WIMM PI
Curriculum Vitae
Personal Data
Name
Nationality
Email
Andrew Oliver Mungo Wilkie
UK
andrew.wilkie@imm.ox.ac.uk
Present Position
2003-present
Nuffield Professor of Pathology, Nuffield Department of Clinical Laboratory
Sciences, University of Oxford
1993-present
Honorary Consultant in Clinical Genetics at the Department of Medical
Genetics, Churchill Hospital, Oxford, and the Craniofacial Unit, John
Radcliffe Hospital, Oxford
Previous Positions
1995-2003
Wellcome Trust Senior Research Fellow in Clinical Science, WIMM
1993-1995
Wellcome Trust Advanced Research Fellow, WIMM
1992-1993
Senior Registrar in Genetics, University Hospital of Wales, Cardiff
1991-1992
Clinical Research Fellow in Dysmorphology, Institute of Child Health, London,
and Locum Senior Registrar in Paediatric Genetics, Hospital for Sick Children,
Great Ormond Street, London.
1987-1990
MRC Training Fellow at the MRC Molecular Haematology Unit, IMM, Oxford
1986-1987
Senior House Officer in Paediatrics, Bristol
1985-1986
Senior House in Cardiology, Brompton Hospital, London
1985
Senior House Officer in Neurology, St. Bartholomew's Hospital London
1984-1985
Senior House Officer in Gastroenterology, Hammersmith Hospital, London
1984
House Physician, Nuffield Department of Medicine, John Radcliffe Hospital,
Oxford
1983-1984
House Surgeon in Urology and General Surgery, Battle Hospital, Reading
Research Achievements
As a practicing clinical geneticist I aim to exploit the molecular genetic analysis of individual
patients presenting with congenital disorders, both to reveal the cause of their condition and
to uncover genetic principles of wider biological and pathological relevance. Since starting as
a group leader in Oxford in 1993 I have fostered very close clinical contacts with the
craniofacial unit in Oxford, one of five covering the entire UK. As a result of this ongoing 20year collaboration, the Oxford patients probably represent the best characterized cohort of
craniofacial patients internationally from a molecular genetic standpoint. During this period
my group has discovered many genes that, when mutated, cause serious craniofacial
conditions, notably various types of craniosynostosis (premature fusion of the cranial
sutures). Many of these discoveries have led to the development of molecular genetic
diagnostic tests now in clinical use; the Churchill Hospital provides one of two national
diagnostic services for craniofacial disorders and I sign off all lab reports issued by the
service. Work on mouse models carrying equivalent mutations has helped to further
elucidate the developmental mechanisms of several craniosynostosis syndromes.
Starting from the identification of mutations in fibroblast growth factor receptor 2 (FGFR2) in
Apert syndrome (a cause of craniosynostosis), and the deduction that these mutations were
arising with unexpectedly high frequency in the healthy fathers, my group discovered a novel
mechanism whereby pathogenic mutations within the testis can promote the enrichment of
mutant spermatogonia. Recent work has identified similar mutations in testicular tumours,
linking the processes of somatic and germline mutation to events occurring in the same cell.
This work provides fundamental novel insights into mutational processes that may have
implications beyond congenital malformations to include common complex diseases such as
cancer and neuropsychiatric disorders.
What are the Future Aims of Your Current Group?
I plan to continue to pursue the dual themes of the molecular basis of craniofacial
malformation and consequences of selfish spermatogonial mutation. The investigation of
both themes is substantially assisted by recent developments in DNA sequencing, making
this a “golden era” to be undertaking such work.
In the case of craniofacial malformation, exome and whole genome sequencing are allowing
the discovery of disease-causing genes at an unprecedented rate; our group has identified
four novel, validated genes over the past 2 years indicating that our current understanding of
molecular pathogenesis is far from complete. With our excellent clinical links we are strongly
placed to continue to mine our sample resource for novel pathogenic mutations, with the aim
of achieving a more complete picture of the diversity of genetic lesions giving rise to
craniofacial disorders. Alongside this we are investigating the pathophysiological
mechanisms of craniosynostosis, particularly using carefully chosen mouse models. An
emerging theme is that many of the genes mutated in these developmental malformations
are also mutated in cancer, raising the question whether abnormal development could be
targeted using anticancer drugs – although many logistical challenges would have to be
overcome to make this a reality.
In our further work on spermatogonial mutation, we would like to identify the mutational
events directly in testes by using a combination of immunohistochemistry, microdissection
and high throughput sequencing. Ultimately, our long-term aim is to document the frequency
spectrum of every mutation in the human genome, but in the short-term we want to identify
which genes are most strongly governed by this mechanism.
