute Myocarditis and the Overlap with Inherited Cardiomyopathy","volume":"146","author":"Lota","year":"2022","journal-title":"Circulation"},{"key":"ref_236","doi-asserted-by":"crossref","first-page":"e000929","DOI":"10.1136\/openhrt-2018-000929","article-title":"Heritability in Genetic Heart Disease: The Role of Genetic Background","volume":"6","author":"Jansweijer","year":"2019","journal-title":"Open Heart"},{"key":"ref_237","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.amjcard.2022.06.018","article-title":"Comparison of and Frequency of Mortality, Left Ventricular Assist Device Implantation, Ventricular Arrhythmias, and Heart Transplantation in Patients with Familial Versus Nonfamilial Idiopathic Dilated Cardiomyopathy","volume":"179","author":"Rao","year":"2022","journal-title":"Am. J. Cardiol."},{"key":"ref_238","doi-asserted-by":"crossref","first-page":"2186","DOI":"10.1038\/s41436-021-01255-1","article-title":"Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy","volume":"23","author":"Stroeks","year":"2021","journal-title":"Genet. Med."},{"key":"ref_239","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1016\/j.jacc.2015.07.023","article-title":"Prognostic Relevance of Gene-Environment Interactions in Patients with Dilated Cardiomyopathy: Applying the MOGE(S) Classification","volume":"66","author":"Hazebroek","year":"2015","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_240","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/ejhf.673","article-title":"Truncating Titin Mutations Are Associated with a Mild and Treatable Form of Dilated Cardiomyopathy","volume":"19","author":"Jansweijer","year":"2017","journal-title":"Eur. J. Heart Fail."},{"key":"ref_241","doi-asserted-by":"crossref","first-page":"1480","DOI":"10.1016\/j.jacc.2019.06.072","article-title":"Genetic Risk of Arrhythmic Phenotypes in Patients with Dilated Cardiomyopathy","volume":"74","author":"Gigli","year":"2019","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_242","doi-asserted-by":"crossref","first-page":"1704","DOI":"10.1136\/heartjnl-2016-311017","article-title":"Association Between Mutation Status and Left Ventricular Reverse Remodelling in Dilated Cardiomyopathy","volume":"103","author":"Stolfo","year":"2017","journal-title":"Heart"},{"key":"ref_243","doi-asserted-by":"crossref","first-page":"1250","DOI":"10.1016\/j.jacc.2008.06.044","article-title":"Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies","volume":"52","author":"Pasotti","year":"2008","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_244","doi-asserted-by":"crossref","first-page":"1640","DOI":"10.1016\/j.jacc.2024.02.036","article-title":"Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives","volume":"83","author":"Ochoa","year":"2024","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_245","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1001\/jamacardio.2021.1106","article-title":"Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C with Frequent Ventricular Arrhythmia and End-stage Heart Failure","volume":"6","author":"Akhtar","year":"2021","journal-title":"JAMA Cardiol."},{"key":"ref_246","doi-asserted-by":"crossref","first-page":"1600","DOI":"10.1161\/CIRCULATIONAHA.121.053521","article-title":"Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants","volume":"144","author":"Gigli","year":"2021","journal-title":"Circulation"},{"key":"ref_247","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1016\/j.jacc.2022.07.023","article-title":"Natural History of MYH7-Related Dilated Cardiomyopathy","volume":"80","author":"Ochoa","year":"2022","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_248","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/j.jchf.2023.07.007","article-title":"Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study","volume":"12","author":"Jansen","year":"2024","journal-title":"JACC Heart Fail."},{"key":"ref_249","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1161\/CIRCRESAHA.114.304383","article-title":"Two Strikes and You\u2019re Out: Gene-Gene Mutation Interactions in HCM","volume":"115","author":"Dorn","year":"2014","journal-title":"Circ. Res."},{"key":"ref_250","doi-asserted-by":"crossref","unstructured":"Ijaz, T., and Burke, M.A. (2021). BET Protein-Mediated Transcriptional Regulation in Heart Failure. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22116059"},{"key":"ref_251","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1161\/CIRCGENETICS.112.962928","article-title":"Population-Based Variation in Cardiomyopathy Genes","volume":"5","author":"Golbus","year":"2012","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_252","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1161\/CIRCGENETICS.111.961805","article-title":"Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era","volume":"5","author":"Norton","year":"2012","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_253","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1161\/CIRCULATIONAHA.121.058143","article-title":"Frequency, Penetrance, and Variable Expressivity of Dilated Cardiomyopathy-Associated Putative Pathogenic Gene Variants in UK Biobank Participants","volume":"146","author":"Shah","year":"2022","journal-title":"Circulation"},{"key":"ref_254","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1093\/eurheartj\/eht251","article-title":"A Genome-Wide Association Study Identifies 6p21 as Novel Risk Locus for Dilated Cardiomyopathy","volume":"35","author":"Meder","year":"2014","journal-title":"Eur. Heart J."