Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice

Genomic profiles of lung cancer associated with idiopathic pulmonary fibrosis

(2017) Ji An Hwang et al.   JOURNAL OF PATHOLOGY

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

(2017) Irene Mademont-Soler et al.   PLoS One

Large Genomic Imbalances in Brugada Syndrome

(2016) Irene Mademont-Soler et al.   PLoS One

CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing

(2016) Eric Talevich et al.   PLoS Computational Biology

Next-Generation Sequencing of Duplication CNVs Reveals that Most Are Tandem and Some Create Fusion Genes at Breakpoints

(2015) Scott Newman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest

(2015) Matthew J. Campbell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations

(2015) Grażyna T Truszkowska et al.   BMC Medical Genetics

Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy

(2015) L.R. Lopes et al.   European Journal of Medical Genetics

Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

(2015) Ozge Ceyhan-Birsoy et al.   Molecular Genetics & Genomic Medicine

Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology

(2014) Oscar Campuzano et al.   PLoS One

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

CONTRA: copy number analysis for targeted resequencing

(2012) Jason Li et al.   BIOINFORMATICS

Epidemiology and Genetics of Sudden Cardiac Death

(2012) Rajat Deo et al.   CIRCULATION

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Assessment of LMNA Copy Number Variation in 58 Probands with Dilated Cardiomyopathy

(2011) Nadine Norton et al.   CTS-Clinical and Translational Science

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

(2011) Michael J. Ackerman et al.   HEART RHYTHM

Brugada Syndrome Caused by a Large Deletion in SCN5A Only Detected by Multiplex Ligation-Dependent Probe Amplification

(2011) LUCAS J. EASTAUGH et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Quality Assurance for Duchenne and Becker Muscular Dystrophy Genetic Testing

(2011) Lisa Kalman et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Screening for Copy Number Variation in Genes Associated With the Long QT Syndrome

(2010) Julien Barc et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Copy number variations in three children with sudden infant death

(2009) GA Toruner et al.   CLINICAL GENETICS