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Familial Dilated Cardiomyopathy Research Project


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Our Publications

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 Translational Sci 2010; 3:90-97.

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

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

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

Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MRG, Towbin JA. Genetic evaluation of cardiomyopathy - A Heart Failure Society of America practice guideline. J Cardiac Failure 2009; 15:83-97. PMID:19254666

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

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

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 Trans Scie 2008; 1:21-26(6).

Cowan J, Morales A, Dagua J, Hershberger RE. Genetic testing and genetic counseling in cardiovascular genetic medicine: Overview and preliminary recommendations. Cong Heart Fail 2008; 14(2):97-105. PMID: 18401220

Morales A, Cowan J, Dagua J, Hershberger RE. Family history: An essential tool for cardiovascular genetic medicine. Cong Heart Fail2008;14(1): 37-45. PMID: 18256568

Nauman D, Morales A, Cowan J, Dagua J, Hershberger RE. The family history as a tool to identify patients at risk for dilated cardiomyopathy. Prog Cardiovasc Nurs 2008; 23(1):41-44. PMID: 18326985  

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

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

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

Hershberger RE. Familial dilated cardiomyopathy. Prog Pediatr Cardiol 2005; Prog Pediatr Cardiol 2005;20:161-68.

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

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

Hanson EL, Hershberger RE. Genetic counseling and screening issues in familial dilated cardiomyopathy. J Genetic Counseling 2001;10:397-415.

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

Hanson EL, Jakobs PM, Keegan H, Coates K, Bousman S, Dienel NH, Litt M, Hershberger RE. Cardiac troponin T lysine-210 deletion in a family with dilated cardiomyopathy. J Cardiac Failure 2001;8:28-32. PMID:11862580

Hershberger RE, Ni H, Crispell KA.  Familial dilated cardiomyopathy: new echocardiographic diagnostic criteria for classification of family members as affected. J Cardiac Failure 1999;5:203-212. PMID:10496193        

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

Hershberger RE, Cowan J, Morales A. (Created June 17, 2008). LMNA-Related Dilated Cardiomyopathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2008. Available at http://www.genetests.org.

Hershberger RE, Kushner JD, Parks SB. (Created July 27, 2007). Dilated Cardiomyopathy Overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2008. Available at http://www.genetests.org.

Our Research Posters & Presented Papers

Hershberger R, Morales A, Norton N, Li D, Siegfried J. MYBPC3, MYH6, TPM1, TNNC1 And TNNI3 mutations identified In 313 Patients with dilated cardiomyopathy. Circulation 2009;120(Supple2):S572.

Parks SB, Jakobs P, Li D, Kushner J, Burkett E, Ludwigsen S, Litt M, Hershberger R. Preliminary results of lamin A/C mutation screening in a large cohort of familial dilated cardiomyopathy patients. Am J Human Genetics 2003;73(supplement):554. 

Li D, Parks SB, Jakobs P, Kushner J, Burkett E, Ludwigsen S, Litt M, Hershberger R. Mutation of muscle LIM protein is an uncommon genetic cause for familial dilated cardiomyopathy.  Am J Human Genetics 2003;73(supplement):553.

Crispell KA, Coates K, Toy W, Hanson E, Hershberger RE. Results of follow-up screening six years after initial screening in a large family with dilated cardiomyopathy. J Cardiac Failure 2001;7(suppl 2):67.

Hanson EL, Jakobs PM, Crispell KA, Toy W, Keegan H, Schilling K, Icenogle TB, Litt M, Hershberger RE.  Novel lamin A/C gene mutations in three of sixteen large families with dilated cardiomyopathy. Circulation 2001;102(suppl 2):611.

Jakobs P.M., Keegan H., Hanson E.L., Litt M., & Hershberger R.E.  2001.  Novel mutations in four families with dilated cardiomyopathy and conduction disease cluster in the rod domain of lamin A/C.  Am J Human Genetics 2001;(supplement).

Hanson E.L., Crispell K., Nauman D., & Hershberger R.  1999.  Genetic counseling issues in familial dilated cardiomyopathy.  J Genet Couns 1999;8(6):396.

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;33(suppl A):508A.

Hershberger RE, Ni H, Crispell K,Wray A.  Familial dilated cardiomyopathy: New echocardiographic diagnostic criteria for classification of family members as affected. J Am Coll Cardiol 1999;33(suppl A):493A.

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Familial Dilated Cardiomyopathy Research Project
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