Journal article

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Aimee L Fenwick, Maciej Kliszczak, Fay Cooper, Jennie Murray, Luis Sanchez-Pulido, Stephen RF Twigg, Anne Goriely, Simon J McGowan, Kerry A Miller, Indira B Taylor, Clare Logan, Sevcan Bozdogan, Sumita Danda, Joanne Dixon, Solaf M Elsayed, Ezzat Elsobky, Alice Gardham, Mariette JV Hoffer, Marije Koopmans, Donna M McDonald-McGinn Show all

American Journal of Human Genetics | CELL PRESS | Published : 2016


Awarded by WIMM Strategic Alliance

Awarded by European Research Council (ERC)

Awarded by Newlife Foundation for Disabled Children

Awarded by Wellcome Trust

Awarded by Medical Research Council

Funding Acknowledgements

We thank the families and clinicians for their participation, the IGMM core sequencing service, staff at the High-Throughput Genomics facility at the Wellcome Trust Centre for Human Genetics (Oxford) for Illumina sequencing, Tim Forshew and Francesco Marass for primer design, and Sue Butler, John Frankland, and Tim Rostron for help with cell culture and DNA sequencing. This work was supported by funding from the Medical Research Council (MRC) (A.P.J., L.S.-P., C.P.P., W.N.) and through the WIMM Strategic Alliance (G0902418 and MC_UU_12025), the European Research Council (ERC, 281847) (A.P.J.), the Lister Institute for Preventative Medicine (A.P.J.), Medical Research Scotland (L.S.B.), Royal Society of New Zealand Rutherford Discovery Fellowship (L.S.B.), the Department of Health, UK, Quality, Improvement, Development and Initiative Scheme (QIDIS) (A.O.M.W.), Newlife Foundation for Disabled Children (SG/14-15/10 to A.O.M.W.), National Institute for Health Research (NIHR) Oxford Biomedical Research Centre Programme (A.O.M.W.), and the Wellcome Trust (Project Grant 093329 to A.O.M.W. and S.R.F.T.; Investigator Award 102731 to A.O.M.W.).