De novo mutations in regulatory elements cause neurodevelopmental disorders
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, on behalf of the DDD study
bioRxiv 112896; doi: https://doi.org/10.1101/112896