Publications 2005-2009

Oxford Craniofacial Unit Scientific Publications 2005-2009

2009

Mansour SL, Twigg SRF, Freeland RM, Wall SA, Li C & Wilkie AOM (2009). Hearing loss in a mouse model of Muenke syndrome. Hum Mol Genet18:43-50

Bochukova EG, Roscioli T, Hedges DJ, Taylor IB, Johnson D, David DJ, Deininger PL & Wilkie AOM* (2009). Rare mutations of FGFR2 causing Apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. Hum Mutat 30:204-211

Twigg SRF, Versnel SL, Nürnberg G, Lees MM, Bhat M, Hammond P, Hennekam RCM, Hoogeboom AJM, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nürnberg P, Mathijssen IMJ & Wilkie AOM* (2009). Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet 84:698-705

Woods RH, Ul-Haq E, Wilkie AOM, Jayamohan J, Richards PG, Johnson D, Lester T & Wall SA (2009). Reoperation for intracranial hypertension in TWIST1 confirmed Saethre-Chotzen syndrome: a 15 year review. Plast Reconstr Surg 123:1801-1810

Kirmi O, Lo SJ, Johnson D, Anslow P. Craniosynostosis: A Radiological and Surgical Perspective. Semin Ultrasound CT and MR. 2009 Dec;30(6):492-512. Review.

Wall SA, Butler L, Bryen J, Carls PF, Greenwood S, Mcknight M, Middleton J, Saeed N (2009). Combined internal and external Le Fort 111 distraction osteogenesis - the 'elusive vector'. J Craniofac Surg 20 Suppl 2:1806-8

Eley KA, Pleat JM, Wall SA (2009). Reconstruction of a congenital nasal deformity using skin tags as a chondrocutaneous composite graft. J Cranio Surg 20(2):573-5

van der Meulen J, van der Hulst R, van Adrichem L, Arnaud E, Chin-Shong D, Duncan C, Habets E, Hinojosa J, Mthijssen I, May p, Morritt D, Nishikawa H, Noons P, Richardson D, Wall SA, van der Vlugt L, Renier D (2009). The increase of metopic synostosis: a pan European observation. J Craniofac Surg 20:283-6

2008

Marucci DD, Johnston CP, Anslow P, Jayamohan J, Richards PG, Wilkie AOM & Wall SA (2008). Implications of a vertex bulge following modified strip craniectomy for sagittal synostosis. Plast Reconstr Surg 122:217-224

Saeed NR, Wall SA, Dhariwal DK (2008). Management of positional plagiocephaly. Arch Dis Child 93(1):82-4

2007

Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifiova D, Mathijssen IMJ, Morton JEV, Ørstavik KH, Sweeney E, Wall SA, Marsh JL, Nürnberg P, Passos-Bueno MR & Wilkie AOM* (2007). RAB23 mutations in Carpenter syndrome imply an unexpected role for Hedgehog signaling in cranial suture development and obesity. Am J Hum Genet 80:1162-1170

Wilkie AOM*, Bochukova EG, Hansen RMS, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'Rourke AW, Williams LJ, Seller A & Lester T (2006). Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet 143A:1941-1949

Macintosh C, Wall s, Leach C (2007). Strabismus in unicoronal synostosis: ipsilateral or contralateral? J Craniofac Surg. 18:465-9

Morritt DG, Goodacre TE, Wall SA (2007). A paramedian cleft of the lower lip. J Carniofac Surg 18:704-6

2006

Jehee FS, Alonso LG, Cavalcanti DP, Kim C, Wall SA, Mulliken JB, Sun M, Jabs EW, Boyadjiev SA, Wilkie AOM, Passos-Bueno MR (2006). Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients. Cleft Palate Craniofac J 43:148-151

Twigg SRF, Matsumoto K, Kidd AMJ, Goriely A, Taylor IB, Fisher RB, Hoogeboom AJM, Mathijssen IMJ, Lourenço MT, Morton JEV, Sweeney E, Wilson LC, Brunner HG, Mulliken JB, Wall SA & Wilkie AOM* (2006). The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Am J Hum Genet 78:999-1010

Christofides EA, Richards P, Wall SA (2006). Late subperiosteal hematomata associated with craniofacial surgery. J Caraniofac Surg 17:390-4

Merril AE, Bochukova EG, Brugger SM, Ishii M, Pilz DT, Wall SA, Lyons KM, Wilkie AO, Maxson RE Jr (2006). Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signalling in the pathogenesis of craniosynostosis. Hum Mol Genet 15:1318-28

2005

Goriely A, McVean GAT, van Pelt AMM, O'Rourke AW, Wall SA, de Rooij DG & Wilkie AOM* (2005). Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia. Proc Natl Acad Sci USA 102:6051-6056

Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sá Moreira E, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Wilkie AOM & Passos-Bueno MR (2005). Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clin Genet 67:503-510

Thomas GPL, Wilkie AOM, Richards PG & Wall SA (2005). FGFR3 P250R mutation increases the risk of re-operation in apparent 'non-syndromic' coronal craniosynostosis. J Craniofac Surg 16:347-352

Funato N, Twigg SRF, Higashihori N, Ohyama K, Wall SA, Wilkie AOM* & Nakamura M* (2005). Functional analysis of natural mutations in two TWIST protein motifs. Hum Mutat 25:550-556

Hansen RMS, Goriely A, Wall SA, Roberts ISD & Wilkie AOM* (2005). Fibroblast growth factor receptor 2, gain-of-function mutations and tumourigenesis: Investigating a possible link. J Pathol 207:27-31