Selected Publications from the DCM Research Project
Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study
Kinnamon DD, Morales A, Bowen DJ, Burke W, Hershberger RE; DCM Consortium*. Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study. Circ Cardiovasc Genet 2017; 10(6):e001826. PMID: 29237686
A Novel Human R25C-Phospholamban Mutation Is Associated with Superinhibition of Calcium Cycling, Dilated Cardiomyopathy and Ventricular Arrhythmia
Liu G, Morales A, Vafiadaki E, Lam CK, Cai W, Haghighi K, Hershberger RE, Kranias EG. A Novel Human R25C-Phospholamban Mutation Is Associated with Superinhibition of Calcium Cycling, Dilated Cardiomyopathy and Ventricular Arrhythmia. Cardiovasc Res 2015;107:164-74. PMID: 25852082
Identification and In Vitro Characterization of Novel Myosin Regulatory Light Chain Mutation Associated with Dilated Cardiomyopathy
Huang W, Liang J, Chen-Ching Yuan C, Kazmierczak K, Morales A, McBride KL, Fitzgerald-Butt SM, Hershberger RE, Szczesna-Cordary D. Identification and In Vitro Characterization of Novel Myosin Regulatory Light Chain Mutation Associated with Dilated Cardiomyopathy. FEBS J 2015; 282:2379-93. PMID: 25825243
Progress in DCM Genetics: The complexity of a diverse genetic architecture
Hershberger RE, Hedges DJ, Morales AM. Progress in DCM Genetics: The complexity of a diverse genetic architecture. Nature Reviews Cardiology 2013;10:531-47. PMID: 23900355
Genetic evaluation of dilated cardiomyopathy
Morales A, Hershberger RE. Genetic evaluation of dilated cardiomyopathy. Current Cardiol Reports. 2013;15:375 PMID: 23686784
Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy
Brodt C, Siegfried JD, Hofmeyer M, Martel J, Rampersaud E, Li D, Norton N, Hershberger RE. Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy. J Cardiac Failure 2013;19:233-239. PMID: 23582089
Genetic testing in cardiovascular medicine – current landscape and future horizons
Sturm AC, Hershberger RE. Genetic testing in cardiovascular medicine – current landscape and future horizons. Current Opinion in Cardiology 2013;28:317-25. PMID: 23571470
Exome sequencing and genome-wide linkage analysis in 17 families illustrates the complex contribution of TTN truncating variants to dilated cardiomyopathy
Norton N, Li D, Rampersand E, Morales A, Martin E, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE. Exome sequencing and genome-wide linkage analysis in 17 families illustrates the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circulation Cardiovasc Genetics 2013;6:144-53. PMID: 23418287
Return of genetic results in the familial dilated cardiomyopathy research project
Siegfried JD, Kushner JD, Burkett EL, Morales A, Cowan J, Mauro AC, Huggins GS, Li D, Norton N, Hershberger RE. Return of genetic results in the familial dilated cardiomyopathy research project. J Genetic Counseling 2013;22:164-74. PMID: 22886719
Where genome meets phenome: Rationale for integrating genetic and protein biomarkers in the diagnosis and management of dilated cardiomyopathy and heart failure
Piran S, Liu P, Morales A, Hershberger RE. Where genome meets phenome: Rationale for integrating genetic and protein biomarkers in the diagnosis and management of dilated cardiomyopathy and heart failure. J Am Coll Cardiol 2012;60:283-89. PMID: 22813604
Evaluating Pathogenicity of Rare Variants from Dilated Cardiomyopathy in the Exome Era
Norton N, Robertson PD, Rieder MJ, Zuchner S, Rampersaud E. Evaluating Pathogenicity of Rare Variants from Dilated Cardiomyopathy in the Exome Era. Circ Cardiovasc Genet 2012; Apr 1;5(2):167-74. PMID:22337857
Copy Number Variation in 58 Probands probands with dilated cardiomyopathy
Norton N, Siegfried JD, Li D, Hershberger RE. Assessment of LMNA Copy Number Variation in 58 Probands probands with dilated cardiomyopathy. Clin Transl Sci 2011; Oct;4(5):351-2. PMID:22029807
Rare variant mutations identified in pediatric patients with dilated cardiomyopathy
Rampersaud E, Siegfried JD, Norton N, Li D, Martin E. Rare variant mutations identified in pediatric patients with dilated cardiomyopathy. Progress in Pediatric Cardiology 2011; 31: 39–47. PMID:21483645
Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy
Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Zuchner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, Hershberger RE. Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy. Am J of Human Genetics 2011; 88:273-282. PMID:21353195
Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy
Hershberger RE, and Siegfried JD.Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy. J of Am Coll Cardiol <2011; 57(16): 1641-1649.PMID:21492761
Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals
