Mr David Johnson

CAMBRIDGE UNIVERSITY:

Skerne Scholarship, 1989 - This scholarship was awarded for obtaining a First Class Honours Degree.

Belfield-Clarke Prize for Biological Sciences, 1989 - This prize was awarded by St Catharine’s College for obtaining the top First Class Honours Degree in Pathology in the University.

OXFORD UNIVERSITY:

Ida Mary Henderson Scholarship to Christ Church, 1989 - This scholarship was awarded for gaining entry to Christ Church with a First Class Honours Degree from Cambridge University.

POST-GRADUATE:

Conrad Lewin Prize, 1994 - This prize was awarded for the best presentation of original research at The Joint Meeting of the British and French Associations of Clinical Anatomists, Dec. 1994. Title: The abdominal subcutaneous tissue - anatomical observations using computed tomography.

Oxford Regional Registrar's Prize, 1997 - This prize was awarded for the best presentation of original research at The Oxford Regional General Surgical Meeting, held at Kettering, April 1997. Title: The difficulties in diagnosing breast cancer in the immediate pre-screening age group.

Wellcome Research Training Fellowship, 1998 - This training fellowship is awarded by direct competition at interview following an application for a research grant. Title: A comprehensive screen of genes implicated in craniosynotosis.

Hunterian Professorship 2001/2002 - This is a very prestigious award given by the Royal College of Surgeons of England. Title of oration lecture: A comprehensive screen of genes implicated in craniosynotosis. Delivered at the RCS, London on 29th November, 2001

British Association of Plastic Surgeons Travelling Bursary 2005 – This is a competitive grant awarded to senior trainees to gain experience in the field of plastic surgery abroad which is unavailable in the candidate’s home unit. This was awarded for my Fellowship in Craniofacial Surgery in Adelaide.

RCS of England Ethicon Foundation Fellowship Award 2005 - This is a competitive grant awarded to senior trainees who are undertaking specialist fellowship training programmes. This was awarded for my Fellowship in Craniofacial Surgery in Adelaide.

Founder and Clinical Lead of the Oxford Facial Palsy Service. 2012-date – This is one of only a few units in the UK to provide multidisciplinary care to patients with facial palsy.

Senior Examiner for the FRCS Plast examinations. 2012-date – This is the final examination for plastic surgery trainees. Senior trainees need to pass this exam in order to become consultants. Becoming a Senior Examiner is by invitation only.

Director of the Oxford Craniofacial Unit. 2014-date – This is one of only 4 National Designated Units in England for treating children with rare craniofacial conditions. I lead the multidisciplinary team in Oxford which comprises 30 members.

Bronze National Clinical Excellence Award 2015 - This is a prestigious and significant achievement of public acknowledgement of professional expertise and sustained and dedicated contribution to the NHS over and above contractural requirements.

President of the European Society of Craniofacial Surgery. 2018-2022 – This is a very prestigious elected appointment. I will be the President of this Society for 4 years and will host the biennial conference of the European Society of Craniofacial Surgery in Oxford in September 2022.

Silver National Clinical Excellence Award 2019 - This is a prestigious and significant achievement of public acknowledgement of professional expertise and sustained and dedicated contribution to the NHS over and above contractural requirements.

Johnson D, Whitaker RH. A graphic, three-dimensional teaching model to demonstrate the topography of the human heart. Clin Anat 1995; 8: 407-411.

Johnson D, Cormack G, Abrahams PH, Dixon AK. Computed tomographic observations on subcutaneous fat: implications for liposuction. Plast Reconstr Surg 1996; 97: 387-395.

Johnson D, Dixon AK, Abrahams PH. The anatomical subcutaneous tissue: computed tomographic, magnetic resonance, and anatomical observations. Clin Anat 1996; 9: 19-24.

Johnson D, Hamer DB. Perforation of the transverse colon as a result of minor blunt abdominal trauma. [case report] Injury 1997; 28: 421-423.

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

Johnson D, Coleman DJ. The selective use of a single stage and a two stage technique for hypospadias correction in 157 consecutive cases with the aim of normal appearance and function. Br J Plast Surg 1998; 51: 195-201.

