De novo mutations in regulatory elements in neurodevelopmental disorders

De novo mutations in regulatory elements in neurodevelopmental disorders

Nature 555, 7698 (2018). doi:10.1038/nature25983

Authors: Patrick J. Short, Jeremy F. McRae, Giuseppe Gallone, Alejandro Sifrim, Hyejung Won, Daniel H. Geschwind, Caroline F. Wright, Helen V. Firth, David R. FitzPatrick, Jeffrey C. Barrett & Matthew E. Hurles
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

Source: Nature - March 21, 2018 Category: Research Authors: Patrick J. Short Jeremy F. McRae Giuseppe Gallone Alejandro Sifrim Hyejung Won Daniel H. Geschwind Caroline F. Wright Helen V. Firth David R. FitzPatrick Jeffrey C. Barrett Matthew E. Hurles Tags: Article Source Type: research