Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death

When Lamins Go Bad: Nuclear Structure and Disease

(2013) Katherine H. Schreiber et al.   CELL

Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants

(2013) Lia Crotti et al.   CIRCULATION

Exome Sequencing and Genome-Wide Linkage Analysis in 17 Families Illustrate the Complex Contribution of TTN Truncating Variants to Dilated Cardiomyopathy

(2013) Nadine Norton et al.   Circulation-Cardiovascular Genetics

A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence

(2013) Roos F. Marsman et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genetic testing for inherited cardiac disease

(2013) Arthur A. M. Wilde et al.   Nature Reviews Cardiology

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

α-Actinin2 is required for the lateral alignment of Z discs and ventricular chamber enlargement during zebrafish cardiogenesis

(2012) Jingchun Yang et al.   FASEB JOURNAL

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations

(2012) Enkhsaikhan Purevjav et al.   HUMAN MOLECULAR GENETICS

Genetics of Hypertrophic Cardiomyopathy After 20 Years

(2012) Barry J. Maron et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy

(2011) Nadine Norton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted Next-Generation Sequencing for the Molecular Genetic Diagnostics of Cardiomyopathies

(2011) Benjamin Meder et al.   Circulation-Cardiovascular Genetics

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)

(2011) M. J. Ackerman et al.   EUROPACE

Cardiac Z-disc Signaling Network

(2011) Derk Frank et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nuclear lamins and laminopathies

(2011) Howard J. Worman   JOURNAL OF PATHOLOGY

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Cell Membrane Expression of Cardiac Sodium Channel Nav1.5 Is Modulated by α-Actinin-2 Interaction

(2009) Rahima Ziane et al.   BIOCHEMISTRY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

The vertebrate muscle Z-disc: sarcomere anchor for structure and signalling

(2009) Pradeep K. Luther   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy

(2009) Christine Chiu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

α-Actinin structure and regulation

(2008) B. Sjöblom et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

A de novo Mutation of the Beta Cardiac Myosin Heavy Chain Gene in an Infantile Restrictive Cardiomyopathy

(2008) Simon Karam et al.   Congenital Heart Disease