Johnson D, Harrison DH. A technique for repairing massive ventral incisional hernias without the use of a mesh. Br J Plast Surg 1999; 52: 399-403.

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

Johnson D, Iseki S, Wilkie AOM, Morriss-Kay GM. Expression patterns of Twist and Fgfr1, -2, and -3 in the developing mouse coronal suture suggest a key role for Twist in suture initiation and biogenesis. Mech Dev 2000; 91: 341-345.

Johnson D, Wall SA, Mann S, Wilkie AOM. A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis? Eur J Hum Genet 2000; 8: 571-577.

Johnson D, Coleman DJ. Ink used as first aid treatment of a scald. Burns 2000; 26: 507-508.

Glaser RL, Jaing W, Boyadjiev SA, Tran AK, Zachary AA, Maldergem LV Johnson D, Walsh S, Oldridge M, Wall SA Wilkie AOM Jabs EW. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet 2000; 66: 768-777.

Johnson D, Wilkie AOM. Pfeiffer syndrome is not caused by haploinsufficient mutations of FGFR2. J Craniofac Genet Dev Biol 2000; 20: 109-111.

Johnson D, Pathirana PDR. Toxic shock syndrome following cessation of prophylactic antibiotics in a child with a 2% scald. Burns 2002, 28: 181-184.

Kan S, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SRF, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AOM. Genomic screening of fibroblast growth factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet, 2002, 70: 472-486.

Johnson D, Whitworth IH. Recent developments in plastic surgery. BMJ, 2002, 325:319-322.

Kan S, Johnson D, Giele H, Wilkie AOM. An acceptor splice site mutation in HOXD13 results in variable hand but consistent foot malformations. Am J Med Genet, 2003, 121:69-74.

Johnson D, Kan S, Oldridge M, Trembath RC, Roche P, Esnouf RM, Giele H, Wilkie AOM. Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet, 2003, 72:984-997.

Johnson D. A comprehensive screen of genes implicated in craniosynostosis. Ann R Coll Surg Engl. 2003,85:371-377.

Johnson D, Tiernan E, Richards AM, Cole RP. Dynamic external fixation for complex intra-articular phalangeal fractures. J Hand Surg, 2004, 29B1:76-81.

Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sa Moreira E, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clin Genet. 2005, 67(6):503-10.

Bochukova E, Roscioli T, Taylor I, Johnson D, David D, Deininger P, Wilkie AOM. 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. 2009; 30(2):204-11.

Furniss D, Kan SH, Taylor IB, Johnson D, Critchley PS, Giele HP, Wilkie AO. Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery. J Med Genet. 2009: 46(11): 730-5.

Twigg SRF, Versnel SL, Nurnberg G, Lees MM, Bhat M, Hammond P, Hennekam RCM, Hoogeboom AJM, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerelli D, Nurnberg P, Mathijseen IMJ, Wilkie AOM. Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet. 2009; 84(5): 698-705.

Woods RH, Ul-Haq E, Wilkie AOM, Jayamohan J, Richards PG, Johnson D, Lester T, Wall SA. Reoperation for Intracranial Hypertension in TWIST1-Confirmed Saethre-Chotzen Syndrome: A 15-Year Review. Plast Reconstr Surg, 2009, 123 (6): 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.

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.

Kini U, Hurst J, Byren J, Wall S, Johnson D, Wilkie AOM. Etiological heterogeneity and clinical characteristics of metopic synostosis: evidence from a Tertiary Craniofacial Unit. Am J Med Genet. 2010, 152A(6): 1383-9.

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.

Wilkie AO, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJ, Lester T, Richards PG, Twigg SR, Wall SA. Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Pediatrics. 2010 Aug;126(2):e391-400.

Goriely A, Lord H, Lim J, Johnson D, Lester T, Firth HV, Wilkie AO. 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 A. 2010 Aug;152A(8):2067-73.

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

Johnson D, Giele H J. Restoration of the nail apparatus following fingertip amputation by perionychial grafts supported by local flaps, in children and adults. J Plast Reconstr Aesthet Surg. 2011:64:776-781.

