Concepedia

The Genetics of Dilated Cardiomyopathy: A Prioritized Candidate Gene Study of <i><scp>LMNA</scp></i>, <i><scp>TNNT2</scp></i>, <i><scp>TCAP</scp></i>, and <scp><i>PLN</i></scp>

Marika Hirtle‐Lewis, Katia Desbiens, Isabelle L. Ruel, Nicholas Rudzicz, Jacques Genest, James C. Engert, Nadia Giannetti

Clinical Cardiology · 2013 · 28 citations · 23 references

DOIFull text

Open access

Abstract

Despite high locus and allele heterogeneity, we demonstrate that a prioritized gene study, combined with next-generation exome-sequencing data, can be fruitful for the identification of DCM mutations.

References

23

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.6K citations

, , +13

Effect of Enalapril on Mortality and the Development of Heart Failure in Asymptomatic Patients with Reduced Left Ventricular Ejection Fractions

New England Journal of Medicine · 1992 · 3.7K citations

Predicting the Functional Effect of Amino Acid Substitutions and Indels

Yongwook Choi, Gregory E. Sims, Sean V. Murphy et al. · PLoS ONE · 2012 · 2.9K citations · Full text

, , +23

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Jacob A. Tennessen, Abigail W. Bigham, Timothy D. O’Connor et al. · Science · 2012 · 1.7K citations · Full text

, , +31

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies

Michael J. Ackerman, Silvia G. Priori, Stephan Willems et al. · Heart Rhythm · 2011 · 1.5K citations

, , +5