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. ZuberiKatherine 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, DDD Study

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)375-388
Number of pages14
JournalHuman Genetics
Volume137
Issue number5
DOIs
Publication statusPublished - 1 May 2018

Keywords

  • SYNDROMIC INTELLECTUAL DISABILITY
  • AUTISM SPECTRUM DISORDER
  • MODULE ASSOCIATION
  • MISSENSE MUTATIONS
  • NEXT-GENERATION
  • GENE
  • TRANSCRIPTION
  • PREVALENCE
  • DIAGNOSIS
  • FRAMEWORK

Cite this

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., ... DDD Study (2018). De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Human Genetics, 137(5), 375-388. https://doi.org/10.1007/s00439-018-1887-y