Johnson D, Wilkie AOM. Craniosynostosis. Eur J Hum Genet. 2011: 19: 369-376.

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

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

Eley KA, Johnson D, Wilkie AOM, Jayamohan J, Richards P, Wall SA. Raised intracranial pressure is frequent in untreated nonsyndromic unicoronal synostosis and does not correlate with severity of phenotypic features. Plast Reconstr Surg, 2012, 130(5): 690-697.

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.

Bendon CL, Fenwick AL, Nurnberg G, Nurnberg P, Wall SA, Wilkie AOM, Johnson D. Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. BMC Med Genet. 2012, 13, 104-111.

Twigg SR, Vorgia E, McGowan SJ, Peraki I, Fenwick AL, Sharma VP, Allegra M, Zaragkoulias A, Sadighi Akha E, Knight SJ, 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 AO. Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERF1/2 signalling to regulation of osteogenesis. Nat Genet. 2013;45(3):308-13.

Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A; 500 Whole-Genome Sequences (WGS500) Consortium, Johnson D, Wall SA, van der Spek PJ, Mathijssen IM, Maxson RE, Twigg SR, Wilkie AO. Nat Genet. 2013 Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet. 2013, 45(3):304-7.

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

Salimi M, Barlow JL, Saunders SP, Luzheng X, Gutowska-Owsiak D, Wang X, Li-Chieh H, Johnson D, Scanlon ST, McKenzie ANJ, Fallon PG, Ogg GS. A role for IL-25 and IL-33-driven trpe-2 innate lymphoid cells in atopic dermatitis. J Exp Med, 2013.

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. 2014, 42(3): 245-9.

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 HP, 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

Thomas GPL, 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; 26: 19-25.

Fennell N, Foulds N, Johnson DS, Wilson LC, Wyatt M, Robertson SP, Johnson D, Wall SA, Wilkie AO. Association of mutations in FLNA with craniosynostosis. Eur J Hum Genet. 2015; 23(12): 1684-8.

Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, 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 JC, 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-Echeverry 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, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, 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 AO, Bentley D, Donnelly P, McVean G. Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nat Genet. 2015; 47(7): 717-26.

Inciarte MA, Thomas GP, Wall SA, Johnson D. An effective and novel technique for hair control in craniofacial surgery. Plast Reconstr Surg. 2015; 136(2):285e-286e.

Allison E, Evans RG, Wall S, Johnson D, Das S. Postoperative hypoalbuminemia following surgery related to craniosynostosis. Paediatr Anaesth. 2015; 25(9): 924-8.

Thomas GPL, 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; 15: 350-60.

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; 15(4):348-9.

Salimi M, Subramaniam S, Selvakumar T, Wang X, Zemenides S, Johnson D, Ogg G. Enhanced isolation of lymphoid cells from human skin. Clin Exp Dermatol. 2016; 41: 552-556.

Jarrett R, Salio M, Lloyd-Lavery A, Subramaniam S, Bourgeois E, Archer C, Cheung KL, Hardman C, Chandler D, Salimi M, Gutowska-Owsiak D, Bernardino de la Serna J, Fallon PG, Jolin H, Mckenzie A, Dziembowski A, Podobas EI, Bal W, Johnson D, Moody DB, Cerundolo V, Ogg G. Filaggrin inhibits generation of CD1a neolipid antigens by house dust mite derived phospholipase. Sci Transl Med. 2016; 10;8(325):325ra18

Stewart CM, Tan LT, Johnson D, Norris JH. Key issues when reconstructing extensive upper eyelid defects with description of a dynamic, frontalis turnover flap. Ophthal Plast Reconstr Surg. 2016 Jul-Aug;32(4):249-51.

Eley KA, Thomas GP, Sheerin F, Cilliers D, Wall S, Johnson D. The significance of squamosal suture synostosis. J Craniofac Surg. 2016 Sep;27(6):1543-9.

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 139(6): 1325e-1332e.

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; 54(4):260-268.