How do These Aims Contribute to the Understanding and/or Management of Human
Disease
The work on the molecular basis of craniofacial malformations has led to the introduction of
many new diagnostic genetic tests and the development of Oxford as a leading international
centre in this work. Such molecular genetic diagnosis provides the cornerstone for giving
families accurate diagnostic information and informed genetic counseling. In addition it is
increasingly recognised that accurate diagnosis informs surgical prognosis and is therefore
important in the long-term clinical management of patients. This work also contributes to
understanding the different pathophysiological mechanisms that underlie craniosynostosis.
Whilst the work on selfish spermatogonial selection is aimed at providing fundamental
insights into disease rather than novel tests, it can nevertheless yield valuable data for
genetic counselling – for example, it has demonstrated that certain de novo mutations are
very unlikely to be associated with germinal mosaicism, thus potentially avoiding invasive
prenatal diagnostic tests that are potentially harmful to the fetus.
Lay Summary of Research
About 1 in 2,000 children is born with a serious malformation of the skull: the most frequent
type is termed “craniosynostosis”, the premature fusion of the cranial sutures. Parents want
to know why this has happened, whether it could happen again, and whether any tests are
available to determine the answers to these questions.
Working closely with surgeons in Oxford who treat these children, our laboratory aims to
identify new genetic causes of these malformations. Over the past 20 years we have
identified over ten new causative genes, which have been introduced into laboratory testing
in the NHS and around the world. Using modern technologies that combine the ability to
sequence an entire human genome in a single experiment with computational methods to
analyse the data, we now aim to compile a comprehensive compendium of the possible gene
mutations, and their relative frequency over the next few years, so that more families can get
answers to their questions.
Additional benefits of this work are that we can learn more both about how the skull
develops, and why the causative genetic changes (mutations) arise. To answer the first
question, we need to use mice that recapitulate several features of the human disorder,
since it would be unethical to investigate the origins of developmental malformation in the
human fetus. Working on the mechanisms of mutation, we have stumbled on an unexpected
process whereby changes to genes arising in the healthy father’s testis that are harmful in
the offspring, are paradoxically beneficial to cells within the testis itself. We term this process
“selfish selection”. Again exploiting new technologies, the other major thrust of our laboratory
is to explore the wider consequences of this new mechanism for causing disease.
All Publications Over the Past 5 Years (*corresponding author)
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.
Jenkins D, Baynam G, De Catte L, Elcioglu N, Gabbett MT, Hudgins L, Hurst JA, Jehee FS,
Oley C & Wilkie AOM* (2011). Carpenter syndrome: extended RAB23 mutation spectrum
and analysis of nonsense-mediated mRNA decay. Hum Mutat 32:E2069-78.
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.
Lim J, Goriely A, Turner GDH, Ewen KA, Jacobsen GK, Graem N, Wilkie AOM & Rajpert-De
Meyts E (2011). OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of
spermatocytic seminoma reflecting distinct subpopulations of spermatogonia. J Pathol
224:473-483.
Babbs C, Stewart HS, Williams LJ, Connell L, Goriely A, Twigg SRF, Smith K, Lester T &
Wilkie AOM* (2011). Duplication of the EFNB1 gene in familial hypertelorism: imbalance
in ephrin-B1 expression and abnormal phenotypes in humans and mice. Hum Mutat
32:930-938.
Fenwick AL, Bowdin SC, Klatt REM & Wilkie AOM (2011). A deletion of FGFR2 creating a
chimeric IIIb/IIIc exon in a child with Apert syndrome. BMC Med Genet 12:122.
Barroso E, Pérez-Carrizosa V, García-Recuero I, Glucksman MJ, Wilkie AO, García-Minaur
S & Heath KE (2011). Mild isolated craniosynostosis due to a novel FGFR3 mutation,
p.Ala334Thr. Am J Med Genet A 155:3050-3053.
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.
Lim J, Maher GJ, Turner GDH, Dudka-Ruszkowska W, Taylor S, Rajpert-De Meyts E,
Goriely A & Wilkie AOM* (2012). Selfish spermatogonial selection: evidence from an
immunohistochemical screen in testes of elderly men. PLoS ONE 7:e42382.
Twigg SRF, Lloyd D, Jenkins D, Elcioglu N, Cooper CDO, Al-Sannaa N, Annagür A,
Gillessen-Kaesback G, Stefanova I, Knight SJL, Goodship JA, Keavney B, Beales PL,
Gileadi O, McGowan SJ & Wilkie AOM* Mutations in the multidomain protein MEGF8
identify a new subtype of Carpenter syndrome associated with defective lateralization.
