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Publications 2010-2014

Oxford Craniofacial Unit Scientific Publications 2010 - 2014


Allison E, Evans RG, Wall S, Johnson D, Das S. Postoperative hypoalbuminemia following surgery related to craniosynostosis. Paediatr Anaesth. 2015 Jun 1

Fenwick AL, Goos JAC, Rankin J, Lord H, Lester T, Hoogeboom AJM, van den Ouweland AMW, Wall SA, Mathijssen IMJ & Wilkie AOM (2014). Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome. BMC Med Genet 15:95

Babbs C, Lloyd D, Pagnamenta AT, Twigg SRF, Green J, McGowan SJ, Mirza G, Naples R, Sharma VP, Volpi EV, Buckle VJ, Wall SA, Knight SJ, International Molecular Genetic Study of Autism Consortium (IMGSAC), Parr JR &51 Wilkie AOM (2014). De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. J Med Genet. 51:737-747

Dobbs TD, Watt-Smith SR, Wall SA, Johnson D. A novel use of the Rigid External Distraction Frame: Acute on-table distraction with autologous bone grafting. J Craniofac Surg. 2014, 25(5)

Thomas GP, Wall SA, Jayamohan J, Magdum SA, Richards PG, Wiberg A, Johnson D (2014). Lessons learned in posterior cranial vault distraction. J Cranio Surg 25:1721-7

Dobbs TD, Wall SA, Richards PG, Johnson D (2014). A novel technique to secure the Rigid External Distraction (RED) frame in a thin skull allowing sutural mid-face distraction. J Craniomaxillifac Surg 14

Bendon CL, Johnson D, Judge AD, Wall SA, Johnson D (2014). The aesthetic outcome of surgical correction for sagittal synostosis can be reliably scored by a novel method of preoperative and postoperative visual assessment. Plast Reconstr Surg 134:775e-86e

Wall SA, Thomas GP, Johnson D, Byren JC, Jayamohan J, Magdum SA, Mcauley DJ, Richards PG (2014). The preoperative incidence of raised intracranial pressure in nonsyndromic sagittal craniosynostosis is underestimated in the literature. J Neurosurg Pediatr 26:1-8

Erturan G, Holton J, Wall S, Giele H (2014). Bartsocas- Papas Syndrome: A Case Report and Review of the Literature. Ann Plast Surg. 2014 Sep 30


Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JAC, Hoogeboom AJM, Brady AF, Jeelani NuO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A, WGS500, Johnson D, Wall SA, van der Spek PJ, Mathijssen IMJ, Maxson RE, Twigg SRF & Wilkie AOM* (2013). Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nature Genet 45:304-307

Twigg SRF, Vorgia E, McGowan SJ, Peraki I, Fenwick AL, Sharma VP, Allegra M, Zaragkoulias A, Akha ES, Knight SJL, Lord H, Lester T, Izatt L, Lampe AK, Mohammed SN, Stewart FJ, Verloes A, Wilson LC, Healy C, Sharpe PT, Hammond P, Hughes J, Taylor S, Johnson D, Wall SA, Mavrothalassitis G & Wilkie AOM* (2013). Reduced dosage of ERF causes complex craniosynostosis in humans and mice, and links ERK1/2 signalling to regulation of osteogenesis. Nature Genet 45:308-313

Twigg SRF, Babbs C, van den Elzen MEP, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis I, Akha ES, Knight SJL, Ceide RZ, Hoogeboom AJM, Passos-Bueno MR, Pober BR, Toriello HV, Wall SA, Brunner HG, Mathijssen IMJ & Wilkie AOM* (2013). Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Hum Mol Genet 22:1654-1662

Jay S, Wiberg A, Swan M, Lester T, Williams LJ, Taylor IB, Johnson D & Wilkie AOM* (2013). The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome - history repeating itself. Am J Med Genet 161A:1158-1163

Swan MC, Scholz AF, Pretorius PM, Johnson D, Martinez-Devesa P, Wall SA. Lessons in the management of post-operative tension pneumocephalus complicating transcranial resection of advanced cutaneous tumours with free flap reconstruction. J Craniomaxillofac Surg. 2013. 41(8) 850-5

