[PDF] Cis-regulatory mutations in human disease. | Semantic Scholar Skip to search formSkip to main content> Semantic Scholar's Logo Search Sign InCreate Free Account You are currently offline. Some features of the site may not work correctly. DOI:10.1093/bfgp/elp021 Corpus ID: 206334231Cis-regulatory mutations in human disease. @article{Epstein2009CisregulatoryMI, title={Cis-regulatory mutations in human disease.}, author={D. Epstein}, journal={Briefings in functional genomics & proteomics}, year={2009}, volume={8 4}, pages={ 310-6 } } D. Epstein Published 2009 Biology, Medicine Briefings in functional genomics & proteomics Cis-acting regulatory sequences are required for the proper temporal and spatial control of gene expression. Variation in gene expression is highly heritable and a significant determinant of human disease susceptibility. The diversity of human genetic diseases attributed, in whole or in part, to mutations in non-coding regulatory sequences is on the rise. Improvements in genome-wide methods of associating genetic variation with human disease and predicting DNA with cis-regulatory potential are… Expand View on PubMed academic.oup.com Save to Library Create Alert Cite Launch Research Feed Share This Paper 31 CitationsHighly Influential Citations 1 Background Citations 11 View All Figures, Tables, and Topics from this paper table 1 figure 1 figure 2 Diabetes Mellitus Autistic Disorder Crohn Disease Genetic Diseases, X-Linked Disease susceptibility 31 Citations Citation Type Citation Type All Types Cites Results Cites Methods Cites Background Has PDF Publication Type Author More Filters More Filters Filters Sort by Relevance Sort by Most Influenced Papers Sort by Citation Count Sort by Recency Clinical and Phenotypic Relevance of cis‐Acting Regulatory Polymorphisms A. Liebert, B. Jones, D. Swallow Biology 2014 Save Alert Research Feed Identification of Functional cis‐regulatory Polymorphisms in the Human Genome Ivan Molineris, D. 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