Genetics and Genomics of Single-Gene Cardiovascular Diseases

A map of human genome variation from population-scale sequencing.

The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877 · see citing works

Cpf1 Is a Single RNA-Guided Endonuclease of a Class 2 CRISPR-Cas System

Zetsche, B., Gootenberg, J. S., Abudayyeh, O. O., Slaymaker, I. M., Makarova, K. S., Essletzbichler, P., Volz, S. E., Joung, J., John van der, O. O. S. T., Regev, A., et al. (2015) · Cell · doi:10.1016/j.cell.2015.09.038 · Cited by 4,750 · see citing works

Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: Proposed Modification of the Task Force Criteria

Marcus, F. I., McKenna, W. J., Sherrill, D., Basso, C., Bauce, B., Bluemke, D. A., Calkins, H., Corrado, D., Cox, M. G. P. J., Daubert, J. P., et al. (2010) · Circulation · doi:10.1161/circulationaha.108.840827 · Cited by 2,676 · see citing works

Prevalence of Hypertrophic Cardiomyopathy in a General Population of Young Adults

Maron, B. J., Gardin, J. M., Flack, J. M., Gidding, S. S., Kurosaki, T., & Bild, D. E. (1995) · Circulation · doi:10.1161/01.cir.92.4.785 · Cited by 2,274 · see citing works

Rate of de novo mutations and the importance of father’s age to disease risk

Kong, A., Frigge, M. L., Masson, G., Besenbacher, S., Sulem, P., Magnusson, G., Gudjonsson, S. A., Sigurdsson, A., Jonasdottir, A., Jonasdottir, A., et al. (2012) · Nature · doi:10.1038/nature11396 · Cited by 2,134 · see citing works

Prescribing Personalized Nutrition for Cardiovascular Health: Are We Ready?

Juma, S., Imrhan, V., Vijayagopal, P., & Prasad, C. (2014) · Lifestyle Genomics · doi:10.1159/000370213 · Cited by 1,905 · see citing works

The complete genome of an individual by massively parallel DNA sequencing

Wheeler, D. A., Srinivasan, M., Egholm, M., Shen, Y., Chen, L., McGuire, A., He, W., Chen, Y.-J., Makhijani, V., Roth, G. T., et al. (2008) · Nature · doi:10.1038/nature06884 · Cited by 1,838 · see citing works

Sudden Death in Young Competitive Athletes: Clinical, Demographic, and Pathological Profiles

Maron, B. J. (1996) · JAMA · doi:10.1001/jama.1996.03540030033028 · Cited by 1,693 · see citing works

Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed Modification of the Task Force Criteria

Marcus, G. M., McKenna, W. J., Sherrill, D., Basso, C., Bauce, B., Bluemke, D. A., Calkins, H. G., Corrado, D., Cox, M. G. P. J., Daubert, J. P., et al. (2010) · European Heart Journal · doi:10.1093/eurheartj/ehq025 · Cited by 1,610 · see citing works

Truncations of titin causing dilated cardiomyopathy

Herman, D. S., Lam, L., Taylor, M. R. G., Wang, L., Teekakirikul, P., Christodoulou, D., Conner, L., DePalma, S. R., McDonough, B., Sparks, E., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1110186 · Cited by 1,485 · see citing works

Lamin A Truncation in Hutchinson-Gilford Progeria

Sandre‐Giovannoli, A. D., Bernard, R., Cau, P., Navarro, C. L., Amiel, J., Boccaccio, I., Lyonnet, S., Stewart, C. L., Münnich, A., Merrer, M. F. L., et al. (2003) · Science · doi:10.1126/science.1084125 · Cited by 1,472 · see citing works

Effect of Left Ventricular Outflow Tract Obstruction on Clinical Outcome in Hypertrophic Cardiomyopathy

Maron, M. S., Olivotto, I., Betocchi, S., Casey, S. A., Lesser, J. R., Losi, M. A., Cecchi, F., & Maron, B. J. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa021332 · Cited by 1,466 · see citing works

Enzyme Replacement Therapy in Fabry Disease

Schiffmann, R., Kopp, J. B., Austin, H. A., Sabnis, S. G., Moore, D. F., Weibel, T., Balow, J. E., & Brady, R. O. (2001) · JAMA · doi:10.1001/jama.285.21.2743 · Cited by 1,298 · see citing works

Hypertrophic Cardiomyopathy

Richard, P., Charron, P., Carrier, L., Ledeuil, C., Cheav, T., Pichereau, C., Benaiche, A., Isnard, R., Dubourg, O., Burban, M., et al. (2003) · Circulation · doi:10.1161/01.cir.0000066323.15244.54 · Cited by 1,273 · see citing works

A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD)

O'Mahony, C., Jichi, F., Pavlou, M., Monserrat, L., Anastasakis, A., Rapezzi, C., Biagini, E., Gimeno, J. R., Limongelli, G., McKenna, W. J., et al. (2014) · European Heart Journal · doi:10.1093/eurheartj/eht439 · Cited by 1,251 · see citing works

In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy

Nelson, C. E., Hakim, C. H., Ousterout, D. G., Thakore, P. I., Moreb, E. A., Rivera, R. M. C., Madhavan, S., Pan, X., Ran, F. A., Yan, W. X., et al. (2016) · Science · doi:10.1126/science.aad5143 · Cited by 1,144 · see citing works

Mapping and sequencing of structural variation from eight human genomes

Kidd, J. M., Cooper, G. M., Donahue, W. F., Hayden, H. S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F., et al. (2008) · Nature · doi:10.1038/nature06862 · Cited by 1,119 · see citing works

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)

McKoy, G., Protonotarios, N., Crosby, A. H., Tsatsopoulou, A., Anastasakis, A., Coonar, A. S., Norman, M. W., BABOONIAN, C., Jeffery, S., & McKenna, W. J. (2000) · The Lancet · doi:10.1016/s0140-6736(00)02379-5 · Cited by 1,096 · see citing works

Hippo Pathway Inhibits Wnt Signaling to Restrain Cardiomyocyte Proliferation and Heart Size

Heallen, T. R., Zhang, M., Wang, J., Bonilla-Claudio, M., Klysik, E., Johnson, R. L., & Martin, J. F. (2011) · Science · doi:10.1126/science.1199010 · Cited by 1,092 · see citing works

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

Roach, J. C., Glusman, G., Smit, A. F. A., Huff, C. D., Hubley, R., Shannon, P. T., Rowen, L., Pant, K. P., Goodman, N., Bamshad, M., et al. (2010) · Science · doi:10.1126/science.1186802 · Cited by 1,084 · see citing works

Prognostic Value of Quantitative Contrast-Enhanced Cardiovascular Magnetic Resonance for the Evaluation of Sudden Death Risk in Patients With Hypertrophic Cardiomyopathy

Chan, R. H. M., Maron, B. J., Olivotto, I., Pencina, M. J., Assenza, G. E., Haas, T. S., Lesser, J. R., Gruner, C., Crean, A. M., Rakowski, H., et al. (2014) · Circulation · doi:10.1161/circulationaha.113.007094 · Cited by 1,050 · see citing works

In vivo gene editing in dystrophic mouse muscle and muscle stem cells

Tabebordbar, M., Zhu, K., Cheng, J. K. W., Chew, W. L., Widrick, J. J., Yan, W. X., Maesner, C., Wu, E. Y., Xiao, R., Ran, F. A., et al. (2016) · Science · doi:10.1126/science.aad5177 · Cited by 1,046 · see citing works

Screening for Hypertrophic Cardiomyopathy in Young Athletes

Corrado, D., Basso, C., Schiavon, M., & Thiene, G. (1998) · New England Journal of Medicine · doi:10.1056/nejm199808063390602 · Cited by 994 · see citing works

Spectrum of Clinicopathologic Manifestations of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: A Multicenter Study

Corrado, D., Basso, C., Thiene, G., McKenna, W. J., Davies, M. J., Fontaliran, F., Nava, A., Silvestri, F., Blomstrom-Lundqvist, C., Wlodarska, E. K., et al. (1997) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(97)00332-x · Cited by 978 · see citing works

Sudden death in hypertrophic cardiomyopathy: identification of high risk patients

Elliot, P. M., Poloniecki, J. D., Dickie, S., Sharma, S., Monserrat, L., Varnava, A. M., Mahon, N., & McKenna, W. J. (2000) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(00)01003-2 · Cited by 976 · see citing works

Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy

Long, C., Amoasii, L., Mireault, A. A., McAnally, J., Li, H. Z., Sanchez‐Ortiz, E., Bhattacharyya, S., Shelton, J. M., Bassel‐Duby, R., & Olson, E. N. (2015) · Science · doi:10.1126/science.aad5725 · Cited by 941 · see citing works

The diploid genome sequence of an Asian individual

Wang, J., Wang, W., Li, R., Li, Y., Tian, G., Goodman, L., Fan, W., Zhang, J., Li, J., Zhang, J., et al. (2008) · Nature · doi:10.1038/nature07484 · Cited by 924 · see citing works

