Article
De novo mutations in regulatory elements in neurodevelopmental disorders.
Nature - 29 Mar 2018
Short Patrick J, McRae Jeremy F, Gallone Giuseppe, Sifrim Alejandro, Won Hyejung, Geschwind Daniel H, Wright Caroline F, Firth Helen V, FitzPatrick David R, Barrett Jeffrey C, Hurles Matthew E
Abstract excerpt
We previously estimated that 42% of patients with severe developmental disorders carry pathogenic de novo mutations in coding sequences. The role of de novo mutations in regulatory elements affecting genes associated with developmental disorders, or other genes, has been essentially unexplored. We identified de novo mutations in three classes of putative regulatory elements in almost 8,000 patients with...
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