Bendon CL, Sheerin FB, Wall SA, Johnson D. The relationship between scaphocephaly at the skull vault and skull base in sagittal synsotosis. J Craniomaxillofac Surg 2013 42(3) 245-9

Henderson TO, Thomas GP, Wall SA (2013). Parental allografts in the management of Adams-Oliver syndrome. Chils Nerv Syst 29: 1223-4


Sharma VP, Wall SA, Lord H, Lester T & Wilkie AOM* (2012). Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis. Cleft Palate Craniofac J 49:373-377

Eley KA, Johnson D, Wilkie AOM, Jayamohan J, Richards P & Wall SA (2012). Raised intracranial pressure is frequent in untreated non-syndromic unicoronal synostosis and does not correlate with severity of phenotypic features. Plast Reconstr Surg 130:690e-697e

Bendon CL, Fenwick AL, Hurst JA, Nürnberg G, Nürnberg P, Wall SA, Wilkie AOM & Johnson D (2012). Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. BMC Med Genet 13:104

Thomas K, Hughes C, Johnson D, Das S. Anesthesia for surgery related to craniosynostosis: a review. Part 1. Paediatr Anaesth, 2012, 1460-9592

Hughes C, Thomas K, Johnson D, Das S. Anesthesia for surgery related to craniosynostosis: a review. Part 2. Paediatr Anaesth, 2012, 1460-9592

Wiberg A, Magdum S, Richards PG, Jayamohan J, Wall S, Johnson D. Posterior calvarial distraction in craniosynostosis - an evolving technique. J Craniomaxillofacial Surgery 2012, 799-806

Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AOM, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF & Boyadjiev SA (2012). A genome-wide association study identifies susceptibility loci for non-syndromic sagittal craniosynostosis near BMP2 and within BBS9. Nature Genet 44:1360-1364


Hurst JA, Jenkins D, Vasudevan PC, Kirchhoff M, Skovby F, Rieubland C, Gallati S, Rittinger O, Kroisel PM, Johnson D, Biesecker LG & Wilkie AOM* (2011). Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. Eur J Hum Genet 19:757-762

Nieminen P, Morgan NV, Fenwick AL, Parmanen S, Veistinen L, Mikkola ML, van der Spek PJ, Giraud A, Judd L, Arte S, Brueton LA, Wall SA, Mathijssen IMJ, Maher ER, Wilkie AOM, Kreiborg S, Thesleff I (2011). Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption and supernumerary teeth. Am J Hum Genet 89:67-81

Johnson D & Wilkie AOM* (2011). Craniosynostosis. Eur J Hum Genet 19:369-376

MacIntosh C, Johnson D, Wall S. What are the effects of metopic synostosis on visual function. J Craniofac Surg. 2011 22(4): 1280-1283


Kini U, Hurst JA, Byren JC, Wall SA, Johnson D & Wilkie AOM (2010). Etiological heterogeneity and clinical characteristics of metopic synostosis: evidence from a tertiary craniofacial unit. Am J Med Genet 152A:1383-1389

Goriely A, Lord H, Lim J, Johnson D, Lester T, Firth HV & Wilkie AOM* (2010). Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: implications for genetic testing in 'paternal age-effect' syndromes. Am J Med Genet 152A:2067-2073

Wilkie AOM*, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJL, Lester T, Richards PG, Twigg SRF & Wall SA (2010). Prevalence and complications of single gene and chromosomal disorders in craniosynostosis. Pediatrics 126:e391-e400

Bochukova EG, Soneji S, Wall SA & Wilkie AOM* (2010). Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis. J Med Genet 47:803-808

Uppal H, Issa F, Byren I, Johnson D. A case of pancalvarial osteomyelitis: Diagnosis and management. J Plast Reconstr Aesthet Surg. 2010, 63(2):e159-60

Morritt DG, Yeh FJ, Wall SA, Richards PG, Jayamohan J, Johnson D. The management of isolated sagittal synostosis in the absence of scaphocephaly: A case series of eight. Plast Reconstr Surg, 2010, 126(2):572-80

Woods RH, Johnson D. Absence of the anterior fontanelle due to a fontanellar bone. J Craniofac Surg. 2010, 21(2): 448-9