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

Bagnall, R. D., Weintraub, R. G., Ingles, J., Duflou, J. A., Yeates, L., Lam, L., Davis, A. M., Thompson, T. N., Connell, V., Wallace, J., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1510687 · Cited by 847 · see citing works

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C. T., McDermott, D. A., Lerman, B. B., Markowitz, S., Ellinor, P. T., MacRae, C. A., et al. (2004) · Nature Genetics · doi:10.1038/ng1461 · Cited by 821 · see citing works

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

Norgett, E. E. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.18.2761 · Cited by 815 · see citing works

Prevention of muscular dystrophy in mice by CRISPR/Cas9–mediated editing of germline DNA

Long, C., McAnally, J. R., Shelton, J. M., Mireault, A. A., Bassel-Duby, R., & Olson, E. N. (2014) · Science · doi:10.1126/science.1254445 · Cited by 720 · see citing works

The Frequency of Familial Dilated Cardiomyopathy in a Series of Patients with Idiopathic Dilated Cardiomyopathy

Michels, V. V., Moll, P. P., Miller, F. A., Tajik, A. J., Chu, J. S., Driscoll, D. J. O., Burnett, J. C. J., Rodeheffer, R. J., Chesebro, J. H., & Tazelaar, H. D. (1992) · New England Journal of Medicine · doi:10.1056/nejm199201093260201 · Cited by 695 · see citing works

Identification of a gene responsible for familial Wolff-Parkinson-White syndrome

Gollob, M. H., Green, M. S., Tang, A. S.-L., Gollob, T., Karibe, A., Hassan, A.-S., Ahmad, F., Lozado, R., Shah, G., Fananapazir, L., et al. (2001) · New England Journal of Medicine · doi:10.1056/nejm200106143442403 · Cited by 671 · see citing works

Mutation in Human Desmoplakin Domain Binding to Plakoglobin Causes a Dominant Form of Arrhythmogenic Right Ventricular Cardiomyopathy

Rampazzo, A., Nava, A. K., Malacrida, S., Beffagna, G., Bauce, B., Rossi, V., Zimbello, R., Simionati, B., Basso, C., Thiene, G., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/344208 · Cited by 665 · see citing works

Hypertrophic Cardiomyopathy

Maron, B. J., Ommen, S. R., Semsarian, C., Spirito, P., Olivotto, I., & Maron, M. S. (2014) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2014.05.003 · Cited by 652 · see citing works

Glycogen Storage Diseases Presenting as Hypertrophic Cardiomyopathy

Arad, M., Maron, B. J., Gorham, J., Johnson, W. H., Saul, J. P., Pérez‐Atayde, A. R., Spirito, P., Wright, G. B., Kanter, R. J., Seidman, C. E., et al. (2005) · New England Journal of Medicine · doi:10.1056/nejmoa033349 · Cited by 647 · see citing works

Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984.

Codd, M., SUGRUE, D. D., Gersh, B. J., & Melton, L. J. (1989) · Circulation · doi:10.1161/01.cir.80.3.564 · Cited by 638 · see citing works

Suppression of canonical Wnt/ -catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy

Garcia-Gras, E. (2006) · Journal of Clinical Investigation · doi:10.1172/jci27751 · Cited by 623 · see citing works

Actin Mutations in Dilated Cardiomyopathy, a Heritable Form of Heart Failure

Olson, T. M., Michels, V. V., Thibodeau, S. N., Tai, Y.-S., & Keating, M. T. (1998) · Science · doi:10.1126/science.280.5364.750 · Cited by 621 · see citing works

Tissue Doppler Imaging Consistently Detects Myocardial Abnormalities in Patients With Hypertrophic Cardiomyopathy and Provides a Novel Means for an Early Diagnosis Before and Independently of Hypertrophy

Nagueh, S. F., Bachinski, L. L., Meyer, D., Hill, R., Zoghbi, W. A., Tam, J. W., Quiñones, M. A., Roberts, R., & Marian, A. J. (2001) · Circulation · doi:10.1161/01.cir.104.2.128 · Cited by 615 · see citing works

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

Guo, W., Schafer, S., Greaser, M. L., Radke, M. H., Liss, M., Govindarajan, T., Maatz, H., Schulz, H., Li, S., Parrish, A. M., et al. (2012) · Nature Medicine · doi:10.1038/nm.2693 · Cited by 589 · see citing works

Mutations in Desmoglein-2 Gene Are Associated With Arrhythmogenic Right Ventricular Cardiomyopathy

Pilichou, K., Nava, A. K., Basso, C., Beffagna, G., Bauce, B., Lorenzon, A., Frigo, G., Vettori, A., Valente, M., Towbin, J. A., et al. (2006) · Circulation · doi:10.1161/circulationaha.105.583674 · Cited by 574 · see citing works

Mutations in the gamma2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis

Blair, E. M. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.11.1215 · Cited by 530 · see citing works

Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

Merner, N. D., Hodgkinson, K. A., Haywood, A. F. M., Connors, S. P., French, V. M., Drenckhahn, J., Kupprion, C., Ramadanova, K., Thierfelder, L., McKenna, W. J., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.01.010 · Cited by 511 · see citing works

Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members

Groeneweg, J. A., Bhonsale, A., James, C. A., Riele, A. S. J. M. T., Dooijes, D., Tichnell, C., Murray, B. A., Wiesfeld, A. C. P., Sawant, A. C., Kassamali, B., et al. (2015) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.114.001003 · Cited by 492 · see citing works

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

Roberts, A. M., Ware, J. S., Herman, D. S., Schäfer, S., Baksi, J. A., Bick, A. G., Buchan, R. J., Walsh, R., John, S., Wilkinson, S., et al. (2015) · Science Translational Medicine · doi:10.1126/scitranslmed.3010134 · Cited by 488 · see citing works

Genetic mutations and mechanisms in dilated cardiomyopathy

McNally, E. M., Golbus, J. R., & Puckelwartz, M. J. (2013) · Journal of Clinical Investigation · doi:10.1172/jci62862 · Cited by 477 · see citing works

Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy

Ousterout, D. G., Kabadi, A. M., Thakore, P. I., Majoros, W. H., Reddy, T. E., & Gersbach, C. A. (2015) · Nature Communications · doi:10.1038/ncomms7244 · Cited by 470 · see citing works

Phospholamban R14del Mutation in Patients Diagnosed with Dilated Cardiomyopathy or Arrhythmogenic Right Ventricular Cardiomyopathy: Evidence Supporting the Concept of Arrhythmogenic Cardiomyopathy

van der Zwaag, P. A., van Rijsingen, I. A. W., Asimaki, A., Jongbloed, J. D. H., van Veldhuisen, D. J., Wiesfeld, A. C. P., Cox, M. G. P. J., van Lochem, L. T., de Boer, R. A., Hofstra, R. M. W., et al. (2012) · European Journal of Heart Failure · doi:10.1093/eurjhf/hfs119 · Cited by 466 · see citing works

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy

Arad, M., Benson, D. W., Pérez‐Atayde, A. R., McKenna, W. J., Sparks, E. A., Kanter, R. J., McGarry, K., Seidman, J. G., & Seidman, C. E. (2002) · Journal of Clinical Investigation · doi:10.1172/jci14571 · Cited by 460 · see citing works

A New Diagnostic Test for Arrhythmogenic Right Ventricular Cardiomyopathy

Asimaki, A., Tandri, H., Huang, H., Halushka, M. K., Gautam, S., Basso, C., Thiene, G., Tsatsopoulou, A., Protonotarios, N., McKenna, W. J., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0808138 · Cited by 456 · see citing works

Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene

Dalakas, M. C., Park, K., Semino‐Mora, C., Lee, H. S., Sivakumar, K., & Goldfarb, L. G. (2000) · New England Journal of Medicine · doi:10.1056/nejm200003163421104 · Cited by 451 · see citing works

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy

Arad, M., Benson, D. W., Pérez‐Atayde, A. R., McKenna, W. J., Sparks, E. A., Kanter, R. J., McGarry, K., Seidman, J. G., & Seidman, C. E. (2002) · Journal of Clinical Investigation · doi:10.1172/jci0214571 · Cited by 441 · see citing works

Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute Workshop)

Manolio, T. A., Baughman, K. L., Rodeheffer, R. R., Pearson, T. A., Bristow, J. D., Michels, V. V., Abelmann, W. H., & Harlan, W. R. (1992) · The American Journal of Cardiology · doi:10.1016/0002-9149(92)90901-a · Cited by 432 · see citing works

Regulatory mutations in transforming growth factor-?3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1

Beffagna, G., Occhi, G., Nava, A. K., Vitiello, L., Ditadi, A., Basso, C., Bauce, B., Carraro, G., Thiene, G., & Towbin, J. A. (2004) · Cardiovascular Research · doi:10.1016/j.cardiores.2004.10.005 · Cited by 423 · see citing works

Angiotensin-converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death

Marian, A. J. (1993) · The Lancet · doi:10.1016/0140-6736(93)92064-z · Cited by 411 · see citing works