},{"key":"ref_255","doi-asserted-by":"crossref","unstructured":"Esslinger, U., Garnier, S., Korniat, A., Proust, C., Kararigas, G., M\u00fcller-Nurasyid, M., Empana, J.P., Morley, M.P., Perret, C., and Stark, K. (2017). Exome-Wide Association Study Reveals Novel Susceptibility Genes to Sporadic Dilated Cardiomyopathy. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0172995"},{"key":"ref_256","doi-asserted-by":"crossref","first-page":"2000","DOI":"10.1093\/eurheartj\/ehab030","article-title":"Genome-Wide Association Analysis in Dilated Cardiomyopathy Reveals Two New Players in Systolic Heart Failure on Chromosomes 3p25.1 and 22q11.23","volume":"42","author":"Garnier","year":"2021","journal-title":"Eur. Heart J."},{"key":"ref_257","doi-asserted-by":"crossref","first-page":"1798","DOI":"10.1172\/JCI84840","article-title":"Large-Scale Genome-Wide Analysis Identifies Genetic Variants Associated with Cardiac Structure and Function","volume":"127","author":"Wild","year":"2017","journal-title":"J. Clin. Investig."},{"key":"ref_258","doi-asserted-by":"crossref","first-page":"2254","DOI":"10.1038\/s41467-020-15823-7","article-title":"Analysis of Cardiac Magnetic Resonance Imaging in 36,000 Individuals Yields Genetic Insights into Dilated Cardiomyopathy","volume":"11","author":"Pirruccello","year":"2020","journal-title":"Nat. Commun."},{"key":"ref_259","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1016\/j.hrthm.2022.03.1225","article-title":"European Heart Rhythm Association (EHRA)\/Heart Rhythm Society (HRS)\/Asia Pacific Heart Rhythm Society (APHRS)\/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases","volume":"19","author":"Wilde","year":"2022","journal-title":"Heart Rhythm."},{"key":"ref_260","doi-asserted-by":"crossref","first-page":"e000329","DOI":"10.1136\/openhrt-2015-000329","article-title":"Inpatient Detection of Cardiac-Inherited Disease: The Impact of Improving Family History Taking","volume":"3","author":"Donoghue","year":"2016","journal-title":"Open Heart"},{"key":"ref_261","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1111\/j.1751-7133.2008.08201.x","article-title":"Family History: An Essential Tool for Cardiovascular Genetic Medicine","volume":"14","author":"Morales","year":"2008","journal-title":"Congest. Heart Fail."},{"key":"ref_262","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1001\/jamacardio.2022.2455","article-title":"Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing","volume":"7","author":"Cirino","year":"2022","journal-title":"JAMA Cardiol."},{"key":"ref_263","doi-asserted-by":"crossref","first-page":"2815","DOI":"10.1038\/s41436-019-0582-2","article-title":"A Cost-Effectiveness Model of Genetic Testing and Periodical Clinical Screening for the Evaluation of Families with Dilated Cardiomyopathy","volume":"21","author":"Catchpool","year":"2019","journal-title":"Genet. Med."},{"key":"ref_264","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1038\/s41431-023-01394-w","article-title":"The Next Step Toward Personalized Recommendations for Genetic Cardiomyopathies","volume":"31","author":"Stroeks","year":"2023","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_265","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1038\/s41436-020-00972-3","article-title":"Disease-Specific Variant Pathogenicity Prediction Significantly Improves Variant Interpretation in Inherited Cardiac Conditions","volume":"23","author":"Zhang","year":"2021","journal-title":"Genet. Med."},{"key":"ref_266","first-page":"3","article-title":"Idiopathic Hypertrophic Subaortic Stenosis. I. A Description of the Disease Based Upon an Analysis of 64 Pateints","volume":"30","author":"Braunwald","year":"1964","journal-title":"Circulation"},{"key":"ref_267","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1101\/SQB.1974.039.01.056","article-title":"Physical Mapping of Temperature-Sensitive Mutations of Adenoviruses","volume":"39","author":"Grodzicker","year":"1974","journal-title":"Cold Spring Harb. Symp. Quant. Biol."