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Publications 1994-1999

Oxford Craniofacial Unit Scientific Publications 1994-1999


Oldridge M, Zackai EH, McDonald-McGinn DM, Iseki S, Morriss-Kay GM, Twigg SRF, Johnson D, Wall SA, Jiang W, Theda C, Jabs EW & Wilkie AOM* (1999). De novo Alu element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet 64:446-461.


Johnson D, Horsley SW, Moloney DM, Oldridge M, Twigg SRF, Walsh S, Barrow M, NjĂžlstad PR, Kunz J, Ashworth GJ, Wall SA, Kearney L & Wilkie AOM* (1998). A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am J Hum Genet 63:1282-1293.


Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken W, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Ades LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AOM & Zackai EH (1997). A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 60:555-564.

Moloney DM, Wall SA, Ashworth GJ, Oldridge M, Glass IA, Francomano CA, Muenke M & Wilkie AOM* (1997). Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet 349:1059-1062.


Slaney SF, Oldridge M, Hurst J, Morriss-Kay GM, Hall, CM, Poole MD & Wilkie AOM* (1996). Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet 58:923-932.

Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G & Wilkie AOM* (1996). Exclusive paternal origin of new mutations in Apert syndrome. Nature Genet 13: 48-53.

Wilkie AOM* & Wall SA (1996). Craniosynostosis: novel insights into pathogenesis and treatment. Curr Opin Neurol 9:146-152.


Wilkie AOM*, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, Malcolm S, Winter RM & Reardon W (1995). Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet 9:165-172.

Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, Poole MD & Wilkie AOM (1995). Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet 9:173-176.

Wilkie AOM*, Yang SP, Summers D, Poole MD, Reardon W, Winter RM. (1995). Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. J Med Genet 32:174-180.

Oldridge M, Wilkie AOM, Slaney SF, Poole MD, Pulleyn LJ, Rutland P, Hockley AD, Wake MJC, Goldin JH, Winter RM, Reardon W & Malcolm S (1995). Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. Hum Mol Genet 4:1077-1082.


Wall SA, Goldin JH, Hockley AD, Wake MJ, Poole MD, Briggs M. Fronto-orbital re-operation in craniosynostosis. Br J Plast Surg. 1994 Apr;47(3):180-4. PubMed
PMID: 8193856.

Hartley, J.A. McAdam, S.R. Das, S. Roldan, M.C. Haskell, M.K. Lee, M. Molecular and cellular pharmacology of novel photoactive psoralen and coumarin conjugates of pyrrole and imidazole-containing analogues of netropsin Anti-Cancer Drug Design, 1994; 9 (3):181-97.