ArticleEMBO molecular medicine2018
Genomic structural variations lead to dysregulation of important coding and non-coding RNA species in dilated cardiomyopathy.
Article in EMBO molecular medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Clinical and genetic insights into non-compaction: a meta-analysis and systematic review on 7598 individuals.Clinical research in cardiology : official journal of the German Cardiac Society · 2019Pooled it
- Genetic and epigenetic landscape of non-familial sudden cardiac death.Molecular biology reports · 2026Review
- Unlocking the Regulatory Genome: Interpreting the Clinical Impact of Noncoding Variants in Genetic Cardiomyopathies.Circulation. Genomic and precision medicine · 2026Review
- Structural variation of the coding and non-coding human pharmacogenome.NPJ genomic medicine · 2023Article
- Facilitating genome structural variation analysis.Nature methods · 2023Article
- PGG.SV: a whole-genome-sequencing-based structural variant resource and data analysis platform.Nucleic acids research · 2023Article
- NIMA-related kinase 9 regulates the phosphorylation of the essential myosin light chain in the heart.Nature communications · 2022Article
- Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.Circulation · 2021Article
- Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know.European heart journal · 2021Review
- Mapping methylation quantitative trait loci in cardiac tissues nominates risk loci and biological pathways in congenital heart disease.BMC genomic data · 2021Article
- Differential Methylation in theInternational journal of molecular sciences · 2021Article
- The Evolving Story in the Genetic Analysis for Heart Failure.Frontiers in cardiovascular medicine · 2021Review
- Cardioinformatics: the nexus of bioinformatics and precision cardiology.Briefings in bioinformatics · 2020Article
- Recent advances on the roles of LncRNAs in cardiovascular disease.Journal of cellular and molecular medicine · 2020Review
- Review
- Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene.Journal of the American Heart Association · 2020Article
- Epigenetic Regulation of Alternative mRNA Splicing in Dilated Cardiomyopathy.Journal of clinical medicine · 2020Article
- Comparison of multiple algorithms to reliably detect structural variants in pears.BMC genomics · 2020Article
- Challenges in identifying large germline structural variants for clinical use by long read sequencing.Computational and structural biotechnology journal · 2020Review
- Antisense Transcription in Loci Associated to Hereditary Neurodegenerative Diseases.Molecular neurobiology · 2019Article
Corrections and comments
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Authors and funding
28 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The transcriptome needs to be tightly regulated by mechanisms that include transcription factors, enhancers, and repressors as well as non-coding RNAs. Besides this dynamic regulation, a large part of phenotypic variability of eukaryotes is expressed through changes in gene transcription caused by genetic variation. In this study, we evaluate genome-wide structural genomic variants (SVs) and their association with gene expression in the human heart. We detected 3,898 individual SVs affecting all classes of gene transcripts (e.g., mRNA, miRNA, lncRNA) and regulatory genomic regions (e.g., enhancer or TFBS). In a cohort of patients (
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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.