ArticleGenetics in medicine : official journal of the American College of Medical Genetics2010
A novel custom resequencing array for dilated cardiomyopathy.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 84 citations in OpenAlex.
- Genetics in Hypertrophic Cardiomyopathy: An Evolving Clinical Landscape.Cardiac failure review · 2026Review
- Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.The Journal of general physiology · 2025Review
- Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death.ESC heart failure · 2024Article
- Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.International journal of molecular sciences · 2024Review
- Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations.Acta physiologica (Oxford, England) · 2023Article
- The response to cardiac resynchronization therapy in LMNA cardiomyopathy.European journal of heart failure · 2022Article
- Case Report: Family Curse: AnFrontiers in cardiovascular medicine · 2022Article
- Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms.Circulation. Genomic and precision medicine · 2021Article
- New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.Human mutation · 2020Article
- Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.Molecular genetics & genomic medicine · 2020Article
- Second Hits in Dilated Cardiomyopathy.Current cardiology reports · 2020Review
- Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.American journal of human genetics · 2019Article
- Exploring the Crosstalk BetweenFrontiers in genetics · 2018Review
- Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.European journal of human genetics : EJHG · 2016Article
- Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine.Journal of personalized medicine · 2016Article
- Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome.Immunologic research · 2016Article
- The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers.Journal of personalized medicine · 2016Article
- Next-generation sequencing of 100 candidate genes in young victims of suspected sudden cardiac death with structural abnormalities of the heart.International journal of legal medicine · 2016Article
- Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.Circulation. Cardiovascular genetics · 2014Article
Corrections and comments
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Authors and funding
18 authors at 3 institutions in 1 country.
Funding
Abstract
purposeGenetic tests for the most commonly mutated genes in dilated cardiomyopathy (DCM) can confirm a clinical diagnosis in the proband and inform family management. Presymptomatic family members can be identified, allowing for targeted clinical monitoring to minimize adverse outcomes. However, the marked locus and allelic heterogeneity associated with DCM have made clinical genetic testing challenging. Novel sequencing platforms have now opened up avenues for more comprehensive diagnostic testing while simultaneously decreasing test cost and turn around time.
methodsBy using a custom design based on triplicate resequencing and separate genotyping of known disease-causing variants, we developed the DCM CardioChip for efficient analysis of 19 genes previously implicated in causing DCM.
resultsThe chip's analytical sensitivity for known and novel substitution variants is 100% and 98%, respectively. In screening 73 previously tested DCM patients who did not carry clinically significant variants in 10 genes, 7 variants of likely clinical significance were identified in the remaining 9 genes included on the chip. Compared with traditional Sanger-based sequencing, test cost and turn around time were reduced by approximately 50%.
conclusionsThe DCM CardioChip is a highly efficient screening test with a projected clinical sensitivity of 26-29%.
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Registered trials
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.