Identification of Intragenic Exon Deletions and Duplication ofTCF12by Whole Genome or Targeted Sequencing as a Cause ofTCF12-Related Craniosynostosis

• Jacqueline A.C. Goos, Aimee L. Fenwick, Sigrid M.A. Swagemakers, Simon J. McGowan, Samantha J.L. Knight, Stephen R.F. Twigg, A. Jeannette M. Hoogeboom, Marieke F. van Dooren, Frank J. Magielsen, Steven A. Wall, Irene M.J. Mathijssen, Andrew O.M. Wilkie, Peter J. van der Spek, Ans M.W. van den Ouweland

• Human Mutation, June 2016, Wiley
• DOI: 10.1002/humu.23010