Libby J, Marghoub A, Johnson D, Khonsari RH, Fagan MJ, Moazen M. Modelling human skull growth: a validated computational model. J R Soc Interface. 2017;14(130). pii: 20170202. doi: 10.1098/rsif.2017.0202.

Wilkie AOM, Johnson D, Wall SA. Clinical genetics of craniosynostosis. Curr Opin Pediatr. 2017; 29(6):622-628.

Hardman CS, Chen YL, Salimi M, Jarrett R, Johnson D, J ärvinen VJ, Owens RJ, Repapi E, Cousins DJ, Barlow JL, McKenzie ANJ, Ogg G. CD1a representation of endogenous antigens by group 2 innate lymphoid cells. Sci Immunol. 2017 Dec 22;2(18). pii: eaan5918. doi10.1126/sciimmunol.aan5918.

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, JohnsonD, Magdum S, Richards P, Wall S. Long-term results in isolated metopic synostosis: The Oxford experience over 22 years. Plast Reconstr Surg. 2018 142(4) 509e-5155

Thomas GPL, Magdum SA, Saeed NR, Johnson D. Multisuture craniosynostosis and papilledema in pycnodysostosis: A paradox? J Craniofac Surg. 2018 doi: 10.1097/SCS.0000000000004870

Shaw AV, Jayamohan J, Sheerin F, Johnson D. Staged raising of a coronal flap for fronto-orbital advancement and remodeling in Saethre-Chotzen syndrome complicated by sinus pericranii. J Craniofac Surg. 2018 29(7): 1956-59.

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.

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.

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.

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. J Craniofac Surg. 2019 30 (1):83-86.

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: A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis. Hum Genet. 2020 Apr 7. doi: 10.1007/s00439-020-02157-z. [Epub ahead of print]

Dupre S, Care H, Gordon Z, Wall S, Wilkie A, Johnson D, Kilcoyne S. Implications for the multi-disciplinary management of children with craniofrontonasal syndrome: A 38-year review of patients at the Oxford Craniofacial Unit. J Craniofac Surg 2020 Jun;31(4):e362-e368.

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, Boardman-Pretty F; Genomics England Research Consortium, Boyadjiev SA, Wilkie AOM. SMAD6 variants in craniosynostosis: genotype and phenotype evaluation. Genet Med. 2020 Sep;22(9):1498-1506. 

Kilcoyne S, Potter KR, Gordon Z, Overton S, Brockbank S, Jayamohan J, Magdum S, Smith M, Johnson D, Wall S, Wilkie AOM. Feeding, communication, hydrocephalus, and intracranial hypertension in patients with severe-associated Pfeiffer syndrome. J Craniofac Surg. 2020 Oct 15.

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. A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic synostosis. National Birth Defects Prevention Study. Hum Genet. 2020 Aug;139(8):1077-1090. 

Hotton M, Huggons E, Hamlet C, Shore D, Johnson D, Norris JH, Kilcoyne S, Dalton L. A systematic review of the psychosocial adjustment of children and adolescents with facial palsy: The impact of Moebius syndrome. Int J Environ Res Public Health. 2020 Jul 30;17(15):5528.

Hotton M, Huggons E, Hamlet C, Shore D, Johnson D, Norris JH, Kilcoyne S, Dalton L. The psychosocial impact of facial palsy: A systematic review. Br J Health Psychol. 2020 Sep;25(3):695-727. 

Care H, Kennedy-Williams P, Cunliffe A, Denly S, Horton J, Kearney A, O'Leary G, Piggott K, Pinckston M, Rooney N, Wall S, Johnson D, Dalton L. Craniofacial Collaboration UK: Developmental outcomes in 5-year-old children with sagittal synostosis. J Craniofac Surg. 2020 Sep 3. doi: 10.1097/SCS.0000000000006973. Online ahead of print. PMID: 32890144.

Roumeliotis G, Campbell S, Das S, Hildebrand GD, Charbel Issa P, Jayamohan J, Lawrence T, Magdum S, Wall S, Johnson D. Central retinal artery occlusion following prone transcranial surgery for craniosynostosis and discussion of risk factors. J Craniofac Surg. 2020 Sep;31(6):1597-1601.