},{"key":"ref_268","doi-asserted-by":"crossref","first-page":"5463","DOI":"10.1073\/pnas.74.12.5463","article-title":"DNA Sequencing with Chain-Terminating Inhibitors","volume":"74","author":"Sanger","year":"1977","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_269","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1038\/306234a0","article-title":"A Polymorphic DNA Marker Genetically Linked to Huntington\u2019s Disease","volume":"306","author":"Gusella","year":"1983","journal-title":"Nature"},{"key":"ref_270","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/0092-8674(87)90158-9","article-title":"A Genetic Linkage Map of the Human Genome","volume":"51","author":"Green","year":"1987","journal-title":"Cell"},{"key":"ref_271","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1126\/science.2181665","article-title":"The Human Genome Project: Past, Present, and Future","volume":"248","author":"Watson","year":"1990","journal-title":"Science"},{"key":"ref_272","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1038\/nature01626","article-title":"A Vision for the Future of Genomics Research","volume":"422","author":"Collins","year":"2003","journal-title":"Nature"},{"key":"ref_273","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/nature03959","article-title":"Genome Sequencing in Microfabricated High-Density Picolitre Reactors","volume":"437","author":"Margulies","year":"2005","journal-title":"Nature"},{"key":"ref_274","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/nature11690","article-title":"Analysis of 6,515 Exomes Reveals the Recent Origin of Most Human Protein-Coding Variants","volume":"493","author":"Fu","year":"2013","journal-title":"Nature"},{"key":"ref_275","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A Global Reference for Human Genetic Variation","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"key":"ref_276","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of Protein-Coding Genetic Variation in 60,706 Humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"ref_277","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The Mutational Constraint Spectrum Quantified From Variation in 141,456 Humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"ref_278","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1038\/s41586-021-03205-y","article-title":"Sequencing of 53,831 Diverse Genomes From the NHLBI TOPMed Program","volume":"590","author":"Taliun","year":"2021","journal-title":"Nature"},{"key":"ref_279","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1038\/s41588-020-00764-0","article-title":"Common Genetic Variants and Modifiable Risk Factors Underpin Hypertrophic Cardiomyopathy Susceptibility and Expressivity","volume":"53","author":"Harper","year":"2021","journal-title":"Nat. Genet."},{"key":"ref_280","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1038\/s41588-019-0379-x","article-title":"Clinical Use of Current Polygenic Risk Scores May Exacerbate Health Disparities","volume":"51","author":"Martin","year":"2019","journal-title":"Nat. Genet."},{"key":"ref_281","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1002\/ejhf.3138","article-title":"Impact of Vutrisiran on Exploratory Cardiac Parameters in Hereditary Transthyretin-Mediated Amyloidosis with Polyneuropathy","volume":"26","author":"Grogan","year":"2024","journal-title":"Eur. J. Heart Fail."},{"key":"ref_282","doi-asserted-by":"crossref","first-page":"eade1633","DOI":"10.1126\/scitranslmed.ade1633","article-title":"Precise Genomic Editing of Pathogenic Mutations in RBM20 Rescues Dilated Cardiomyopathy","volume":"14","author":"Nishiyama","year":"2022","journal-title":"Sci. Transl. Med."},{"key":"ref_283","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1016\/j.ymthe.2019.05.001","article-title":"Life-Long AAV-Mediated CRISPR Genome Editing in Dystrophic Heart Improves Cardiomyopathy without Causing Serious Lesions in mdx Mice","volume":"27","author":"Xu","year":"2019","journal-title":"Mol. Ther."},{"key":"ref_284","doi-asserted-by":"crossref","first-page":"S5","DOI":"10.1016\/j.cardfail.2023.11.010","article-title":"MyPeak-1: A Phase 1b Study to Evaluate Safety and Efficacy of TN-201, an Adeno-Associated Virus Serotype 9 (AAV9) Investigational Gene Therapy, in Adults with MYBPC3-Associated Hypertrophic Cardiomyopathy (HCM)","volume":"30","author":"Haroldson","year":"2024","journal-title":"J. Card. Fail."},{"key":"ref_285","doi-asserted-by":"crossref","first-page":"3714","DOI":"10.1038\/s41467-023-39352-1","article-title":"Striated Muscle-Specific Base Editing Enables Correction of Mutations Causing Dilated Cardiomyopathy","volume":"14","author":"Grosch","year":"2023","journal-title":"Nat. Commun."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/21\/11460\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T16:20:12Z","timestamp":1760113212000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/21\/11460"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,25]]},"references-count":285,"journal-issue":{"issue":"21","published-online":{"date-parts":[[2024,11]]}},"alternative-id":["ijms252111460"],"URL":"https:\/\/doi.org\/10.3390\/ijms252111460","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,25]]}}}