NHLBI GO-ESP: Family Studies (Dilated Cardiomyopathy)

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

N. Norton, Duanxiang Li, M. Rieder, et al.. (2011). American journal of human genetics. Cited 367 times. https://doi.org/10.1016/j.ajhg.2011.01.016

Coding Sequence Rare Variants Identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 From 312 Patients With Familial or Idiopathic Dilated Cardiomyopathy

R. Hershberger, N. Norton, A. Morales, et al.. (2010). Circulation: Cardiovascular Genetics. Cited 242 times. https://doi.org/10.1161/CIRCGENETICS.109.912345

Coding Sequence Mutations Identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 Patients with Familial or Idiopathic Dilated Cardiomyopathy

R. Hershberger, Sharie B. Parks, Jessica D. Kushner, et al.. (2008). Clinical and Translational Science. Cited 213 times. https://doi.org/10.1111/j.1752-8062.2008.00017.x

Identification of Novel Mutations in RBM20 in Patients with Dilated Cardiomyopathy

Duanxiang Li, A. Morales, J. Gonzalez-Quintana, et al.. (2010). Clinical and Translational Science. Cited 181 times. https://doi.org/10.1111/j.1752-8062.2010.00198.x

Mutations of presenilin genes in dilated cardiomyopathy and heart failure.

Duanxiang Li, Sharie B. Parks, Jessica D. Kushner, et al.. (2006). American journal of human genetics. Cited 180 times. https://doi.org/10.1086/509900

Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.

P. Jakobs, E. Hanson, K. Crispell, et al.. (2001). Journal of cardiac failure. Cited 122 times. https://doi.org/10.1054/JCAF.2001.26339

Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

E. Rampersaud, J. Siegfried, N. Norton, et al.. (2011). Progress in pediatric cardiology. Cited 73 times. https://doi.org/10.1016/J.PPEDCARD.2010.11.008

Functional Characterization of TNNC1 Rare Variants Identified in Dilated Cardiomyopathy*

J. Pinto, J. Siegfried, Michelle S. Parvatiyar, et al.. (2011). The Journal of Biological Chemistry. Cited 62 times. https://doi.org/10.1074/jbc.M111.267211