Expanding the Biologist’s Toolkit with CRISPR-Cas9

Sternberg, S. H., & Doudna, J. A. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.02.032 · Cited by 398 · see citing works

Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey

Linhart, A., Kampmann, C., Zamorano, J. L., Sunder–Plassmann, G., Beck, M., Mehta, A. B., Elliot, P. M., & on behalf of European FOS Investigators (2007) · European Heart Journal · doi:10.1093/eurheartj/ehm153 · Cited by 396 · see citing works

Improvement of Cardiac Function During Enzyme Replacement Therapy in Patients With Fabry Disease

Weidemann, F., Breunig, F., Beer, M., Sandstede, J. J. W., Turschner, O., Voelker, W., Ertl, G., Knoll, A., Wanner, C., & Strotmann, J. M. (2003) · Circulation · doi:10.1161/01.cir.0000091253.71282.04 · Cited by 390 · see citing works

Angiotensin II Blockade Reverses Myocardial Fibrosis in a Transgenic Mouse Model of Human Hypertrophic Cardiomyopathy

Lim, D., Lutucuta, S., Bachireddy, P., Youker, K. A., Evans, A. J., Entman, M. L., Roberts, R., & Marian, A. J. (2001) · Circulation · doi:10.1161/01.cir.103.6.789 · Cited by 387 · see citing works

Genome-wide patterns and properties of de novo mutations in humans

Francioli, L. C., Polak, P. P., Koren, A., Menelaou, A., Chun, S., Renkens, I., van Duijn, C. M., Swertz, M. A., Wijmenga, C., van Ommen, G. B., et al. (2015) · Nature Genetics · doi:10.1038/ng.3292 · Cited by 381 · see citing works

Dystrophin-Deficient Cardiomyopathy

Kamdar, F. D., & Garry, D. J. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.02.081 · Cited by 381 · see citing works

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated with Mutations in the Desmosomal Gene Desmocollin-2

Syrris, P., Ward, D., Evans, A. L., Asimaki, A., Gandjbakhch, E., Sen‐Chowdhry, S., & McKenna, W. J. (2006) · The American Journal of Human Genetics · doi:10.1086/509122 · Cited by 377 · see citing works

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating

Bienengraeber, M., Olson, T. M., Selivanov, V. A., Kathmann, E. C., O’Cochlain, F., Gao, F., Karger, A. B., Ballew, J. D., Hodgson, D. M., Zingman, L. V., et al. (2004) · Nature Genetics · doi:10.1038/ng1329 · Cited by 372 · see citing works

Quantitative analysis of cardiac muscle cell disorganization in the ventricular septum of patients with hypertrophic cardiomyopathy.

Maron, B. J., & Roberts, W. C. (1979) · Circulation · doi:10.1161/01.cir.59.4.689 · Cited by 366 · see citing works

Arrhythmogenic Right Ventricular Cardiomyopathy and Fatty Replacement of the Right Ventricular Myocardium

BURKE, A. P., Farb, A. A., Tashko, G., & Virmani, R. (1998) · Circulation · doi:10.1161/01.cir.97.16.1571 · Cited by 362 · see citing works

Atrial fibrillation and thromboembolism in patients with hypertrophic cardiomyopathy: systematic review

Guttmann, O. P., Rahman, M. S., O’Mahony, C., Anastasakis, A., & Elliot, P. M. (2013) · Heart · doi:10.1136/heartjnl-2013-304276 · Cited by 357 · see citing works

Plakophilin-2 Mutations Are the Major Determinant of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

van Tintelen, J. P., Entius, M. M., Bhuiyan, Z. A., Jongbloed, R. J. E., Wiesfeld, A. C. P., Wilde, A. A. M., van der Smagt, J. J., Boven, L. G., Mannens, M. M. A. M., van Langen, I. M., et al. (2006) · Circulation · doi:10.1161/circulationaha.105.609719 · Cited by 354 · see citing works

Simvastatin Induces Regression of Cardiac Hypertrophy and Fibrosis and Improves Cardiac Function in a Transgenic Rabbit Model of Human Hypertrophic Cardiomyopathy

Patel, R., Nagueh, S. F., Tsybouleva, N., Abdellatif, M., Lutucuta, S., Kopelen, H. A., Quiñones, M. A., Zoghbi, W. A., Entman, M. L., Roberts, R., et al. (2001) · Circulation · doi:10.1161/hc2801.094031 · Cited by 353 · see citing works

Hypertrophic Cardiomyopathy in Adulthood Associated With Low Cardiovascular Mortality With Contemporary Management Strategies

Maron, B. J., Rowin, E. J., Casey, S. A., Link, M. S., Lesser, J. R., Chan, R. H. M., Garberich, R., Udelson, J. E., & Maron, M. S. (2015) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2015.02.061 · Cited by 352 · see citing works

Circulating miR-29a, Among Other Up-Regulated MicroRNAs, Is the Only Biomarker for Both Hypertrophy and Fibrosis in Patients With Hypertrophic Cardiomyopathy

Roncarati, R., Anselmi, C. V., Losi, M. A., Papa, L., Cavarretta, E., Martins, P. A. D. C., Contaldi, C., Jotti, G. S., Franzone, A., Galastri, L., et al. (2013) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2013.09.041 · Cited by 325 · see citing works

Circumstances of Death and Gross and Microscopic Observations in a Series of 200 Cases of Sudden Death Associated With Arrhythmogenic Right Ventricular Cardiomyopathy and/or Dysplasia

Tabib, A., LOIRE, R., Chalabreysse, L., Meyronnet, D., Miras, A., Malicier, D., Thivolet, F., Chevalier, P., & Bouvagnet, P. (2003) · Circulation · doi:10.1161/01.cir.0000108396.65446.21 · Cited by 323 · see citing works

DNA Repair in Mammalian Cells

Pardo, B., Gómez‐González, B., & Aguilera, A. (2009) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-009-8740-3 · Cited by 323 · see citing works

Effects of enzyme replacement therapy on the cardiomyopathy of Anderson–Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa

Hughes, D. A., Elliot, P. M., Shah, J., Zuckerman, J. N., Coghlan, G., Brookes, J. A. S., & Mehta, A. B. (2007) · Heart · doi:10.1136/hrt.2006.104026 · Cited by 317 · see citing works

Familial dilated cardiomyopathy

Mestroni, L., Rocco, C., Gregori, D., Sinagra, G., Lenarda, A. D., Miočiċ, S., Vatta, M., Pinamonti, B., Francesco Muntoni, A., Caforio, A. L. P., et al. (1999) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(99)00172-2 · Cited by 310 · see citing works

Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy–Overlap Syndromes

Taylor, M. R. G., Graw, S. L., Sinagra, G., Barnes, C., Slavov, D. B., Brun, F., Pinamonti, B., Salcedo, E. E., Sauer, W. H., Pyxaras, S. A., et al. (2011) · Circulation · doi:10.1161/circulationaha.110.005405 · Cited by 295 · see citing works

Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy

Monserrat, L., Gimeno, J. R., Marín, F. R., Hermida‐Prieto, M., García‐Honrubia, A., Pérez, I., Fernández, X., de Nicolás, R., de la Morena, G., Payá, E., et al. (2007) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2007.06.062 · Cited by 291 · see citing works

Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives

Semsarian, C., Ingles, J., & Wilde, A. A. M. (2015) · European Heart Journal · doi:10.1093/eurheartj/ehv063 · Cited by 285 · see citing works

Relation between myocyte disarray and outcome in hypertrophic cardiomyopathy

Varnava, A. M., Elliot, P. M., Mahon, N., Davies, M. J., & McKenna, W. J. (2001) · The American Journal of Cardiology · doi:10.1016/s0002-9149(01)01640-x · Cited by 277 · see citing works

Tissue Doppler Imaging Predicts the Development of Hypertrophic Cardiomyopathy in Subjects With Subclinical Disease

Nagueh, S. F., McFalls, J., Meyer, D., Hill, R., Zoghbi, W. A., Tam, J. W., Quiñones, M. A., Roberts, R., & Marian, A. J. (2003) · Circulation · doi:10.1161/01.cir.0000084500.72232.8d · Cited by 275 · see citing works

The Hippo Pathway Is Activated and Is a Causal Mechanism for Adipogenesis in Arrhythmogenic Cardiomyopathy

Chen, S. N., Gurha, P., Lombardi, R., Ruggiero, A., Willerson, J. T., & Marian, A. J. (2014) · Circulation Research · doi:10.1161/circresaha.114.302810 · Cited by 275 · see citing works

Identification of a New Modulator of the Intercalated Disc in a Zebrafish Model of Arrhythmogenic Cardiomyopathy

Asimaki, A., Kapoor, S., Plovie, E., Karin Arndt, A., Adams, E., Liu, Z., James, C. A., Judge, D. P., Calkins, H., Churko, J., et al. (2014) · Science Translational Medicine · doi:10.1126/scitranslmed.3008008 · Cited by 274 · see citing works

