ArticleClinical chemistry2008
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.
Article in Clinical chemistry, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 39 citations in OpenAlex.
- Unveiling the spectrum of sudden cardiac death: a multidisciplinary analysis from the Friuli Venezia Giulia registry.Frontiers in cardiovascular medicine · 2025Article
- Post-mortem genetic investigation in sudden cardiac death victims: complete exon sequencing of forty genes using next-generation sequencing.International journal of legal medicine · 2022Article
- Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance.Chinese medical journal · 2019Article
- Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.Clinical case reports · 2017Article
- Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.PloS one · 2017Article
- Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.Journal of cardiovascular translational research · 2016Article
- The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers.Journal of personalized medicine · 2016Article
- Article
- Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing.Journal of translational medicine · 2014Article
- Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.Journal of medical genetics · 2013Article
- A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.Neurogenetics · 2012Article
- Deafness in the genomics era.Hearing research · 2011Review
- High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.Investigative ophthalmology & visual science · 2011Article
- Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.PloS one · 2011Article
- Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.Nucleic acids research · 2011Article
- Impact of Mendelian inheritance in cardiovascular disease.Annals of the New York Academy of Sciences · 2010Review
- Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.Human mutation · 2010Article
- Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications.The Journal of molecular diagnostics : JMD · 2010Article
- Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology.The Journal of molecular diagnostics : JMD · 2010Review
- A novel custom resequencing array for dilated cardiomyopathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2010Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDissecting the complex genetic basis of hypertrophic cardiomyopathy (HCM) may be key to both better understanding and optimally managing this most prevalent genetic cardiovascular disease. An array-based resequencing (ABR) assay was developed to facilitate genetic testing in HCM.
methodsAn Affymetrix resequencing array and a single long-range PCR protocol were developed to cover the 3 most commonly affected genes in HCM, MYH7 (myosin, heavy chain 7, cardiac muscle, beta), MYBPC3 (myosin binding protein C, cardiac), and TNNT2 [troponin T type 2 (cardiac)].
resultsThe assay detected the underlying point mutation in 23 of 24 reference samples and provided pointers toward identifying a G insertion and a 3-bp deletion. The comparability of array-based assay results to conventional capillary sequencing was > or =99.9%. Both techniques detected 1 heterozygous variant that was missed by the other method.
conclusionsThe data provide evidence that ABR can substantially reduce the high workload previously associated with a genetic test for HCM. Therefore, the HCM array could facilitate large-scale studies aimed at broadening the understanding of the genetic and phenotypic diversity of HCM and related cardiomyopathies.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.