De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Blok, L.S.; Hiatt, S.M.; Bowling, K.M.; Prokop, J.W.; Engel, K.L.; Cochran, J.N.; ... ; DDD Study (2018)

Article / Letter to editor

• All authors: Blok, L.S.; Hiatt, S.M.; Bowling, K.M.; Prokop, J.W.; Engel, K.L.; Cochran, J.N.; Bebin, E.M.; Bijlsma, E.K.; Ruivenkamp, C.A.L.; Terhal, P.; Simon, M.E.H.; Smith, R.; Hurst, J.A.; McLaughlin, H.; Person, R.; Crunk, A.; Wangler, M.F.; Streff, H.; Symonds, J.D.; Zuberi, S.M.; Elliott, K.S.; Sanders, V.R.; Masunga, A.; Hopkin, R.J.; Dubbs, H.A.; Ortiz-Gonzalez, X.R.; Pfundt, R.; Brunner, H.G.; Fisher, S.E.; Kleefstra, T.; Cooper, G.M.; DDD Study
• Date: 2018-05-31
• Journal: Human Genetics
• Volume: 137
• Issue: 5
• Pages: 375 - 388
• DOI: doi:10.1007/s00439-018-1887-y
• Link: https://link.springer.com/content/pdf/10.1007/s00439-018-1887-y.pdf