Chen YL, Gomes T, Hardman CS, Vieira Braga FA, Gutowska-Owsiak D, Salimi M, Gray N, Duncan DA, Reynolds G, Johnson D, Salio M, Cerundolo V, Barlow JL, McKenzie ANJ, Teichmann SA, Haniffa M, Ogg G. Re-evaluation of human BDCA-2+DC during acute sterile skin inflammation. J Exp Med. 2020 Mar 2;217(3):jem.20190811. doi: 10.1084/jem.20190811.

Kilcoyne S, Rogers C, Thomas GPL, Wall S, Johnson D. Craniofacial Surgery-Related Hashtag Utilisation on Instagram. J Craniofac Surg. 2021 Mar 22. doi: 10.1097/SCS.0000000000007593. Epub ahead of print. PMID: 33770046.

Roumeliotis G, Inciarte M, Thomas G, Wall S, Mathijssen I, Johnson D. Congenital ossification defects of the frontal bone: Description of a novel clinical entity and the management of four patients. J Craniofac Surg. 2021 32(1): 92-96.

Roumeliotis G, Wiberg A, Thomas G, Magdum S, Jayamohan J, Wall S, Johnson D. An Integrated Approach to the Management of Meningoencephalocoeles. J Craniofac Surg. 2021 May 1;32(Suppl 3):1280-1284. doi: 10.1097/SCS.0000000000007678. PMID: 33770051

Care H, Kennedy-Williams P, Culshaw L, Cunliffe A, Denly S, Horton J, Kearney A, O'Leary G, Piggott K, Pinckston M, Rooney N, Wall S, Johnson D, Dalton L. Craniofacial Collaboration UK: Developmental Outcomes in 5-Year-Old Children With Sagittal Synostosis. J Craniofac Surg. 2021 Jan-Feb 01;32(1):51-54. doi: 10.1097/SCS.0000000000006973. PMID: 32890144

van Woerden GM, Bos M, de Konink C, Distel B, Avagliano Trezza R, Shur NE, Barañano K, Mahida S, Chassevent A, Schreiber A, Erwin AL, Gripp KW, Rehman F, Brulleman S, McCormack R, de Geus G, Kalsner L, Sorlin A, Bruel AL, Koolen DA, Gabriel MK, Rossi M, Fitzpatrick DR, Wilkie AOM, Calpena E, Johnson D, Brooks A, van Slegtenhorst M, Fleischer J, Groepper D, Lindstrom K, Innes AM, Goodwin A, Humberson J, Noyes A, Langley KG, Telegrafi A, Blevins A, Hoffman J, Guillen Sacoto MJ, Juusola J, Monaghan KG, Punj S, Simon M, Pfundt R, Elgersma Y, Kleefstra T. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Hum Mutat. 2021 Apr;42(4):445-459. doi: 10.1002/humu.24176. Epub 2021 Mar 1. PMID: 33565190

Kennedy-Williams P, Care H, Dalton L, Horton J, Kearney A, Rooney N, Hotton M, Pinckston M, Huggons E, Culshaw L, Kilcoyne S, Johnson D, Wilkie AOM, Wall S. Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis. J Craniofac Surg. 2021 May 1;32(Suppl 3):1263-1268. doi:10.1097/SCS.0000000000007535. PMID: 33904513

Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR, Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. J Med Genet. 2021 Jan 12:jmedgenet-2020-107459. doi: 10.1136/jmedgenet-2020-107459. Online ahead of print. PMID: 33436522

Klassen AF, Rae C, Gallo L, Norris JH, Bogart K, Johnson D, Van Laeken N, Baltzer HL, Murray DJ, Hol MLF, O T, Wong Riff KWY, Cano SJ, Pusic AL. Psychometric Validation of the FACE-Q Craniofacial Module for Facial Nerve Paralysis. Facial Plast Surg Aesthet Med. 2021 Apr 7. doi: 10.1089/fpsam.2020.0575. Online ahead of print. PMID: 33826408

