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

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Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group

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

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(2015) Richard A. Gibbs et al.   NATURE

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

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Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing

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

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Mutation Analysis of the Main Hypertrophic Cardiomyopathy Genes Using Multiplex Amplification and Semiconductor Next-Generation Sequencing

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2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

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Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy

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A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction

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Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing

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(2014) Jana Marie Schwarz et al.   NATURE METHODS

Distinguishing Hypertrophic Cardiomyopathy-Associated Mutations from Background Genetic Noise

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Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy

(2014) Rafael Valdés-Mas et al.   Nature Communications

Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy

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A systematic approach to assessing the clinical significance of genetic variants

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Genetics of hypertrophic cardiomyopathy in Norway

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Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment

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The G263X MYBPC3 mutation is a common and low-penetrant mutation for hypertrophic cardiomyopathy in the region of Asturias (Northern Spain)

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

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Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

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Toronto Hypertrophic Cardiomyopathy Genotype Score for Prediction of a Positive Genotype in Hypertrophic Cardiomyopathy

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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

A new mutational mechanism for hypertrophic cardiomyopathy

(2012) Laura Pezzoli et al.   GENE

Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy

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Resequencing the Whole MYH7 Gene (Including the Intronic, Promoter, and 3′ UTR Sequences) in Hypertrophic Cardiomyopathy

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

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(2012) Santiago Marco-Sola et al.   NATURE METHODS

Truncations of Titin Causing Dilated Cardiomyopathy

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Predicting the Functional Effect of Amino Acid Substitutions and Indels

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Early Results of Sarcomeric Gene Screening from the Egyptian National BA-HCM Program

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

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Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure

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Genetic basis of end-stage hypertrophic cardiomyopathy

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Double or compound sarcomere mutations in hypertrophic cardiomyopathy: A potential link to sudden death in the absence of conventional risk factors

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Mortality Risk of Untreated Myosin-Binding Protein C–Related Hypertrophic Cardiomyopathy

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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 method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

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The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy

(2009) Richard D. Bagnall et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection

(2009) Daniel S Herman et al.   NATURE METHODS