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Publications 2015-2020

Oxford Craniofacial Unit Scientific Publications 2015 - 2020


Glass GE, O'Hara J, Canham N, Cilliers D, Dunaway D, Fenwick AL, Jeelani NO, Johnson D, Lester T, Lord H, Morton JEV, Nishikawa H, Noons P, Schwiebert K, Shipster C, Taylor-Beadling A, Twigg SRF, Vasudevan P, Wall SA, Wilkie AOM, Wilson LC. ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. Am J Med Genet A. 2019 Apr;179(4):615-627. doi: 10.1002/ajmg.a.61073.Epub 2019 Feb 13.

Natghian H, Song M, Wall S, Johnson D. Review of the use of stainless wires in craniosynostosis surgery. J Craniofac Surg. 2019: DOI: 10.1097/SCS.0000000000005156

Norris JH, Longmire NM, Kilcoyne A, Johnson D, Fitzpatrick R, Klassen AF. Exploring patient experience of facial nerve palsy to inform the development of a PROM. PRS Global. 2019. doi: 10.1097/GOX.0000000000002072

Kilcoyne S, Luscombe C, Scully P, Jayamohan J, Magdum S, Wall S, Johnson D, Wilkie AOM. Language development, hearing loss and intracranial hypertension in children with TWIST-confirmed Saethre-Chotzen syndrome. J Craniofac Surg. 2019 Jul;30(5):1506-1511.

Hotton M, Kilcoyne S, Holden C, Dalton L, Norris JH, Johnson D. Addressing the physical and psychosocial needs of young people with facial palsy: Facilitation of a single session group intervention. J Plast Reconstr Aesthet Surg. 2019 Jul;72(7):1219-1243.

Chawla R, Thomas G, Johnson D. The use of a free auricular flap to reconstruct a large full thickness nasal defect. Clinics in Surgery. 2019 (4): 2431.


Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study, Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31.

Zhou Y, Koelling N, Fenwick AL, McGowan SJ, Calpena E, Wall SA, Smithson SF, Wilkie AOM, Twigg SRF. Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.
Hum Mutat. 2018 Oct;39(10):1360-1365. doi: 10.1002/humu.23598. Epub 2018 Aug 7.

Ma R, Rowland D, Judge A, Calisto A, Jayamohan J, Johnson D, Richards P Magdum S,
Wall S. Complications following intracranial pressure monitoring in children: a 6-year
single-center experience. J Neurosurg Pediatr. 2018 Mar;21(3):278-283. doi:
10.3171/2017.9.PEDS17360. Epub 2018 Jan 5

Care H, Dalton L, Johnson D.The Value of a Photobook in Informing Families About the Cosmetic Results of Surgery in Craniosynostosis. J Craniofac Surg. 2018 Jan;29(1):88-91

Natghian H, Song M, JayaMohan J, Johnson D, Magdum S, Richards P, Wall S. Long-term results in isolated metopic synostosis: The Oxford experience over 22 Years.

Care H, Horton J, Kearney A, Kennedy-Williams P, Knapp M, Rooney N, Thomas S, Evans M, James G, Johnson D, Parks C, Wall S, Dalton L. Introduction to the Craniofacial Collaboration UK: A Developmental Screening Protocol at the United Kingdom's Four Highly Specialized Craniofacial Centers.

Joganathan V, Terry P, Wall S, Norris JH. The Nonsurgical Management of Orbital Dystopia Using Refractive Lenses and Prosthetic Shells.


Dobbs TD, Salahuddin O, Jayamohan J, Richards P, Magdum S, Wall SA, Johnson D. The Management of Trigonoscaphocephaly as a Result of Combined Metopic and Sagittal Synostosis.
Plast Reconstr Surg. 2017 Jun;139(6):1325e-1332e. doi: 10.1097/PRS.0000000000003371.

Phipps, J. and Skirton, H., 2017. A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners. Journal of Genetic Counseling, pp.1-13.

Wilkie AOM, Johnson D, Wall SA. Clinical genetics of craniosynostosis. Curr Opin Pediatr. 2017 Dec;29(6):622-628. doi: 10.1097/MOP.0000000000000542. PMID: 28914635 [PubMed - in process]

Schwerd T, Twigg SRF, Aschenbrenner D, Manrique S, Miller KA, Taylor IB, Capitani M, McGowan SJ, Sweeney E, Weber A, Chen L, Bowness P, Riordan A, Cant A, Freeman AF, Milner JD, Holland SM, Frede N, Müller M, Schmidt-Arras D, Grimbacher B, Wall SA, Jones EY, Wilkie AOM, Uhlig HH. A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis. J Exp Med. 2017 Sep 4;214(9):2547-2562. doi: 10.1084/jem.20161810. Epub 2017 Jul 26.

