Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience

(2013) Karin Y. van Spaendonck-Zwarts et al.   EUROPEAN JOURNAL OF HEART FAILURE

Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

(2012) Iacopo Olivotto et al.   MAYO CLINIC PROCEEDINGS

Direct Comparisons of Illumina vs. Roche 454 Sequencing Technologies on the Same Microbial Community DNA Sample

(2012) Chengwei Luo et al.   PLoS One

A probabilistic method for the detection and genotyping of small indels from population-scale sequence data

(2011) Vikas Bansal et al.   BIOINFORMATICS

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

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

Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing

(2011) Magdalena Harakalova et al.   Nature Protocols

High-quality DNA sequence capture of 524 disease candidate genes

(2011) P. Shen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

(2011) I. Christiaans* et al.   Netherlands Heart Journal

A Common MLP (Muscle LIM Protein) Variant Is Associated With Cardiomyopathy

(2010) Ralph Knöll et al.   CIRCULATION RESEARCH

A ZASP Missense Mutation, S196L, Leads to Cytoskeletal and Electrical Abnormalities in a Mouse Model of Cardiomyopathy

(2010) Zhaohui Li et al.   Circulation-Arrhythmia and Electrophysiology

The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy

(2010) Yvonne M. Hoedemaekers et al.   Circulation-Cardiovascular Genetics

Coding Sequence Rare Variants Identified in MYBPC3 , MYH6 , TPM1 , TNNC1 , and TNNI3 From 312 Patients With Familial or Idiopathic Dilated Cardiomyopathy

(2010) Ray E. Hershberger et al.   Circulation-Cardiovascular Genetics

Experiences with array-based sequence capture; toward clinical applications

(2010) Rowida Almomani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy

(2010) Gilles Millat et al.   European Journal of Medical Genetics

A novel custom resequencing array for dilated cardiomyopathy

(2010) Rebekah S Zimmerman et al.   GENETICS IN MEDICINE

Small insertions and deletions (INDELs) in human genomes

(2010) J. M. Mullaney et al.   HUMAN MOLECULAR GENETICS

Massively parallel sequencing of ataxia genes after array-based enrichment

(2010) Alexander Hoischen et al.   HUMAN MUTATION

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations

(2010) Juergen Scharner et al.   HUMAN MUTATION

Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond

(2010) Akinori Kimura   JOURNAL OF HUMAN GENETICS

Evaluation of Second-Generation Sequencing of 19 Dilated Cardiomyopathy Genes for Clinical Applications

(2010) Sivakumar Gowrisankar et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Next generation sequencing in research and diagnostics of ocular birth defects

(2010) Gordana Raca et al.   MOLECULAR GENETICS AND METABOLISM

Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy

(2009) T. Arimura et al.   CARDIOVASCULAR RESEARCH

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

(2009) Jamie D. Kapplinger et al.   HEART RHYTHM

Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction

(2008) Sabine Klaassen et al.   CIRCULATION

Absence of a Trafficking Defect in R1232W/T1620M, a Double SCN5A Mutant Responsible for Brugada Syndrome

(2008) Naomasa Makita et al.   CIRCULATION JOURNAL

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy

(2008) Christian Geier et al.   HUMAN MOLECULAR GENETICS

Hypertrophic cardiomyopathy: current understanding and treatment objectives

(2008) G S Soor et al.   JOURNAL OF CLINICAL PATHOLOGY

Dilated cardiomyopathy: a review

(2008) A Luk et al.   JOURNAL OF CLINICAL PATHOLOGY