Mutant Desmocollin-2 Causes Arrhythmogenic Right Ventricular Cardiomyopathy

Heuser, A., Plovie, E. R., Ellinor, P. T., Grossmann, K. S., Shin, J. T., Wichter, T., Basson, C. T., Lerman, B. B., Klaassen, S., Thierfelder, L., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/509044 · Cited by 263 · see citing works

A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy

Davis, J., Davis, L. C., Correll, R. N., Makarewich, C. A., Schwanekamp, J. A., Moussavi‐Harami, F., Wang, D., York, A. J., Wu, H., Houser, S. R., et al. (2016) · Cell · doi:10.1016/j.cell.2016.04.002 · Cited by 250 · see citing works

Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy

Quarta, G., Syrris, P., Ashworth, M. T., Jenkins, S. A., Alapi, K. Z., Morgan, J. M., Muir, A., Pantazis, A. A., McKenna, W. J., & Elliot, P. M. (2011) · European Heart Journal · doi:10.1093/eurheartj/ehr451 · Cited by 246 · see citing works

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair

Alcalai, R., Metzger, S., Rosenheck, S., Meiner, V., & Chajek-Shaul, T. (2003) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(03)00628-4 · Cited by 241 · see citing works

Pathogenesis of diverse clinical and pathological phenotypes in hypertrophic cardiomyopathy

Marian, A. J. (2000) · The Lancet · doi:10.1016/s0140-6736(99)06187-5 · Cited by 235 · see citing works

SCN5A Mutations Associate With Arrhythmic Dilated Cardiomyopathy and Commonly Localize to the Voltage-Sensing Mechanism

McNair, W. P., Sinagra, G., Taylor, M. R. G., Lenarda, A. D., Ferguson, D. A., Salcedo, E. E., Slavov, D. B., Zhu, X., Caldwell, J. H., & Mestroni, L. (2011) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2010.09.084 · Cited by 233 · see citing works

Genetic advances in sarcomeric cardiomyopathies: state of the art

Ho, C. Y., Charron, P., Richard, P., Girolami, F., van Spaendonck‐Zwarts, K. Y., & Pinto, Y. M. (2015) · Cardiovascular Research · doi:10.1093/cvr/cvv025 · Cited by 232 · see citing works

Allele-Specific Silencing of Mutant Myh6 Transcripts in Mice Suppresses Hypertrophic Cardiomyopathy

Jiang, J., Wakimoto, H., Seidman, J. G., & Seidman, C. E. (2013) · Science · doi:10.1126/science.1236921 · Cited by 230 · see citing works

Microarray gene expression profiles in dilated and hypertrophic cardiomyopathic end-stage heart failure

Hwang, J., Allen, P. D., Tseng, G. C., Lam, C.-W., Fananapazir, L., Dzau, V. J., & Liew, C.-C. (2002) · Physiological Genomics · doi:10.1152/physiolgenomics.00122.2001 · Cited by 228 · see citing works

Circulating microRNAs as biomarkers for diffuse myocardial fibrosis in patients with hypertrophic cardiomyopathy

Lu, F. Y., Ellims, A., Moore, X., White, D. A., Taylor, A. J., Chin-Dusting, J. P. F., & Dart, A. M. (2015) · Journal of Translational Medicine · doi:10.1186/s12967-015-0672-0 · Cited by 226 · see citing works

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy

Erdmann, J., Dähmlow, S., Wischke, S., Senyuva, M., Werner, U., Raible, J., Tanis, N., Dyachenko, S., Hummel, M. W., Hetzer, R., et al. (2003) · Clinical Genetics · doi:10.1034/j.1399-0004.2003.00151.x · Cited by 225 · see citing works

RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing

Maatz, H., Jens, M., Liss, M., Schäfer, S., Heinig, M., Kirchner, M., Adami, E., Rintisch, C., Dauksaite, V., Radke, M. H., et al. (2014) · Journal of Clinical Investigation · doi:10.1172/jci74523 · Cited by 221 · see citing works

Prevalence of Sarcomere Protein Gene Mutations in Preadolescent Children With Hypertrophic Cardiomyopathy

Kaski, J. P., Syrris, P., Tome, M., Jenkins, S. A., Pantazis, A. A., Deanfield, J. E., McKenna, W. J., & Elliot, P. M. (2009) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.108.821314 · Cited by 217 · see citing works

Naxos disease and Carvajal syndrome

Protonotarios, N., & Tsatsopoulou, A. (2004) · Cardiovascular Pathology · doi:10.1016/j.carpath.2004.03.609 · Cited by 215 · see citing works

Angiotensin-I Converting Enzyme Genotypes and Left Ventricular Hypertrophy in Patients With Hypertrophic Cardiomyopathy

Lechin, M. E., Quiñones, M. A., Omran, A., Hill, R., Yu, Q., Rakowski, H., Wigle, D., Liew, C. C., Sole, M. J., Roberts, R., et al. (1995) · Circulation · doi:10.1161/01.cir.92.7.1808 · Cited by 210 · see citing works

A myocardium tropic adeno-associated virus (AAV) evolved by DNA shuffling and in vivo selection

Yang, L., Jiang, J., Drouin, L. M., Agbandje‐McKenna, M., Chen, C., Qiao, C., Pu, D., Hu, X., Wang, D.-Z., Li, J., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0813207106 · Cited by 208 · see citing works

Familial dilated cardiomyopathy: Evidence for genetic and phenotypic heterogeneity

Mestroni, L., Rocco, C., Gregori, D., Sinagra, G., Lenarda, A. D., Miočiċ, S., Vatta, M., Pinamonti, B., Francesco Muntoni, A., Caforio, A. L. P., et al. (1999) · Journal of Cardiac Failure · doi:10.1016/s1071-9164(99)91449-5 · Cited by 205 · see citing works

A systematic review and meta-analysis of genotype–phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations

Lopes, L. R., Rahman, M. S., & Elliot, P. M. (2013) · Heart · doi:10.1136/heartjnl-2013-303939 · Cited by 204 · see citing works

Hereditary muscular dystrophies and the heart

Hermans, M. C. E., Pinto, Y. M., Merkies, I. S. J., de Die-Smulders, C. E. M., Crijns, H. J. G. M., & Faber, C. G. (2010) · Neuromuscular Disorders · doi:10.1016/j.nmd.2010.04.008 · Cited by 197 · see citing works

Myozenin 2 Is a Novel Gene for Human Hypertrophic Cardiomyopathy

Osio, A., Tan, L., Chen, S. N., Lombardi, R., Nagueh, S. F., Shete, S. S., Roberts, R., Willerson, J. T., & Marian, A. J. (2007) · Circulation Research · doi:10.1161/01.res.0000263008.66799.aa · Cited by 194 · see citing works

Role of late gadolinium enhancement cardiovascular magnetic resonance in the risk stratification of hypertrophic cardiomyopathy

Ismail, T. F., Jabbour, A., Gulati, A., Mallorie, A., Raza, S., Cowling, T. E., Das, B., Khwaja, J., Alpendurada, F., Wage, R., et al. (2014) · Heart · doi:10.1136/heartjnl-2013-305471 · Cited by 184 · see citing works

The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology

Veerman, C. C., Wilde, A. A. M., & Lodder, E. M. (2015) · Gene · doi:10.1016/j.gene.2015.08.062 · Cited by 181 · see citing works

Central role for GSK3β in the pathogenesis of arrhythmogenic cardiomyopathy

Chelko, S. P., Asimaki, A., Andersen, P., Bedja, D., Amat-Alarcon, N., DeMazumder, D., Jasti, R., MacRae, C. A., Leber, R., Kleber, A. G., et al. (2016) · JCI Insight · doi:10.1172/jci.insight.85923 · Cited by 180 · see citing works

Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome

Murphy, R. T., Mogensen, J., McGarry, K., Bahl, A., Evans, A. L., Osman, E., Syrris, P., Gorman, G. S., Farrell, M., Holton, J. L., et al. (2005) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2004.11.053 · Cited by 179 · see citing works

Risk of Death in Long-Term Follow-Up of Patients With Apical Hypertrophic Cardiomyopathy

Klarich, K. W., Jost, C. H. A., Binder, J. S., Connolly, H. M., Scott, C. G., Freeman, W. K., Ackerman, M. J., Nishimura, R. A., Tajik, A. J., & Ommen, S. R. (2013) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2013.02.040 · Cited by 179 · see citing works

Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: systematic review of clinical risk markers

Christiaans, I., van Engelen, K., van Langen, I. M., Birnie, E., Bonsel, G. J., Elliott, P. M., & Wilde, A. A. M. (2010) · EP Europace · doi:10.1093/europace/eup431 · Cited by 176 · see citing works

KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation

Olson, T. M., Alekseev, A. E., Moreau, C., Liu, X., Zingman, L. V., Miki, T., Seino, S., Asirvatham, S. J., Jahangir, A., & Terzic, A. (2007) · Nature Clinical Practice Cardiovascular Medicine · doi:10.1038/ncpcardio0792 · Cited by 175 · see citing works