Miller KA, Twigg SR, McGowan SJ, Phipps JM, Fenwick AL, Johnson D, Wall SA, Noons P, Rees KE, Tidey EA, Craft J, Taylor J, Taylor JC, Goos JA, Swagemakers SM, Mathijssen IM, van der Spek PJ, Lord H, Lester T, Abid N, Cilliers D, Hurst JA, Morton JE, Sweeney E, Weber A, Wilson LC, Wilkie AO.
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
J Med Genet. 2017 Apr;54(4):260-268. doi: 10.1136/jmedgenet-2016-104215. Epub 2016 Nov 24


Fenwick AL, Kliszczak M, Cooper, Murray J, Sanchez-Pulido L, Twigg SRF, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C, WGS500 Consortium, Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJV, Koopmans M, McDonald-McGinn DM, Santen GWE, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Ozalp Yuregir O, Zackai EH, Ponting CP, Jackson AP, Wilkie AOM, Niedzwiedz W, Bicknell LS (2016). Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis. Am J Hum Genet in press.

152P. Goos JAC, Fenwick AL, Swagemakers SMA, McGowan SJ, Knight SJL, Twigg SRF, Hoogeboom AJ, van Dooren MF, Magielsen FJ, Wall SA, Mathijssen IMJ, Wilkie AOM, van der Spek PJ, van den Ouweland AMW. Identification of intragenic exon deletions and duplication of TCF12 by whole genome or targeted sequencing as a cause of TCF12-related craniosynostosis. Hum Mutat. 2016 May 9. doi: 10.1002/humu.23010. [Epub ahead of print]

Dobson H, Wall S. Publication Rates of Studies Presented at the International Society of Craniofacial Surgery Congress. J Craniofac Surg. 2016 Nov;27(8):1943-1945. doi: 10.1097/SCS.0000000000003016. Review.

Eley KA, Thomas GP, Sheerin F, Cilliers D, WallS, Johnson D. The Significance of Squamosal Suture Synostosis.
J Craniofac Surg. 2016 Sep;27(6):1543-9. doi: 10.1097/SCS.0000000000002888. PMID: 27438438 [PubMed - indexed for MEDLINE]

Erturan G, Holton J, Wall S, Giele H. Bartsocas-Papas Syndrome: A Case Report and Review of the Literature.
Ann Plast Surg. 2016 Apr;76(4):459-62. doi: 10.1097/SAP.0000000000000348. Review. PMID: 25275471 [PubMed - indexed for MEDLINE]


144P. Taylor JC, Martin HC, Lise S, Broxholme J, Cazier J-B, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight J, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Thakker RV, Tomlinson I, Trebes A, Twigg SRF, Uhlig H, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AOM, Bentley D, Donnelly P & McVean G. Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nature Genet 47:717-726.

145P Twigg SRF, Forecki J, Goos JAC, Richardson ICA, Hoogeboom AJM, Van den Ouweland AMW, Swagemakers SMA, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA, WGS500 Consortium, van der Spek PJ, Mathijssen IMJ, Pauws E, Merzdorf CS & Wilkie AOM (2015). Gain-of-function mutations in ZIC1 are associated with coronal craniosynostosis and learning disability. Am J Hum Genet 97:378-388.

147P. Fennell N, Foulds N,Johnson DS, Wilson LC, Wyatt M, Robertson SP, Johnson D, Wall SA & Wilkie AOM* (2015). Association of mutations in FLNA with craniosynostosis. Eur J Hum Genet 23:1684-1688.

Postoperative hypoalbuminemia following surgery related to craniosynostosis.
Allison E, Evans RG, Wall S, Johnson D, Das S. Paediatric Anaesthesia 2015 Sep;25(9):924-8. doi: 10.1111/pan.12689. Epub 2015 Jun 1.

Thomas GP, Johnson D, Byren JC, Judge AD, Jayamohan J, Magdum SA, Richards PG, Wall SA. Periodical shifts in the surgical correction of sagittal craniosynostosis. J Neurosurg Pediatr. 2015 Apr;15(4):348-9. No abstract available.

Thomas GP, Johnson D, Byren JC, Jayamohan J, Magdum SA, Richards PG, Wall SA. Long-term morphological outcomes in nonsyndromic sagittal craniosynostosis: a comparison of 2 techniques. J Craniofac Surg. 2015 Jan;26(1):19-25. doi: 10.1097/SCS.0000000000001107.

Thomas GP, Johnson D, Byren JC, Judge AD, Jayamohan J, Magdum SA, Richards PG, Wall SA. The incidence of raised intracranial pressure in nonsyndromic sagittal craniosynostosis following primary surgery.
J Neurosurg Pediatr. 2015 Apr;15(4):350-60. doi: 10.3171/2014.11.PEDS1426. Epub 2015 Jan 10.

Inciarte MA, Thomas GP, Wall SA Johnson D.
An Effective and Novel Technique for Hair Control in Craniofacial Surgery. Plast Reconstr Surg. 2015 Aug; 136(2):285e-286e. doi: 10.1097/PRS.0000000000001440. No abstract available.