Am J Hum Genet 91:897-905.
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 130:690e697e.
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.
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.
Varvagiannis K, Stefanidou A, Gyftodimou Y, Lord H, Williams L, Sarri C, Pandelia E,
Bazopoulou-Kyrkanidou E, Noakes C, Lester T, Wilkie AOM & Petersen MB (2013). Pure
de novo partial trisomy 6p in a girl with craniosynostosis. Am J Med Genet A 161A:343351.
Shanks ME, Downes SM, Copley RR, Lise S, Broxholme J, Hudspith KAZ, Kwasniewska A,
Davies WIL, Hankins MW, Packham E, Clouston P, Seller A, Wilkie AOM, Taylor JC,
Ragoussis J & Németh (2013). Next Generation Sequencing (NGS) as a diagnostic tool
for retinal degeneration reveals a much higher detection rate in early onset disease. Eur J
Hum Genet 21:274-280.
Vodopiutz J, Zoller H, Fenwick AL, Arnhold R, Schmid M, Prayer D, Müller T, Repa A, Pollak
A, Aufricht C, Wilkie AOM & Janecke AR (2013). Homozygous SALL1 mutation causes a
novel multiple congenital anomaly - mental retardation syndrome. J Pediatr 162:612-617.
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, PassosBueno 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.
Giannoulatou E, McVean G, Taylor IB, McGowan SJ, Maher GJ, Iqbal Z, Pfeifer SP, Turner
I, Burkitt-Wright EMM, Shorto J, Itani A, Turner K, Gregory L, Buck D, Rajpert-De Meyts
E, Looijenga LHJ, Kerr B, Wilkie AOM* & Goriely A* (2013). Contributions of intrinsic
mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal
germline. Proc Natl Acad Sci USA 110:20152-20157.
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola D, Felix TM, de Souza J, Raskin S, Twigg
SRF, Weiner AMJ, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan S,
Wilkie AOM, Richieri-Costa A, de Almeida MLG & Passos-Bueno MR (2014). A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial
disorder associated with limb defects. Am J Hum Genet 94:120-128.
Williamson KA, Rainger J, Floyd JA, Ansari M, Meynert A, Aldridge KV, Rainger JK,
Anderson CA, Moore AT, Hurles ME, Clarke A, van Heyningen V, Verloes A, Taylor MS,
Wilkie AOM, UK10K Consortium & Fitzpatrick DR (2014). Heterozygous loss-of-function
mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. Am J
Hum Genet 94:295-302.
van den Elzen MEP, Twigg SRF, Goos JAC, Hoogeboom AJM, van den Ouweland AMW,
Wilkie AOM & Mathijssen IMJ (2014). Phenotypes of craniofrontonasal syndrome in
patients with a pathogenic mutation in EFNB1. Eur J Hum Genet 22:995-1001.
Rimmer A, Phan H, Mathieson I, Iqbal Z, Twigg SRF, 500 Whole-Genome Sequences
(WGS500) Consortium, Wilkie AOM, McVean G & Lunter G (2014). Integrating mapping-,
assembly- and haplotype-based approaches for calling variants in clinical sequencing
applications. Nature Genet 46:912-918.
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.
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.
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 97:378-88.
Fennell N, Foulds N, Johnson DS, Wilson LC, Wyatt M, Robertson SP, Johnson D, Wall SA
&Wilkie AOM. Association of mutations in FLNA with craniosynostosis. Eur J Hum Genet,
in press, PMID 25873011.
Piard J, Rozé V, Czorny A, Lenoir M, Valduga M, Fenwick AL, Wilkie AOM & Van
Maldergem L. TCF12 microdeletion in a 72 year-old woman with intellectual disability. Am
J Med Genet A, in press, PMID 25871887.
Reviews
Johnson D & Wilkie AOM* (2011). Craniosynostosis. Eur J Hum Genet 19:369-376.
Goriely A* & Wilkie AOM* (2012). Paternal age effect mutations and selfish spermatogonial
selection: causes and consequences for human disease. Am J Hum Genet 90:175-200.
Clarke AJ, Cooper DN, Krawczak M, Tyler-Smith C, Wallace HM, Wilkie AOM, Raymond FL,
Chadwick R,Craddock N, John R, Gallacher J & Chiano M (2012). ‘Sifting the significance
from the data’ - the impact of high-throughput genomic technologies on human genetics
and health care. Hum Genomics 6:11.