Hershberger RE, Morales A, Siegfried JD. Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals. Genetics in Medicine 2010; 12(11): 655-667. PMID:20864896
Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy
Li D, Morales A, Gonzalez-Quintana J, Norton N, Siegfried JD, Hofmeyer M, Hershberger RE. Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. Clin Transl Sci 2010; Jun;3(3):90-97.PMID:20590677
Late Onset Sporadic Dilated Cardiomyopathy Caused by a Cardiac troponin T mutation
Morales A, Pinto JR, Siegfried JD, Li D, Norton N, Hofmeyer M, Vallin M, Morales AR, Potter JD, Hershberger RE. Late Onset Sporadic Dilated Cardiomyopathy Caused by a Cardiac troponin T mutation. Clin Translational Sci 2010; Oct;3(5):219-26. PMID:20973921
Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy
Morales A, Painter T, Li R, Siegfried JD, Li D, Norton N, Hershberger RE. Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy. Circulation 2010; 121:2157-2159. PMID:20458009
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy
Hershberger RE, Norton N, Morales A, Li D, Siegfried JD, Gonzalez-Quintana J. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genetics 2010; 2:155-161. PMID: 20215591
Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy
Hershberger RE, Pinto J, Parks SB, Kushner JD, Li D, Ludwigsen S, Cowan J, Morales A, Parvatiyar MS, Potter JD. Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. Circ Genetics 2009; 2:253-261. PMID:20031601
Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic and arrhythmogenic right ventricular dysplasia/cardiomyopathy
Hershberger RE, Cowan J, Morales A, Siegfried JD. Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic and arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Heart Fail 2009;2:253-261.PMID:19808347
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy
Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Peterson A, Li D, Jakobs P, Litt M, Porter C, Rahko P, Hershberger RE. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am Heart J 2008;156:161-9. PMID:18585512
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy
Hershberger RE, Parks SD, Kushner JD, Li D, Ludwigsen S, Jakobs PM, Nauman D, Burgess D, Partain J, Litt M. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci 2008; May;1(1):21-26(6).PMID:19412328
Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy
Kushner JD, Nauman D, Burgess D, Ludwigsen S, Dutton D, Parks S, Pantely G, Burkett EL, Hershberger RE. Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy. J Cardiac Failure 2006;12:422-29. PMID:16911908
Mutations in presenilin genes in dilated cardiomyopathy and heart failure
Li D, Parks S, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Partain J, Nixon RR, Allen CN, Irwin R, Jakobs PM, Litt M, Hershberger RE. Mutations in presenilin genes in dilated cardiomyopathy and heart failure. Am J Human Genetics 2006;79:1030-1039. PMID:17186461
State of the Art: Clinical and genetic issues in familial dilated cardiomyopathy
Burkett EL, Hershberger RE. State of the Art: Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2005; 45:969-81. PMID:15808750
A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease and need for permanent pacemaker implantation
Hershberger RE, Hanson EL, Jakobs PM, Keegan , Coates K, Bousman S, Litt M. A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease and need for permanent pacemaker implantation. Am Heart J 2002;144:1081-1086. PMID:12486434
Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy
Crispell KA, Hanson EL, Coates K, Warren T, Hershberger RE. Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy. J Am Coll Cardiol 2002;39:1503-1507. PMID:11985914
Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease
Jakobs PM, Hanson E, Crispell KA, Toy W, Keegan H, Schilling K, Icenogle T, Litt M, Hershberger RE. Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. J Cardiac Failure 2001;7:249-256. PMID:11561226
Clinical profiles of four large pedigrees with familial dilated cardiomyopathy: preliminary recommendations for clinical practice
Crispell KA, Wray A, Ni H, Nauman DJ, Hershberger RE. Clinical profiles of four large pedigrees with familial dilated cardiomyopathy: preliminary recommendations for clinical practice. J Am Coll Cardiol 1999;34:837-847. PMID:10483968
ONLINE PUBLICATIONS
LMNA-Related Dilated Cardiomyopathy
Hershberger RE, Morales A. LMNA-Related Dilated Cardiomyopathy. 2008 Jun 12 [Updated 2013 Sep 19]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015..Available at GeneReviews
Dilated Cardiomyopathy Overview
Hershberger RE, Morales A. Dilated Cardiomyopathy Overview.2007 Jul 27 [Updated 2013 May 9]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.. Available at GeneReviews