Tissue Doppler Imaging Consistently Detects Myocardial Contraction and Relaxation Abnormalities, Irrespective of Cardiac Hypertrophy, in a Transgenic Rabbit Model of Human Hypertrophic Cardiomyopathy

Nagueh, S. F., Kopelen, H. A., Lim, D., Zoghbi, W. A., Quiñones, M. A., Roberts, R., & Marian, A. J. (2000) · Circulation · doi:10.1161/01.cir.102.12.1346 · Cited by 170 · see citing works

Diltiazem Treatment for Pre-Clinical Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers

Ho, C. Y., Lakdawala, N. K., Cirino, A. L., Lipshultz, S. E., Sparks, E. A., Abbasi, S. A., Kwong, R. Y. K., Antman, E. M., Semsarian, C., González, A., et al. (2014) · JACC Heart Failure · doi:10.1016/j.jchf.2014.08.003 · Cited by 162 · see citing works

Nuclear Plakoglobin Is Essential for Differentiation of Cardiac Progenitor Cells to Adipocytes in Arrhythmogenic Right Ventricular Cardiomyopathy

Lombardi, R., Cabreira-Hansen, M. D. G., Bell, A., Fromm, R., Willerson, J. T., & Marian, A. J. (2011) · Circulation Research · doi:10.1161/circresaha.111.255075 · Cited by 159 · see citing works

Prevention of Cardiac Hypertrophy by Atorvastatin in a Transgenic Rabbit Model of Human Hypertrophic Cardiomyopathy

Senthil, V., Chen, S. N., Tsybouleva, N., Halder, T., Nagueh, S. F., Willerson, J. T., Roberts, R., & Marian, A. J. (2005) · Circulation Research · doi:10.1161/01.res.0000177090.07296.ac · Cited by 159 · see citing works

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy

Millat, G., Bouvagnet, P., Chevalier, P., Dauphin, C., Jouk, P., Costa, A. D., Prieur, F., Bresson, J.-L., Faivre, L. O., Eicher, J., et al. (2010) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2010.07.007 · Cited by 157 · see citing works

Expression profiling of cardiac genes in human hypertrophic cardiomyopathy: insight into the pathogenesis of phenotypes

Lim, D., Roberts, R., & Marian, A. J. (2001) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(01)01509-1 · Cited by 155 · see citing works

Desmin-related cardiomyopathy: an unfolding story

McLendon, P. M., & Robbins, J. M. (2011) · American Journal of Physiology-Heart and Circulatory Physiology · doi:10.1152/ajpheart.00601.2011 · Cited by 149 · see citing works

Genetic Fate Mapping Identifies Second Heart Field Progenitor Cells As a Source of Adipocytes in Arrhythmogenic Right Ventricular Cardiomyopathy

Lombardi, R., Dong, J., Rodrı́guez, G., Bell, A., Leung, T. K., Schwartz, R. J., Willerson, J. T., Brugada, R., & Marian, A. J. (2009) · Circulation Research · doi:10.1161/circresaha.109.196899 · Cited by 148 · see citing works

Human Molecular Genetic and Functional Studies Identify TRIM63 , Encoding Muscle RING Finger Protein 1, as a Novel Gene for Human Hypertrophic Cardiomyopathy

Chen, S. N., Czernuszewicz, G. Z., Tan, Y., Lombardi, R., Jin, J., Willerson, J. T., & Marian, A. J. (2012) · Circulation Research · doi:10.1161/circresaha.112.270207 · Cited by 147 · see citing works

Genetic Inactivation of the α-Galactosidase Locus in Carriers of Fabry's Disease

Romeo, G., & Migeon, B. R. (1970) · Science · doi:10.1126/science.170.3954.180 · Cited by 144 · see citing works

Efficacy and safety of the angiotensin II receptor blocker losartan for hypertrophic cardiomyopathy: the INHERIT randomised, double-blind, placebo-controlled trial

Axelsson, A., Iversen, K. K., Vejlstrup, N. G., Ho, C. Y., Norsk, J. B., Langhoff, L., Ahtarovski, K. A., Corell, P., Havndrup, O., Jensen, M. K., et al. (2014) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(14)70241-4 · Cited by 138 · see citing works

Effects of Losartan on Left Ventricular Hypertrophy and Fibrosis in Patients With Nonobstructive Hypertrophic Cardiomyopathy

Shimada, Y. J., Passeri, J. J., Baggish, A. L., O’Callaghan, C., Lowry, P. A., Yannekis, G., Abbara, S., Ghoshhajra, B. B., Rothman, R. D., Ho, C. Y., et al. (2013) · JACC Heart Failure · doi:10.1016/j.jchf.2013.09.001 · Cited by 138 · see citing works

Sudden cardiac death in children and adolescents between 1 and 19 years of age

Pilmer, C. M., Kirsh, J. A., Hildebrandt, D., Krahn, A. D., & Gow, R. M. (2013) · Heart Rhythm · doi:10.1016/j.hrthm.2013.11.006 · Cited by 128 · see citing works

Review and Metaanalysis of the Frequency of Familial Dilated Cardiomyopathy

Petretta, M., Pirozzi, F., Sasso, L., Paglia, A., & Bonaduce, D. (2011) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2011.06.022 · Cited by 126 · see citing works

Hypertrophic cardiomyopathy: from genetics to treatment

Marian, A. J. (2010) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.2010.02268.x · Cited by 126 · see citing works

Antifibrotic Effects of Antioxidant N-Acetylcysteine in a Mouse Model of Human Hypertrophic Cardiomyopathy Mutation

Marian, A. J., Senthil, V., Chen, S. N., & Lombardi, R. (2006) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2005.10.041 · Cited by 124 · see citing works

Resolution of Established Cardiac Hypertrophy and Fibrosis and Prevention of Systolic Dysfunction in a Transgenic Rabbit Model of Human Cardiomyopathy Through Thiol-Sensitive Mechanisms

Lombardi, R., Rodrı́guez, G., Chen, S. N., Ripplinger, C. M., Li, W., Chen, J., Willerson, J. T., Betocchi, S., Wickline, S. A., Efimov, I. R., et al. (2009) · Circulation · doi:10.1161/circulationaha.108.790501 · Cited by 121 · see citing works

How Do Mutations in Contractile Proteins Cause the Primary Familial Cardiomyopathies?

Marston, S. B. (2011) · Journal of Cardiovascular Translational Research · doi:10.1007/s12265-011-9266-2 · Cited by 118 · see citing works

A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart.

Francesco Muntoni, A., Wilson, L., Marrosu, M. G., Marrosu, M. G., Cianchetti, C., Mestroni, L., Ganau, A., Dubowitz, V., & Sewry, C. A. (1995) · Journal of Clinical Investigation · doi:10.1172/jci118112 · Cited by 113 · see citing works

Syncope in hypertrophic cardiomyopathy: Multivariate analysis of prognostic determinants

Nienaber, C. A., Hiller, S., Spielmann, R. P., Geiger, M., & Kück, K. (1990) · Journal of the American College of Cardiology · doi:10.1016/0735-1097(90)90222-b · Cited by 113 · see citing works

Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2

Mertens, C., Hofmann, I., Wang, Z., Teichmann, M., Chong, S. S., Schnölzer, M., & Franke, W. W. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.141219498 · Cited by 113 · see citing works

How do MYBPC3 mutations cause hypertrophic cardiomyopathy?

Marston, S. B., Copeland, O., Gehmlich, K., Schlossarek, S., & Carrrier, L. (2011) · Journal of Muscle Research and Cell Motility · doi:10.1007/s10974-011-9268-3 · Cited by 107 · see citing works

Strategic Approaches to Unraveling Genetic Causes of Cardiovascular Diseases

Marian, A. J., & Belmont, J. W. (2011) · Circulation Research · doi:10.1161/circresaha.110.236067 · Cited by 107 · see citing works

Quantitative analysis of cardiac muscle cell disorganization in the ventricular septum. Comparison of fetuses and infants with and without congenital heart disease and patients with hypertrophic cardiomyopathy.