Goriely A, McGrath JJ, Hultman CM, Wilkie AOM & Malaspina D (2013). "Selfish
spermatogonial selection": a novel mechanism for the association between advanced
paternal age and neurodevelopmental disorders. Am J Psych 170:599-608.
Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GCM,
Brown DL, Brudno M, Campbell J, Fitzpatrick DR, Eppig JT, Jackson AP, Freson K,
Girdea M, Helbig I, Hurst JA, Jähn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S,
Martin CL, Moss C, Mumford A, Ouwehand WH, Park SM, Riggs ER, Scott RH, Sisodiya
S, Vooren SV, Wapner RJ, Wilkie AOM, Wright CF, Vulto-van Silfhout AT, Leeuw ND, de
Vries BBA, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos
GV, Haendel M, Smedley D, Lewis SE & Robinson PN (2014). The Human Phenotype
Ontology project: linking molecular biology and disease through phenotype data. Nucleic
Acids Res 42:D966-974.
Maher GJ, Goriely A & Wilkie AOM (2014). Cellular evidence for selfish spermatogonial
selection in aged human testes. Andrology 2:304-314.
Twigg, SRF & Wilkie AOM (2015). A genetic-pathophysiological framework for
craniosynostosis. Am J Hum Genet 97:359-77.
Twigg, SRF & Wilkie AOM (2015). New insights into craniofacial malformations. Hum Mol
Genet, in press, PMID 26085576.
Book chapters
Wilkie AOM (2013). Genetics of craniosynostosis. In: Maloy S & Hughes K (eds). Brenner’s
Encyclopedia of Genetics 2nd edition, Academic Press, San Diego, Vol 2 pp. 208–211.
Ten Key Publications Throughout your Career (* Corresponding author)
Wilkie AOM, Lamb J, Harris PC, Finney RD & Higgs DR (1990). A truncated human
chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric
repeat (TTAGGG)n. Nature 346:868-871.
Wilkie AOM*, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD,
David DJ, Pulleyn LJ, Rutland P, Malcolm S, Winter RM & Reardon W (1995). Apert
syndrome results from localized mutations of FGFR2 and is allelic with Crouzon
syndrome. Nature Genet 9:165-172.
Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G & Wilkie AOM* (1996).
Exclusive paternal origin of new mutations in Apert syndrome. Nature Genet 13: 48-53.
Wilkie AOM*, Tang Z, Elanko N, Walsh S, Twigg SRF, Hurst JA, Wall SA, Chrzanowska KH
& Maxson RE Jr (2000). Functional haploinsufficiency of the human homeobox gene
MSX2 causes defects in skull ossification. Nature Genet 24: 387-390.
Goriely A, McVean GAT, Röjmyr M, Ingemarsson B & Wilkie AOM* (2003). Evidence for
selective advantage of pathogenic FGFR2 mutations in the male germline. Science
301:643-646.
Twigg SRF, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM &
Wilkie AOM* (2004). Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary
formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci USA 101:8652-8657.
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.
Goriely A, Hansen RMS, Taylor IB, Olesen IA, Jacobsen GK, McGowan SJ, Pfeifer SP,
McVean GAT, Rajpert-De Meyts E & Wilkie AOM* (2009). Activating mutations in FGFR3
and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.
Nature Genet 41:1247-1252.
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.
Markers of Esteem
2000
Professor of Genetics in the recognition of distinction exercise, University of
Oxford
2002
Oon International Prize in Preventive Medicine, Downing College, Cambridge and
Cambridge University Medical School
2002
Fellow of the Academy of Medical Sciences
2006
Member of European Molecular Biology Organisation
2013
Fellow of the Royal Society
Current Grant Support
1.11.10-31.10.15
Wellcome Trust Programme Grant: Selfish mutations in the testis:
impact on evolution and disease. £1,135,718 ref 091182/Z/10/Z
1.2.14-31.1.19
Wellcome Trust Senior Investigator Award: Mutations in
malformation and disease. £1,687,339 ref. 102731/Z/13/Z
1.01.15-31.12.16
National Institutes of Health: Nonsyndromic Craniosynostosis:
Phenotype/Genotype Study (Co-investigator; PIs Simeon Boyd
and Paul Romitti) $211,608 ref. 2R01DE016886-06A1
1.04.15-31.03.16
NIHR Oxford Biomedical Research Centre Genomic Medicine
Theme: Genetics of craniosynostosis. £97,708 (PI; £25k
consumables plus salaries for predoc RA and postdoc RA)