Kilcoyne S, Potter KR, Gordon Z, Overton S, Brockbank S, Jayamohan J, Magdum S, Smith M, Johnson D, Wall S, Wilkie AOM. Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome. J Craniofac Surg. 2021 Jan-Feb 01;32(1):134-140. doi: 10.1097/SCS.0000000000007153. PMID: 33074973

van Woerden GM, Bos M, de Konink C, Distel B, Avagliano Trezza R, Shur NE, Barañano K, Mahida S, Chassevent A, Schreiber A, Erwin AL, Gripp KW, Rehman F, Brulleman S, McCormack R, de Geus G, Kalsner L, Sorlin A, Bruel AL, Koolen DA, Gabriel MK, Rossi M, Fitzpatrick DR, Wilkie AOM, Calpena E, Johnson D, Brooks A, van Slegtenhorst M, Fleischer J, Groepper D, Lindstrom K, Innes AM, Goodwin A, Humberson J, Noyes A, Langley KG, Telegrafi A, Blevins A, Hoffman J, Guillen Sacoto MJ, Juusola J, Monaghan KG, Punj S, Simon M, Pfundt R, Elgersma Y, Kleefstra T. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Hum Mutat. 2021 Apr;42(4):445-459. doi: 10.1002/humu.24176. Epub 2021 Mar 1. PMID: 33565190

Kilcoyne S, Luscombe C, Scully P, Overton S, Brockbank S, Swan MC, Johnson D, Wall S, Wilkie AOM. Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation. J Craniofac Surg. 2021 Jul 23. doi: 10.1097/SCS.0000000000008019. Online ahead of print. PMID: 34310431

Kennedy-Williams P, Care H, Dalton L, Horton J, Kearney A, Rooney N, Hotton M, Pinckston M, Huggons E, Culshaw L, Kilcoyne S, Johnson D, Wilkie AOM, Wall S. Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis. J Craniofac Surg. 2021 May 1;32(Suppl 3):1263-1268. doi: 10.1097/SCS.0000000000007535. PMID: 33904513

Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR, Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. J Med Genet. 2021 Jan 12:jmedgenet-2020-107459. doi: 10.1136/jmedgenet-2020-107459. Online ahead of print. PMID: 33436522 

Calpena E, McGowan SJ, Blanco Kelly F, Boudry-Labis E, Dieux-Coeslier A, Harrison R, Johnson D, Lachlan K, Morton JEV, Stewart H, Vasudevan P;  Dissection of contiguous gene effects for deletions around ERF on chromosome 19. Genomics England Research Consortium, Twigg SRF, Wilkie AOM.Hum Mutat. 2021 Jul;42(7):811-817. doi: 10.1002/humu.24213. Epub 2021 May 16. PMID: 33993607

Cross C, Khonsari RH, Galiay L, Patermoster G, Johnson D, Ventikos Y, Moazen M. Using Sensitivity Analysis to Develop a Validated Computational Model of Post-operative Calvarial Growth in Sagittal Craniosynostosis. Front Cell Dev Biol. 2021 May 26;9:621249. doi: 10.3389/fcell.2021.621249. eCollection 2021. PMID: 34124030

Hardman CS, Chen YL, Salimi M, Nahler J, Corridoni D, Jagielowicz M, Fonseka CL, Johnson D, Repapi E, Cousins DJ, Barlow JL, McKenzie ANJ, Simmons A, Ogg G. IL-6 effector function of group 2 innate lymphoid cells (ILC2) is NOD2 dependent. Sci Immunol. 2021 May 21;6(59):eabe5084. doi: 10.1126/sciimmunol.abe5084. PMID: 34021026