Maron, B. J., Sato, N., Roberts, W. C., Edwards, J. E., & Chandra, R. S. (1979) · Circulation · doi:10.1161/01.cir.60.3.685 · Cited by 102 · see citing works

Cardiac mesenchymal stromal cells are a source of adipocytes in arrhythmogenic cardiomyopathy

Sommariva, E., Brambilla, S., Carbucicchio, C., Gambini, E., Meraviglia, V., Dello Russo, A., Farina, F. M., Casella, M., Catto, V., Pontone, G., et al. (2016) · European Heart Journal · doi:10.1093/eurheartj/ehv579 · Cited by 101 · see citing works

Role of Candidate Modifier Genes on the Phenotypic Expression of Hypertrophy in Patients with Hypertrophic Cardiomyopathy

Brugada, R., Kelsey, W., Lechin, M. E., Zhao, G., Yu, Q., Zoghbi, W. A., Quinones, M., Elstein, E., Omran, A., Rakowski, H., et al. (1997) · Journal of Investigative Medicine · doi:10.1177/108155899704500910 · Cited by 100 · see citing works

Blood-based microRNA signatures differentiate various forms of cardiac hypertrophy

Derda, A. A., Thum, S., Lorenzen, J. M., Bavendiek, U., Heineke, J., Keyser, B., Stuhrmann, M., Givens, R. C., Kennel, P. J., Schulze, P. C., et al. (2015) · International Journal of Cardiology · doi:10.1016/j.ijcard.2015.05.185 · Cited by 100 · see citing works

Limb-girdle muscular dystrophies — international collaborations for translational research

Thompson, R., & Straub, V. W. (2016) · Nature Reviews Neurology · doi:10.1038/nrneurol.2016.35 · Cited by 100 · see citing works

Molecular genetics and pathogenesis of cardiomyopathy

Kimura, A. (2015) · Journal of Human Genetics · doi:10.1038/jhg.2015.83 · Cited by 99 · see citing works

High interobserver variability in the assessment of epsilon waves: Implications for diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia

Platonov, P. G., Calkins, H. G., Hauer, R. N. W., Corrado, D., Svendsen, J. H., Wichter, T., Biernacka, E. K., Saguner, A. M., Riele, A. S. J. M. T., & Zaręba, W. (2015) · Heart Rhythm · doi:10.1016/j.hrthm.2015.08.031 · Cited by 98 · see citing works

Cardiac Fibro-Adipocyte Progenitors Express Desmosome Proteins and Preferentially Differentiate to Adipocytes Upon Deletion of the Desmoplakin Gene

Lombardi, R., Chen, S. N., Ruggiero, A., Gurha, P., Czernuszewicz, G. Z., Willerson, J. T., & Marian, A. J. (2016) · Circulation Research · doi:10.1161/circresaha.115.308136 · Cited by 93 · see citing works

Detection of a new mutation in the beta-myosin heavy chain gene in an individual with hypertrophic cardiomyopathy.

Marian, A. J., Yu, Q., Mares, A., Hill, R., Roberts, R., & Perryman, M. B. (1992) · Journal of Clinical Investigation · doi:10.1172/jci116101 · Cited by 88 · see citing works

Mutation in the γ2-Subunit of AMP-Activated Protein Kinase Stimulates Cardiomyocyte Proliferation and Hypertrophy Independent of Glycogen Storage

Kim, M., Hunter, R. W., Garcia‐Menendez, L., Gong, G., Yang, Y.-Y., Kolwicz, S. C., Xu, J., Sakamoto, K., Wang, W., & Tian, R. (2014) · Circulation Research · doi:10.1161/circresaha.114.302364 · Cited by 84 · see citing works

Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy

Daw, E. W., Chen, S. N., Czernuszewicz, G. Z., Lombardi, R., Lu, Y., Ma, J., Roberts, R., Shete, S. S., & Marian, A. J. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm202 · Cited by 80 · see citing works

The Effects of Candesartan on Left Ventricular Hypertrophy and Function in Nonobstructive Hypertrophic Cardiomyopathy

Pěnička, M., Gregor, P., Kerekeš, R., Marek, D., Čurila, K., & Krupicka, J. (2008) · Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2009.080082 · Cited by 79 · see citing works

AAV-mediated in vivo functional selection of tissue-protective factors against ischaemia

Ruozi, G., Bortolotti, F., Falcione, A., Ferro, M. D., Ukovich, L., Macedo, A., Zentilin, L., Filigheddu, N., Cappellari, G. G., Baldini, G., et al. (2015) · Nature Communications · doi:10.1038/ncomms8388 · Cited by 76 · see citing works

A New Therapeutic Strategy for Hypertrophic Nonobstructive Cardiomyopathy in Humans A Randomized and Prospective Study With an Angiotensin II Receptor Blocker

Yamazaki, T., Suzuki, J., Shimamoto, R., Tsuji, T., Ohmoto‐Sekine, Y., Ohtomo, K., & Nagai, R. (2007) · International Heart Journal · doi:10.1536/ihj.48.715 · Cited by 70 · see citing works

‘State-of-the-heart’ of cardiac laminopathies

Cattin, M., Muchir, A., & Bonne, G. (2013) · Current Opinion in Cardiology · doi:10.1097/hco.0b013e32835f0c79 · Cited by 69 · see citing works

5′RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy

Christodoulou, D. C., Wakimoto, H., Onoue, K., Eminaga, S., Gorham, J., DePalma, S. R., Herman, D. S., Teekakirikul, P., Conner, D. A., McKean, D. M., et al. (2014) · Journal of Clinical Investigation · doi:10.1172/jci70108 · Cited by 68 · see citing works

The Effect of Ramipril on Left Ventricular Mass, Myocardial Fibrosis, Diastolic Function, and Plasma Neurohormones in Maine Coon Cats with Familial Hypertrophic Cardiomyopathy without Heart Failure

MacDonald, K. A., Kittleson, M. D., Larson, R. F., Kass, P. H., Klose, T. C., & Wisner, E. R. (2006) · Journal of Veterinary Internal Medicine · doi:10.1111/j.1939-1676.2006.tb00707.x · Cited by 64 · see citing works

Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MR

Kozor, R., Grieve, S. M., Tchan, M. C., Callaghan, F. M., Hamilton-Craig, C. R., Denaro, C. P., Moon, J., & Figtree, G. A. (2016) · Heart · doi:10.1136/heartjnl-2015-308494 · Cited by 62 · see citing works

MicroRNA transcriptome profiling in cardiac tissue of hypertrophic cardiomyopathy patients with MYBPC3 mutations

Kuster, D. W. D., Mulders, J., ten Cate, F. J., Michels, M., dos Remedios, C. G., Martins, P. A. D. C., van der Velden, J., & Oudejans, C. B. M. (2013) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2013.09.012 · Cited by 61 · see citing works

Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies

Lombardi, R., Bell, A., Senthil, V., Sidhu, J. S., Noseda, M., Roberts, R., & Marian, A. J. (2008) · Cardiovascular Research · doi:10.1093/cvr/cvn078 · Cited by 57 · see citing works

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada

Haywood, A. F. M., Merner, N. D., Hodgkinson, K. A., Houston, J., Syrris, P., Booth, V. K., Connors, S. P., Pantazis, A. A., Quarta, G., Elliot, P. M., et al. (2012) · European Heart Journal · doi:10.1093/eurheartj/ehs383 · Cited by 56 · see citing works

The Effect of Ramipril on Left Ventricular Mass, Myocardial Fibrosis, Diastolic Function, and Plasma Neurohormones in Maine Coon Cats with Familial Hypertrophic Cardiomyopathy without Heart Failure

MacDonald, K. A., Kittleson, M. D., Larson, R. F., et al. (2006) · Journal of Veterinary Internal Medicine · doi:10.1892/0891-6640(2006)20[1093:teorol]2.0.co;2 · Cited by 52 · see citing works

Knockdown of Plakophilin 2 Downregulates miR-184 Through CpG Hypermethylation and Suppression of the E2F1 Pathway and Leads to Enhanced Adipogenesis In Vitro

Gurha, P., Chen, X., Lombardi, R., Willerson, J. T., & Marian, A. J. (2016) · Circulation Research · doi:10.1161/circresaha.116.308422 · Cited by 52 · see citing works

On genetic and phenotypic variability of hypertrophic cardiomyopathy: nature versus nurture∗∗Editorials published in the Journal of the American College of Cardiologyreflect the views of the authors and do not necessarily represent the views of JACCor the American College of Cardiology.

Marian, A. J. (2001) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(01)01389-4 · Cited by 51 · see citing works

Fibrinogen and Cardiovascular Disease: Historical Introduction

Lowe, G. D. O. (1995) · European Heart Journal · doi:10.1093/eurheartj/16.suppl_a.2 · Cited by 50 · see citing works

The research venture in arrhythmogenic right ventricular cardiomyopathy: a paradigm of translational medicine

Thiene, G. (2015) · European Heart Journal · doi:10.1093/eurheartj/ehu493 · Cited by 49 · see citing works

Frequency of familial dilated cardiomyopathy

Goerss, J., Michels, V. V., Burnett, J., Driscoll, D. J. O., Miller, F. A., Rodeheffer, R. J., Tajik, A. J., & Schaid, D. J. (1995) · European Heart Journal · doi:10.1093/eurheartj/16.suppl_o.2 · Cited by 48 · see citing works

Left Ventricular Involvement in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Assessed by Echocardiography Predicts Adverse Clinical Outcome

Mast, T. P., Teske, A. J., van der Heijden, J. F., Groeneweg, J. A., Riele, A. S. J. M. T., Velthuis, B. K., Hauer, R. N. W., Doevendans, P. A., & Cramer, M. J. (2015) · Journal of the American Society of Echocardiography · doi:10.1016/j.echo.2015.04.015 · Cited by 43 · see citing works

