Publications 2015-2020

Oxford Craniofacial Unit Scientific Publications 2015 - 2020

2020

Central Retinal Artery Occlusion Following Prone Transcranial Surgery for Craniosynostosis and Discussion of Risk Factors.
Roumeliotis G, Campbell S, Das S, Hildebrand GD, Issa PC, Jayamohan J, Lawrence T, Magdum S, Wall S, Johnson D.J Craniofac Surg. 2020 May 8. doi: 10.1097/SCS.0000000000006512. Online ahead of print.PMID: 32398620
pubmed.ncbi.nlm.nih.gov/32398620

Implications for the Multi-Disciplinary Management of Children With Craniofrontonasal Syndrome.
Dupré S, Care H, Gordon Z, Wall SA, Wilkie AOM, Johnson D, Kilcoyne S.J Craniofac Surg. 2020 Jun;31(4):e362-e368. doi: 10.1097/SCS.0000000000006367.PMID: 32371695
pubmed.ncbi.nlm.nih.gov/32371695

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boyadjiev SA, Wilkie AOM.Genet Med. 2020 Jun 5. doi: 10.1038/s41436-020-0817-2. Online ahead of print.PMID: 32499606.
pubmed.ncbi.nlm.nih.gov/32499606

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.
Justice CM, Cuellar A, Bala K, Sabourin JA, Cunningham ML, Crawford K, Phipps JM, Zhou Y, Cilliers D, Byren JC, Johnson D, Wall SA, Morton JEV, Noons P, Sweeney E, Weber A, Rees KEM, Wilson LC, Simeonov E, Kaneva R, Yaneva N, Georgiev K, Bussarsky A, Senders C, Zwienenberg M, Boggan J, Roscioli T, Tamburrini G, Barba M, Conway K, Sheffield VC, Brody L, Mills JL, Kay D, Sicko RJ, Langlois PH, Tittle RK, Botto LD, Jenkins MM, LaSalle JM, Lattanzi W, Wilkie AOM, Wilson AF, Romitti PA, Boyadjiev SA; National Birth Defects Prevention Study.Hum Genet. 2020 Apr 7. doi: 10.1007/s00439-020-02157-z. Online ahead of print.PMID: 32266521.
pubmed.ncbi.nlm.nih.gov/32266521

Kilcoyne S, Menon Rajan S, Dalton L, Judge A, Overton S, Wall S, Johnson D (2020) The sensitivity and specificity of parental report of concern for identifying language disorder in children with craniosynostosis: the Oxford Craniofacial Unit experience. J Craniofac Surg 2020

Hotton M, Huggons E, Hamlet C, Shore D, Johnson D, Norris JH, Kilcoyne S and Dalton L. (2020), The psychosocial impact of facial palsy: A systematic review. Br J Health Psychol. doi:10.1111/bjhp.12440

2019

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.
onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.61073

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.
www.ncbi.nlm.nih.gov/pubmed/30444782

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
www.ncbi.nlm.nih.gov/pubmed/30664558

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.
www.ncbi.nlm.nih.gov/pubmed/30817546

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.
www.ncbi.nlm.nih.gov/pubmed/30871941

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.
www.clinicsinsurgery.com/pdfs_folder/cis-v4-id2431.pdf

176P. Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, Ferlaino M, Fieggen K, Firth HV, FitzPatrick DR, Gration D, Groza T, Haendel M, Hallowell N, Hamosh A, Hehir-Kwa J, Hitz MP, Hughes M, Kini U, Kleefstra T, Kooy RF, Krawitz P, Küry S, Lees M, Lyon GJ, Lyonnet S, Marcadier JL, Meyn S, Moslerová V, Politei JM, Poulton CC, Raymond FL, Reijnders MRF, Robinson PN, Romano C, Rose CM, Sainsbury DCG, Schofield L, Sutton VR, Turnovec M, Van Dijck A, Van Esch H & Wilkie AOM; Minerva Consortium. Enabling global clinical collaborations on identifiable patient data: The Minerva initiative. Front Genet 10:611.
www.frontiersin.org/articles/10.3389/fgene.2019.00611/full

175P. Taylor J, Craft J, Blair E, Wordsworth S, Beeson D, Chandratre S, Cossins J, Lester T, Németh AH, Ormondroyd E, Patel SY, Pagnamenta AT, Taylor JC, Thomson KL, Watkins H, Wilkie AOM & Knight JC (2019). Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series. Genome Med 11:46.
genomemedicine.biomedcentral.com/articles/10.1186/s13073-019-0651-9

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
www.ncbi.nlm.nih.gov/pubmed/30664558

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.

2018

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.
www.ncbi.nlm.nih.gov/pubmed/29861108

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.
www.ncbi.nlm.nih.gov/pubmed/30040876

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
www.ncbi.nlm.nih.gov/pubmed/29303458

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
www.ncbi.nlm.nih.gov/pubmed/29194263

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.
www.ncbi.nlm.nih.gov/pubmed/30020237

Joganathan V, Terry P, Wall S, Norris JH. The Nonsurgical Management of Orbital Dystopia Using Refractive Lenses and Prosthetic Shells.
www.ncbi.nlm.nih.gov/pubmed/30052608

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.
www.ncbi.nlm.nih.gov/pubmed/30020237

Joganathan V, Terry P, Wall S, Norris JH. The Nonsurgical Management of Orbital Dystopia Using Refractive Lenses and Prosthetic Shells.
www.ncbi.nlm.nih.gov/pubmed/30052608

2017

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.
www.ncbi.nlm.nih.gov/pubmed/28538575

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.
link.springer.com/article/10.1007/s10897-017-0094-7

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]
www.ncbi.nlm.nih.gov/pubmed/28914635

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.
www.ncbi.nlm.nih.gov/pubmed/28747427

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
jmg.bmj.com/content/54/4/260

2016

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.
www.ncbi.nlm.nih.gov/pubmed/27374770

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]
www.ncbi.nlm.nih.gov/pubmed/27158814

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.
www.ncbi.nlm.nih.gov/pubmed/28005731

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]
www.ncbi.nlm.nih.gov/pubmed/27438438

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]
www.ncbi.nlm.nih.gov/pubmed/25275471

2015

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.
www.ncbi.nlm.nih.gov/pubmed/25985138

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.
www.ncbi.nlm.nih.gov/pubmed/26340333

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.
www.nature.com/ejhg/journal/v23/n12/full/ejhg201531a.html

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.
www.ncbi.nlm.nih.gov/pubmed/25162545

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.
www.ncbi.nlm.nih.gov/pubmed/25996012

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.
www.ncbi.nlm.nih.gov/pubmed

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.
www.ncbi.nlm.nih.gov/pubmed

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.
www.ncbi.nlm.nih.gov/pubmed

Last reviewed:19 April 2022

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