Kilcoyne S, Rajan SM, Dalton L, Judge A, Overton S, Wall S, Johnson D. The sensitivity and specificity of parental report of concern for identifying language disorder in children with craniosynostosis. J Craniofac Surg. 2021 Jan-Feb 01;32(1):36-41. doi: 10.1097/SCS.0000000000006840. PMID: 33038168

de Planque CA, Wall SA, Dalton L, Paternoster G, Arnaud É, van Veelen MC, Versnel SL, Johnson D, Jayamohan J, Mathijssen IMJ. Clinical signs, interventions, and treatment course of three different treatment protocols in patients with Crouzon syndrome with acanthosis nigricans. J  Neurosurg Pediatr. 2021 Aug 13;28(4):425-431. Doi 10.3171/2021.2.PEDS20933. PMID: 34388723

Shaw AV, Kennedy-Williams P, Care H, Dalton L, Wall S, Johnson D. Psychosocial Impact of Coronal Access Scars in Craniosynostosis Procedures on Patients and Their Families. J Craniofac Surg. 2021 Sep 24. doi: 10.1097/SCS.0000000000008181. Online ahead of print. PMID: 34560731

Dalton LJ, Kiani S, Judge A, Wall S, Johnson D. Parent and Patient Reported Outcomes for Head Shape in Children Undergoing Surgery for Single Suture Synostosis. J Craniofac Surg. 2021 Sep 14. doi: 10.1097/SCS.0000000000008117. Online ahead of print. PMID: 34519706

Cross C, Khonsari RH, Larysz D, Johnson D, Kolby L, Moazen M. Predicting and comparing three corrective techniques for sagittal craniosynostosis. Scientific reports. 2021 11:21216

Kilcoyne S, Rogers C, Thomas GPL, Wall S, Johnson D. Craniofacial Surgery-Related Hashtag Utilisation on Instagram. J Craniofac Surg. 2021 Sep 1;32(6):2035-2040. doi: 10.1097/SCS.0000000000007593. PMID: 33770046.

Kilcoyne S, Luscombe C, Scully P, Overton S, Brockbank S, Swan MC, Johnson D, Wall S, Wilkie AOM. Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation. J Craniofac Surg. 2022 Jan-Feb 01;33(1):243-250. doi: 10.1097/SCS.0000000000008019. PMID: 34310431.

Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR, Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Unexpected role of SIX1variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. J Med Genet. 2022 Feb;59(2):165-169. doi: 10.1136/jmedgenet-2020-107459. Epub 2021 Jan 12. PMID: 33436522; PMCID: PMC8273188.

BOOKS AND BOOK CHAPTERS:

Gray's Anatomy 39th edition [Elsevier]. Editors: Standring S, Ellis H, Johnson D, Healy J, Williams A. 2004.

Gray's Anatomy 40th edition [Elsevier]. Editors: Standring S, Ellis H, Johnson D, Healy J, Williams A. 2008.

Morriss-Kay GM, Iseki S, Johnson D. Genetic control of the cell proliferation-differentiation balance in the developing skull vault: roles of fibroblast growth factor receptor signalling pathways. In: The Molecular Basis of Skeletogenesis. (Ed. J Godde) Novartis Fnd Symp 232: 2001: 102 -116.

Johnson D, Wilkie AOM Wall SA. A comprehensive screen for TWIST mutations in Saethre-Chotzen syndrome identifies a new microdeletion disorder of chromosome 7. In: Proceedings of the VII International Congress of the International Society of Craniofacial Surgery: 2001, 53-56.

Johnson D, Kan S-h, Wilkie AOM, Giele H. A novel mutation in HOXD13 identifies a new polydactyly/brachydactyly phenotype. In: Proceedings of the VIIIth Congress of the Federation of the European Societies for Surgery of the Hand, 2002, 145-148.

Johnson D, Nugent M, Tan E, David DJ. A retrospective review of 203 patients with hemifacial microsomia – implications for management. In: Proceedings of the IX International Congress of the International Society of Craniofacial Surgery: 2006.

• BAAPS (British Association of Aesthetic Plastic Surgeons)
• BAPRAS (British Association of Plastic Reconstructive & Aesthetic Surgeons)
• ISAPS (International Society of Aesthetic Plastic Surgeons)
• ISCFS (International Society of Craniofacial Surgery)
• ESCFS (European Society of Craniofacial Surgery)
• RCSE (Royal College of Surgeons of England)
• GMC (General Medical Council)