HMG CoA reductase inhibition and left ventricular mass in hypertrophic cardiomyopathy: a randomized placebo‐controlled pilot study

Bauersachs, J. K., Störk, S., Kung, M., Waller, C. F., Fidler, F., Hoyer, C., Frantz, S., Weidemann, F., Ertl, G., & Angermann, C. E. (2007) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.2007.01877.x · Cited by 43 · see citing works

Atorvastatin and cardiac hypertrophy and function in hypertrophic cardiomyopathy: a pilot study

Nagueh, S. F., Lombardi, R., Tan, Y., Wang, J., Willerson, J. T., & Marian, A. J. (2010) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.2010.02349.x · Cited by 41 · see citing works

Agalsidase alfa in pediatric patients with Fabry disease: a 6.5-year open-label follow-up study

Schiffmann, R., Pastores, G. M., Lien, Y.-H. H., Castañeda, V. L., Chang, P., Martin, R., & Wijatyk, A. (2014) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-014-0169-6 · Cited by 37 · see citing works

Experimental Therapies in Hypertrophic Cardiomyopathy

Marian, A. J. (2009) · Journal of Cardiovascular Translational Research · doi:10.1007/s12265-009-9132-7 · Cited by 36 · see citing works

Arrhythmogenic right ventricular cardiomyopathy is a disease of cardiac stem cells

Lombardi, R., & Marian, A. J. (2010) · Current Opinion in Cardiology · doi:10.1097/hco.0b013e3283376daf · Cited by 35 · see citing works

Rho-Kinase Inhibition During Early Cardiac Development Causes Arrhythmogenic Right Ventricular Cardiomyopathy in Mice

Ellawindy, A., Satoh, K., Sunamura, S., Kikuchi, N., Suzuki, K., Minami, T., Ikeda, S., Tanaka, S., Shimizu, T., Enkhjargal, B., et al. (2015) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.115.305872 · Cited by 34 · see citing works

Causality in Genetics

Marian, A. J. (2014) · Circulation Research · doi:10.1161/circresaha.114.302904 · Cited by 34 · see citing works

Arrhythmogenic Cardiomyopathy in a Patient With a Rare Loss‐of‐Function KCNQ1 Mutation

Xiong, Q., Cao, Q., Zhou, Q., Xie, J., Shen, Y., Wan, R., Yu, J., Yan, S., Marian, A. J., & Hong, K. (2015) · Journal of the American Heart Association · doi:10.1161/jaha.114.001526 · Cited by 31 · see citing works

Familial Dilated Cardiomyopathy: Clinical Features in French Families

Mangin, L., Charron, P., Tesson, F., Mallet, A., Dubourg, O., Desnos, M., Benaïsche, A., Gayet, C., Gibelin, P., Davy, J., et al. (1999) · European Journal of Heart Failure · doi:10.1016/s1388-9842(99)00047-1 · Cited by 27 · see citing works

Challenges in the Diagnosis of Anderson-Fabry Disease

Marian, A. J. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.06.026 · Cited by 21 · see citing works

Distinct Patterns of Genetic Variations in Potential Functional Elements in Long Noncoding RNAs

Bhartiya, D., Jalali, S., Ghosh, S., & Scaria, V. (2013) · Human Mutation · doi:10.1002/humu.22472 · Cited by 17 · see citing works

The Case of “Missing Causal Genes” and the Practice of Medicine

Marian, A. J. (2016) · Circulation Research · doi:10.1161/circresaha.116.308830 · Cited by 16 · see citing works

Identifying Modifier Loci in Existing Genome Scan Data

Daw, E. W., Lu, Y., Marian, A. J., & Shete, S. S. (2008) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2008.00449.x · Cited by 13 · see citing works

Epsilon Waves Aid in the Prognosis and Risk Stratification of Patients With ARVC/D

Marcus, G. M. (2015) · Journal of Cardiovascular Electrophysiology · doi:10.1111/jce.12775 · Cited by 11 · see citing works

On the diagnostic utility of junction plakoglobin in arrhythmogenic right ventricular cardiomyopathy

Marian, A. J. (2013) · Cardiovascular Pathology · doi:10.1016/j.carpath.2013.05.002 · Cited by 8 · see citing works

Fabry disease.

Thomas, A. S., & Hughes, D. A. (2014) · PubMed · Cited by 8 · see citing works

Genetic Causality in Complex Traits

Marian, A. J. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2015.09.109 · Cited by 6 · see citing works

Arrhythmogenic Right Ventricular Cardiomyopathy

Dunn, K. E., & Ashley, E. A. (2015) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.115.001119 · Cited by 6 · see citing works

Dilated Cardiomyopathy: Genetic Determinants and Mechanisms

McNally, E. M., & Mestroni, L. (2017) · Circulation Research · doi:10.1161/circresaha.116.309396 · Cited by 786 · see citing works

Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy

Gigli, M., Merlo, M., Graw, S. L., Barbati, G., Rowland, T. J., Slavov, D. B., Stolfo, D., Haywood, M. E., Ferro, M. D., Altinier, A., et al. (2019) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2019.06.072 · Cited by 319 · see citing works

Genetic Pathogenesis of Hypertrophic and Dilated Cardiomyopathy

Garfinkel, A. C., Seidman, J. G., & Seidman, C. E. (2018) · Heart Failure Clinics · doi:10.1016/j.hfc.2017.12.004 · Cited by 125 · see citing works

Distinct hypertrophic cardiomyopathy genotypes result in convergent sarcomeric proteoform profiles revealed by top-down proteomics

Tucholski, T., Cai, W., Gregorich, Z. R., Bayne, E. F., Mitchell, S. D., McIlwain, S. J., de Lange, W. J., Wrobbel, M., Karp, H., Hite, Z., et al. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2006764117 · Cited by 107 · see citing works

Pathophysiology of dilated cardiomyopathy: from mechanisms to precision medicine

Gigli, M., Stolfo, D., Merlo, M., Sinagra, G., Taylor, M. R. G., & Mestroni, L. (2024) · Nature Reviews Cardiology · doi:10.1038/s41569-024-01074-2 · Cited by 98 · see citing works

Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype

Hall, C. L., Akhtar, M. M., Molina, M. S., Futema, M., Asimaki, A., Protonotarios, A., Dalageorgou, C., Pittman, A. M., Suárez, M. P., Aguilera, B., et al. (2019) · International Journal of Cardiology · doi:10.1016/j.ijcard.2019.09.048 · Cited by 70 · see citing works

The emerging role of sorting nexins in cardiovascular diseases

Yang, J., Villar, V. A. M., Rozyyev, S., Jose, P. A., & Zeng, C. (2019) · Clinical Science · doi:10.1042/cs20190034 · Cited by 55 · see citing works

Genetic cardiomyopathies

Wilcox, J. E., & Hershberger, R. E. (2018) · Current Opinion in Cardiology · doi:10.1097/hco.0000000000000512 · Cited by 54 · see citing works

Perspectives on the Overall Risks of Living With Hypertrophic Cardiomyopathy

Maron, B. J., Maron, M. S., & Rowin, E. J. (2017) · Circulation · doi:10.1161/circulationaha.117.027738 · Cited by 49 · see citing works

Spatial transcriptomics unveils ZBTB11 as a regulator of cardiomyocyte degeneration in arrhythmogenic cardiomyopathy

Boogerd, C. J. J., Lacraz, G., Vértesy, Á., van Kampen, S. J., Perini, I., de Ruiter, H., Versteeg, D., Brodehl, A., van der Kraak, P. H., Giacca, M., et al. (2022) · Cardiovascular Research · doi:10.1093/cvr/cvac072 · Cited by 44 · see citing works

Rationale and design of the PROspective ATHletic Heart (Pro@Heart) study: long-term assessment of the determinants of cardiac remodelling and its clinical consequences in endurance athletes

Bosscher, R. D., Dausin, C., Janssens, K., Bogaert, J. G., Elliott, A. D., Ghekiere, O., Heyning, C. M. V. D., Sanders, P., Kalman, J. M., Fatkin, D., et al. (2022) · BMJ Open Sport & Exercise Medicine · doi:10.1136/bmjsem-2022-001309 · Cited by 39 · see citing works

Conceptos básicos en biología molecular relacionados con la genética y la epigenética

Corella, D., & Ordovás, J. M. (2017) · Revista Española de Cardiología · doi:10.1016/j.recesp.2017.02.034 · Cited by 35 · see citing works

Unraveling obscurins in heart disease

Grogan, A., & Kontrogianni‐Konstantopoulos, A. (2018) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-018-2191-3 · Cited by 34 · see citing works

Differential expression profiles of plasma exosomal microRNAs in dilated cardiomyopathy with chronic heart failure

Zhang, L., Zhang, G., Lu, Y., Gao, J., Qin, Z., Xu, S., Wang, Z., Xu, Y., Yang, Y. L., Zhang, J., et al. (2023) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.17789 · Cited by 30 · see citing works

