Concepedia

Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy

Andreas Brodehl, Saman Rezazadeh, Tatjana Williams, Nicole Munsie, Daniel Liedtke, Tracey Oh, Raechel A. Ferrier, Yaoqing Shen, Steven J.M. Jones, Amy L. Stiegler,

Translational research · 2019 · 45 citations · 45 references

DOIFull text

Open access

Concepts

References

45

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

Stages of embryonic development of the zebrafish

Charles B. Kimmel, William W. Ballard, Seth R. Kimmel et al. · Developmental Dynamics · 1995 · 12.3K citations

, , +17

Inference of Macromolecular Assemblies from Crystalline State

Evgeny Krissinel, Kim Henrick · Journal of Molecular Biology · 2007 · 10.4K citations · Full text

, , +14

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

, , +17

Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

William J. McKenna, Duane L. Sherrill, Cristina Basso et al. · Circulation · 2010 · 2.7K citations · Full text

, , +16