Journal Article
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
Lot Snijders Blok; Susan M. Hiatt; Kevin M. Bowling; Jeremy W. Prokop; Krysta L. Engel; J. Nicholas Cochran; E. Martina Bebin; Emilia K. Bijlsma; Claudia A. L. Ruivenkamp; Paulien Terhal; Marleen E. H. Simon; Rosemarie Smith; Jane A. Hurst; Heather McLaughlin; Richard Person; Amy Crunk; Michael F. Wangler; Haley Streff; Joseph D. Symonds; Sameer M. Zuberi; Katherine S. Elliott; Victoria R. Sanders; Abigail Masunga; Robert J. Hopkin; Holly A. Dubbs; Xilma R. Ortiz-Gonzalez; Rolph Pfundt; Han G. Brunner; Simon E. Fisher; Tjitske Kleefstra; Gregory M. Cooper
Human Genetics · Vol. 137, Issue 5 · pp. 375-388 · 2018