Inferring the effect of genomic variation in the new era of genomics

Chakravorty, S., & Hegde, M. (2018) · Human Mutation · doi:10.1002/humu.23427 · Cited by 27 · see citing works

Clinical Diagnosis of Hypertrophic Cardiomyopathy Over Time in the United States (A Population-Based Claims Analysis)

Butzner, M., Maron, M. S., Sarocco, P., Rowin, E. J., Teng, C., Tan, H., Stanek, E. J., & Robertson, L. (2021) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2021.08.024 · Cited by 27 · see citing works

Epigenetic regulation of phosphodiesterase 4d in restrictive cardiomyopathy mice with cTnI mutations

Zhao, W., Wu, X., Wang, Z., Pan, B., Liu, L., Liu, L., Huang, X., & Tian, J. (2019) · Science China Life Sciences · doi:10.1007/s11427-018-9463-9 · Cited by 23 · see citing works

Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy

Marey, I., Fressart, V., Rambaud, C., Fornés, P., Martin, L., Grotto, S., Alembik, Y., Gorka, H., Millat, G., Gandjbakhch, E., et al. (2020) · Open Medicine · doi:10.1515/med-2020-0150 · Cited by 23 · see citing works

Basic Concepts in Molecular Biology Related to Genetics and Epigenetics

Corella, D., & Ordovás, J. M. (2017) · Revista Española de Cardiología (English Edition) · doi:10.1016/j.rec.2017.05.011 · Cited by 23 · see citing works

Epigenetics in dilated cardiomyopathy

Yu, J., Zeng, C., & Wang, Y. (2019) · Current Opinion in Cardiology · doi:10.1097/hco.0000000000000616 · Cited by 23 · see citing works

Application of Spatial Omics in the Cardiovascular System

Hu, Y., Jia, H., Cui, H., & Song, J. (2025) · Research · doi:10.34133/research.0628 · Cited by 21 · see citing works

An overview of the genetic basis of cardiovascular disease

Laing, N., Kraus, S., Shaboodien, G., & Ntusi, N. (2019) · South African Medical Journal · doi:10.7196/samj.2019.v109i6.14069 · Cited by 15 · see citing works

Genetics, its role in preventing the pandemic of coronary artery disease

Roberts, R., & Fair, J. (2021) · Clinical Cardiology · doi:10.1002/clc.23627 · Cited by 12 · see citing works

Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich’s ataxia, and other rare iron-related diseases

Ferreira, G. C., Oberstaller, J., Fonseca, R., Keller, T. E., Adapa, S. R., Gibbons, J., Wang, C. C. Q., Liu, X., Li, C., Pham, M., et al. (2019) · F1000Research · doi:10.12688/f1000research.19140.1 · Cited by 12 · see citing works

Translating genomic insights into cardiovascular medicine: Opportunities and challenges of CRISPR-Cas9

Zhang, Y., & Karakikes, I. (2020) · Trends in Cardiovascular Medicine · doi:10.1016/j.tcm.2020.06.008 · Cited by 11 · see citing works

Gene editing therapy as a therapeutic approach for cardiovascular diseases in animal models: A scoping review

Vo, Q. D. (2025) · PLoS ONE · doi:10.1371/journal.pone.0325330 · Cited by 12 · see citing works

Molecular genetic diagnostics for ventricular arrhythmias and sudden cardiac death syndromes

Stallmeyer, B., Dittmann, S., Seebohm, G., Müller, J. G., & Schulze‐Bahr, E. (2017) · Herz · doi:10.1007/s00059-017-4583-0 · Cited by 10 · see citing works

New insights provided by myofibril mechanics in inherited cardiomyopathies.

Lin, Y., Yap, J. J. L., Ramachandra, C. J. A., & Hausenloy, D. J. (2019) · PubMed · Cited by 9 · see citing works

Мир микроРНК гепатобилиарной системы

Абатуров, А. Е., & Babуch, V. L. (2021) · CHILD`S HEALTH · doi:10.22141/2224-0551.16.1.2021.226462 · Cited by 7 · see citing works

Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy

Toste, A., Perrot, A., Özcelik, C., & Cardim, N. M. (2020) · Revista Portuguesa de Cardiologia · doi:10.1016/j.repc.2019.12.007 · Cited by 7 · see citing works

Genetic stratification for primary prevention of coronary artery disease

Roberts, R., & Campillo, A. (2018) · Current Opinion in Cardiology · doi:10.1097/hco.0000000000000542 · Cited by 4 · see citing works

Tackling an unmet need in sports cardiology: understanding exercise-induced cardiac remodelling and its clinical consequences

Bosscher, R. D., Heidbüchel, H., Claessen, G., & Gerche, A. L. (2022) · British Journal of Sports Medicine · doi:10.1136/bjsports-2022-105440 · Cited by 4 · see citing works

Ensuring Equity, Diversity, and Inclusiveness in Genetic Analysis Will Empower the Future of Precision Medicine

Brunt, K. R., & Northrup, V. (2023) · JACC Advances · doi:10.1016/j.jacadv.2023.100769 · Cited by 2 · see citing works

Genetische Diagnostik zur Vermeidung des plötzlichen Herztods

Stallmeyer, B., Dittmann, S., & Schulze‐Bahr, E. (2018) · Der Internist · doi:10.1007/s00108-018-0462-x · Cited by 2 · see citing works

Genetic Risk Stratification and Prevention of CAD: An Idea Whose Time Is Now

Roberts, R. (2017) · Clinical Chemistry · doi:10.1373/clinchem.2017.278895 · Cited by 2 · see citing works

A Devotion to Never Feeling Satisfied

Fuster, V. (2017) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.11.025 · Cited by 2 · see citing works

JACC Moving On

Fuster, V. (2018) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2018.03.476 · Cited by 2 · see citing works

Editor-in-Chief’s Top Picks From 2015: Part One

Fuster, V. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2015.12.002 · Cited by 1 · see citing works

Genetic Testing in Cardiovascular Medicine

Marian, A. J. (2018) · Texas Heart Institute Journal · doi:10.14503/thij-18-6674 · Cited by 1 · see citing works

Cardiomyopathies

Bunning, C. R., & Suvarna, S. K. (2019) · Springer eBooks · doi:10.1007/978-3-030-24560-3_11 · Cited by 1 · see citing works

New landscape of cardiovascular genetics and genomics

Marian, A. J. (2017) · Current Opinion in Cardiology · doi:10.1097/hco.0000000000000394

1986 American Heart Association Bugher Program Pivotal to Current Management and Research of Heart Disease

Roberts, R. (2018) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.118.002222

Myocardial morphology in hypertrophic cardiomyopathy: the current state of the problem

Balabai, A. A. (2019) · Zaporozhye Medical Journal · doi:10.14739/2310-1210.2019.3.169215

Editor-in-Chief’s Top Picks From 2016: Part One

Fuster, V. (2017) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2017.01.004

Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy

Toste, A., Perrot, A., Özcelik, C., & Cardim, N. M. (2020) · Revista Portuguesa de Cardiologia (English Edition) · doi:10.1016/j.repce.2019.12.008

Genetic Variation in Cardiac Troponin T Gene TNNT2 in Iraqi Patients with Cardiomyopathy

Mutlag, M. H., Yenzeel, J. H., & Subhi, M. R. (2022) · Pakistan Journal of Medical and Health Sciences · doi:10.53350/pjmhs22166373

Genetic Risk Stratification and the Primary Prevention of Coronary Artery Disease

Fair, J., Acuna, E., & Roberts, R. (2022) · Medical Research Archives · doi:10.18103/mra.v10i8.3039

THE ROLE OF PRECISION MEDICINE AND GENOMICS IN CARDIAC SURGERY

Bereza, M., Kmieć, K. K., Szymańska, E., Dembiński, M., Prabucka-Marciniak, J., Fiertek, P., Misarko, A., Rycyk, H., Pysiewicz, J., & Rycyk, M. (2025) · International Journal of Innovative Technologies in Social Science · doi:10.31435/ijitss.3(47).2025.3653

Complex Cardiovascular Disorders

Arking, D. E. (2008) · doi:10.1093/oso/9780195188134.003.0011

Strategic Approaches to Unraveling Genetic Causes of Cardiovascular Diseases

Marian, A. J., & Belmont, J. W. (2011) · Circulation Research · doi:10.1161/circresaha.110.236067 · Cited by 107 · see citing works

Phenotypic variability and modifier variants in children with hereditary heart diseases

Щербакова, Н. В., Zhironkina, A. B., Voinova, V. Y., Абдул-Гафуровна, И. Р., & Shkolnikova, M. A. (2021) · Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) · doi:10.21508/1027-4065-2021-66-3-12-19 · Cited by 1 · see citing works

Genetics and Disease of Ventricular MusclePreprint

Fatkin, D., Seidman, C. E., & Seidman, J. G. (2014) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a021063 · Cited by 46 · see citing works

From founder to function: Can we unravel phenotype from genotype?

Weldy, C. S., & Perez, M. V. (2023) · Heart Rhythm · doi:10.1016/j.hrthm.2023.08.030