Journal article

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

Stephen RF Twigg, Jennifer Forecki, Jacqueline AC Goos, Ivy CA Richardson, A Jeannette M Hoogeboom, Ans MW van den Ouweland, Sigrid MA Swagemakers, Maarten H Lequin, Daniel Van Antwerp, Simon J McGowan, Isabelle Westbury, Kerry A Miller, Steven A Wall, Peter J van der Spek, Irene MJ Mathijssen, Erwin Pauws, Christa S Merzdorf, Andrew OM Wilkie

The American Journal of Human Genetics | CELL PRESS | Published : 2015

University of Melbourne Researchers


Awarded by National Science Foundation

Awarded by Wellcome Trust

Awarded by Medical Research Council

Awarded by Great Ormond Street Hospital Childrens Charity

Funding Acknowledgements

We thank Michael Parker and Julie Phipps for assistance with subject recruitment, Sue Butler for cell culture work, and Geoff Maher and Yan Zhou for preparing and running the PGM libraries. This work was funded by the National Science Foundation (DBI-1309250 to J.F. and IOS-0846168 to C.S.M.), the Wellcome Trust (Project Grant 093329 to A.O.M.W. and S.R.F.T., Senior Investigator award 102731 to A.O.M.W.), and the Oxford NIHR Biomedical Research Centre. Members of the 500 Whole-Genome Sequences (WGS500) Consortium are listed in the Supplemental Data.