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

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

Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family MembersCLINICAL PERSPECTIVE

(2015) Judith A. Groeneweg et al.   Circulation-Cardiovascular Genetics

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

(2015) Ahmed A. Alfares et al.   GENETICS IN MEDICINE

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

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The ARVD/C Genetic Variants Database: 2014 Update

(2015) Elisabetta Lazzarini et al.   HUMAN MUTATION

Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family MembersCLINICAL PERSPECTIVE

(2015) Judith A. Groeneweg et al.   Circulation-Cardiovascular Genetics

Nationwide Study on Hypertrophic Cardiomyopathy in Iceland

(2014) Berglind Adalsteinsdottir et al.   CIRCULATION

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

(2014) Trevor J. Pugh et al.   GENETICS IN MEDICINE

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

(2014) Kyle Retterer et al.   GENETICS IN MEDICINE

Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing

(2014) Yanming Feng et al.   GENETICS IN MEDICINE

Copy number variants are a common cause of non-syndromic hearing loss

(2014) A Shearer et al.   Genome Medicine

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy According to Revised 2010 Task Force Criteria With Inclusion of Non-Desmosomal Phospholamban Mutation Carriers

(2013) Judith A. Groeneweg et al.   AMERICAN JOURNAL OF CARDIOLOGY

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

(2013) Min Zhao et al.   BMC BIOINFORMATICS

A systematic approach to assessing the clinical significance of genetic variants

(2013) H Duzkale et al.   CLINICAL GENETICS

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy

(2013) Ilena Egle Astrid Li Mura et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

(2013) Tobias Eisenberger et al.   PLoS One

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy

(2012) Paul A. van der Zwaag et al.   EUROPEAN JOURNAL OF HEART FAILURE

Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy

(2012) V. Chanavat et al.   European Journal of Medical Genetics

Inherited Cardiomyopathies

(2012) Polakit Teekakirikul et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number

(2011) Benjamin J. Hindson et al.   ANALYTICAL CHEMISTRY

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

(2011) Beata A Nowakowska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Natural history of Danon disease

(2011) Dana Boucek et al.   GENETICS IN MEDICINE

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH

(2011) N. J. Neill et al.   GENOME RESEARCH

Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia–Associated Mutations From Background Genetic Noise

(2011) Jamie D. Kapplinger et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Mutations in NEXN, a Z-Disc Gene, Are Associated with Hypertrophic Cardiomyopathy

(2010) Hu Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

(2010) Sung-Hae L. Kang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption

(2010) Pallavi Gupta et al.   BASIC RESEARCH IN CARDIOLOGY

LAMP2 Microdeletions in Patients With Danon Disease

(2010) Zhao Yang et al.   Circulation-Cardiovascular Genetics

Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

(2010) Perry Elliott et al.   Circulation-Cardiovascular Genetics

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

(2010) A. McKenna et al.   GENOME RESEARCH

Fabry disease

(2010) Dominique P Germain   Orphanet Journal of Rare Diseases

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

Comprehensive Desmosome Mutation Analysis in North Americans With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

(2009) A. Dénise den Haan et al.   Circulation-Cardiovascular Genetics

Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy

(2009) David Hassel et al.   NATURE MEDICINE

Left-Dominant Arrhythmogenic Cardiomyopathy

(2008) Srijita Sen-Chowdhry et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY