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Andrew Wilkie

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Sally Jay; David Johnson; Tracy Lester; Marc Swan; Indira B Taylor; Akira Wiberg; Louise J Williams; Andrew O M Wilkie
The Fibroblast Growth Factor Receptor 2 p.Ala172Phe Mutation in Pfeiffer Syndrome-History Repeating Itself.
Stephen R F Twigg; Marijke E P van den Elzen; Steven A Wall; Roseli M Zechi-Ceide; Christian Babbs; Han G Brunner; Eleni Giannoulatou; Anne Goriely; Jeannette A M Hoogeboom; Samantha J L Knight; Lorne Lonie; Irene M J Mathijssen; Simon J McGowan; Barbara R Pober; Jiannis Ragoussis; M Rita Passos-Bueno; Elham Sadighi Akha; Stephen Taylor; Helga V Toriello; Andrew O M Wilkie
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
Stephen R F Twigg; Alain Verloes; Elena Vorgia; Steven A Wall; Louise C Wilson; Andreas Zaragkoulias; Maryline Allegra; Aimée L Fenwick; Peter Hammond; Chris Healy; Jim Hughes; Louise Izatt; David Johnson; Samantha J L Knight; Anne K Lampe; Tracy Lester; Helen Lord; George Mavrothalassitis; Simon J McGowan; Shehla N Mohammed; Ioanna Peraki; Elham Sadighi Akha; Vikram P Sharma; Paul T Sharpe; Fiona J Stewart; Stephen Taylor; Andrew O M Wilkie
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

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All Publications

2013: Sally Jay; David Johnson; Tracy Lester; Marc Swan; Indira B Taylor; Akira Wiberg; Louise J Williams; Andrew O M Wilkie
The Fibroblast Growth Factor Receptor 2 p.Ala172Phe Mutation in Pfeiffer Syndrome-History Repeating Itself.
American journal of medical genetics. Part A 2013;161(5):1158-63.
2013: Stephen R F Twigg; Marijke E P van den Elzen; Steven A Wall; Roseli M Zechi-Ceide; Christian Babbs; Han G Brunner; Eleni Giannoulatou; Anne Goriely; Jeannette A M Hoogeboom; Samantha J L Knight; Lorne Lonie; Irene M J Mathijssen; Simon J McGowan; Barbara R Pober; Jiannis Ragoussis; M Rita Passos-Bueno; Elham Sadighi Akha; Stephen Taylor; Helga V Toriello; Andrew O M Wilkie
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
Human molecular genetics 2013;22(8):1654-62.
2013: Stephen R F Twigg; Alain Verloes; Elena Vorgia; Steven A Wall; Louise C Wilson; Andreas Zaragkoulias; Maryline Allegra; Aimée L Fenwick; Peter Hammond; Chris Healy; Jim Hughes; Louise Izatt; David Johnson; Samantha J L Knight; Anne K Lampe; Tracy Lester; Helen Lord; George Mavrothalassitis; Simon J McGowan; Shehla N Mohammed; Ioanna Peraki; Elham Sadighi Akha; Vikram P Sharma; Paul T Sharpe; Fiona J Stewart; Stephen Taylor; Andrew O M Wilkie
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
Nature genetics 2013;45(3):308-13.
2013: Vikram P Sharma; Elizabeth Sweeney; Susan E Tomkins; Stephen R F Twigg; Peter J van der Spek; Steven A Wall; Louise C Wilson; Sophia Bennett; Angela F Brady; Mia S Brockop; John Broxholme; Richard J Cornall; Aimée L Fenwick; Jacqueline A C Goos; A J M Hoogeboom; Nu Owase Jeelani; David Johnson; Alexander Kanapin; Sally Ann Lynch; Irene M J Mathijssen; Robert E Maxson; Simon J McGowan; John B Mulliken; Dylan J Murray; Julie M Phipps; Andrew O M Wilkie
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Nature genetics 2013;45(3):304-7.
2013: Julia Vodopiutz; Andrew O M Wilkie; Heinz Zoller; Richard Arnhold; Christoph Aufricht; Aimée L Fenwick; Thomas Müller; Arnold Pollak; Daniela Prayer; Andreas Repa; Max Schmid; Andreas R Janecke
Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.
The Journal of pediatrics 2013;162(3):612-7.
2013: Konstantinos Varvagiannis; Andrew O M Wilkie; Louise Williams; Catherine Sarri; Amalia Stefanidou; Euterpe Bazopoulou-Kyrkanidou; Yolanda Gyftodimou; Tracy Lester; Helen Lord; Charlotte Noakes; Effie Pandelia; Michael B Petersen
Pure de novo partial trisomy 6p in a girl with craniosynostosis.
American journal of medical genetics. Part A 2013;161A(2):343-51.
2012: Stephen R F Twigg; Nouriya Al-Sannaa; Ali Annagür; Philip L Beales; Christopher D O Cooper; Nursel E Elçioglu; Opher Gileadi; Gabriele Gillessen-Kaesbach; Judith A Goodship; Irina Hüning; Dagan Jenkins; Bernard D Keavney; Samantha J L Knight; Deborah Lloyd; Simon J McGowan; Andrew O M Wilkie
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.
American journal of human genetics 2012;91(5):897-905.
2012: Karen A Eley; Jayaratnam Jayamohan; David Johnson; Peter Richards; Andrew O M Wilkie; Steven A Wall
Raised intracranial pressure is frequent in untreated nonsyndromic unicoronal synostosis and does not correlate with severity of phenotypic features.
Plastic and reconstructive surgery 2012;130(5):690e-697e.
2012: Vikram P Sharma; Steven A Wall; Tracy Lester; Helen Lord; Andrew O M Wilkie
Atypical Crouzon Syndrome With a Novel Cys62Arg Mutation in FGFR2 Presenting With Sagittal Synostosis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2012;49(3):373-7.
2012: Anne Goriely; Andrew O M Wilkie
Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease.
American journal of human genetics 2012;90(2):175-200.
2012: Angus J Clarke; David N Cooper; Nick Craddock; John Gallacher; Ros John; Michael Krawczak; Frances Lucy Raymond; Chris Tyler-Smith; Helen M Wallace; Andrew O M Wilkie; Ruth Chadwick; Mathias Chiano
'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care.
Human genomics 2012;6():11.
2012: Jasmine Lim; Geoffrey J Maher; Stephen Taylor; Gareth D H Turner; Wioleta Dudka-Ruszkowska; Anne Goriely; Ewa Rajpert-De Meyts; Andrew O M Wilkie
Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men.
PloS one 2012;7(8):e42382.
2011: Christian Babbs; Lyndsey Connell; Anne Goriely; Tracy Lester; Kim Smith; Helen S Stewart; Stephen R F Twigg; Louise J Williams; Andrew O M Wilkie
Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.
Human mutation 2011;32(8):930-8.
2011: Pekka Nieminen; Satu Parmanen; Peter J van der Spek; Lotta Veistinen; Steven A Wall; Andrew O M Wilkie; Sirpa Arte; Louise A Brueton; Aimée L Fenwick; Andrew Giraud; Louise Judd; Sven Kreiborg; Eamonn R Maher; Irene M J Mathijssen; Marja L Mikkola; Neil V Morgan; Irma Thesleff
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth.
American journal of human genetics 2011;89(1):67-81.
2011: Jane A Hurst; Dagan Jenkins; David Johnson; Maria Kirchhoff; Peter M Kroisel; Claudine Rieubland; Olaf Rittinger; Flemming Skovby; Pradeep C Vasudevan; Leslie G Biesecker; Sabina Gallati; Andrew O M Wilkie
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
European journal of human genetics : EJHG 2011;19(7):757-62.
2011: Dagan Jenkins; Gareth Baynam; Luc De Catte; Nursel Elcioglu; Michael Gabbett; Louanne Hudgins; Jane A Hurst; Fernanda Sarquis Jehee; Christine Oley; Andrew O M Wilkie
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.
Human mutation 2011;32(4):E2069-78.
2011: David Johnson; Andrew O M Wilkie
Craniosynostosis.
European journal of human genetics : EJHG 2011;19(4):369-76.
2011: Andrew O M Wilkie
New germline syndrome with brainstem abnormalities and neuroblastoma, caused by ALK mutation.
Human mutation 2011;32(3):v.
2010: Elena G Bochukova; Shamit Soneji; Steven A Wall; Andrew O M Wilkie
Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.
Journal of medical genetics 2010;47(12):803-8.
2010: Andrew O M Wilkie; Jo C Byren; Jane A Hurst; Jayaratnam Jayamohan; David Johnson; Samantha J L Knight; Tracy Lester; Peter G Richards; Stephen R F Twigg; Steven A Wall
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
Pediatrics 2010;126(2):e391-400.
2010: Anne Goriely; Helen Lord; Jasmine Lim; David Johnson; Tracy Lester; Helen V Firth; Andrew O M Wilkie
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.
American journal of medical genetics. Part A 2010;152A(8):2067-73.
2010: Anne Goriely; Andrew O M Wilkie
Missing heritability: paternal age effect mutations and selfish spermatogonia.
Nature reviews. Genetics 2010;11(8):589.
2010: Stephen R F Twigg; Andrew O M Wilkie; Sarah L Versnel; Irene M J Mathijssen
[In Process Citation].
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2010;47(4):430.
2010: Usha Kini; Jane A Hurst; Jo C Byren; Steven A Wall; David Johnson; Andrew O M Wilkie
Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit.
American journal of medical genetics. Part A 2010;152A(6):1383-9.
2010: Andrew O M Wilkie
Toward a cellular model of microvillus inclusion disease.
Human mutation 2010;31(5):v.
2009: Anne Goriely; Ruth M S Hansen; Indira B Taylor; Inge A Olesen; Grete Krag Jacobsen; Simon J McGowan; Susanne P Pfeifer; Gil McVean; Ewa Rajpert-De Meyts; Andrew O M Wilkie
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.
Nature genetics 2009;41(11):1247-52.
2009: Dominic Furniss; Shih-hsin Kan; Indira B Taylor; David Johnson; P S Critchley; Henk Giele; Andrew O M Wilkie
Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.
Journal of medical genetics 2009;46(11):730-5.
2009: Ingo Kurth; Eva Klopocki; Sigmar Stricker; Jolieke van Oosterwijk; Sebastian Vanek; Jens Altmann; Heliosa G Santos; Jeske J T van Harssel; Thomy de Ravel; Andrew O M Wilkie; Andreas Gal; Stefan Mundlos
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.
Nature genetics 2009;41(8):862-3.
2009: Roger H Woods; Ehtesham Ul-Haq; Andrew O M Wilkie; Jayaratnam Jayamohan; Peter G Richards; David Johnson; Tracy Lester; Steven A Wall
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
Plastic and reconstructive surgery 2009;123(6):1801-10.
2009: Stephen R F Twigg; Sarah L Versnel; Gudrun Nürnberg; Melissa M Lees; Meenakshi Bhat; Peter Hammond; Raoul Hennekam; A J M Hoogeboom; Jane A Hurst; David Johnson; Alexis A Robinson; Peter J Scambler; Dianne Gerrelli; Peter Nürnberg; Irene M J Mathijssen; Andrew O M Wilkie
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
American journal of human genetics 2009;84(5):698-705.
2009: Stephen R F Twigg; Christopher Healy; Christian Babbs; Jacqueline A Sharpe; William G Wood; Paul T Sharpe; Gillian M Morriss-Kay; Andrew O M Wilkie
Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.
Developmental dynamics : an official publication of the American Association of Anatomists 2009;238(2):331-42.
2009: Elena G Bochukova; Tony Roscioli; Dale Hedges; Indira B Taylor; David Johnson; David J David; Prescott L Deininger; Andrew O M Wilkie
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.
Human mutation 2009;30(2):204-11.
2008: Dominic Furniss; Laura A Lettice; Indira B Taylor; Paul S Critchley; Henk Giele; Robert E Hill; Andrew O M Wilkie
A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb.
Human molecular genetics 2008;17(16):2417-23.
2008: Damian Marucci; Christine P Johnston; Philip Anslow; Jayaratnam Jayamohan; Peter G Richards; Andrew O M Wilkie; Steven A Wall
Implications of a vertex bulge following modified strip craniectomy for sagittal synostosis.
Plastic and reconstructive surgery 2008;122(1):217-24.
2008: Christian Babbs; Dominic Furniss; Gillian M Morriss-Kay; Andrew O M Wilkie
Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog.
Mechanisms of development 2008;125(5-6):517-26.
2007: Dominic Furniss; Paul Critchley; Henk Giele; Andrew O M Wilkie
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.
American journal of medical genetics. Part A 2007;143A(24):3150-60.
2007: Andrew O M Wilkie
Cancer drugs to treat birth defects.
Nature genetics 2007;39(9):1057-9.
2007: Christian Babbs; Raoul Heller; David B Everman; Mark Crocker; Stephen R F Twigg; Charles E Schwartz; Henk Giele; Andrew O M Wilkie
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.
Human genetics 2007;122(2):191-9.
2007: Andrew O M Wilkie; Elena G Bochukova; Ruth M S Hansen; Indira B Taylor; Sahan V Rannan-Eliya; Jo C Byren; Steven A Wall; Lina Ramos; Margarida Venâncio; Jane A Hurst; Anthony W O'Rourke; Louise J Williams; Anneke Seller; Tracy Lester
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
American journal of medical genetics. Part A 2007;143A(16):1941-9.
2007: Katrina R Prescott; Andrew O M Wilkie
Genetic aspects of birth defects: new understandings of old problems.
Archives of disease in childhood. Fetal and neonatal edition 2007;92(4):F308-14.
2007: Dagan Jenkins; Dominik Seelow; Fernanda Sarquis Jehee; Chad A Perlyn; Luis Alonso; Daniela F Bueno; Dian Donnai; Dragana Josifova; Dragana Josifiova; Irene M J Mathijssen; Jenny E V Morton; Karen Helene Orstavik; Elizabeth Sweeney; Steven A Wall; Jeffrey L Marsh; Peter Nurnberg; Maria Rita Passos-Bueno; Andrew O M Wilkie
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.
American journal of human genetics 2007;80(6):1162-70.
2007: B Collin; Indira B Taylor; Andrew O M Wilkie; Celia Moss
Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism.
The British journal of dermatology 2007;156(6):1353-6.
2006: Andrew O M Wilkie; Elena G Bochukova; Ruth M S Hansen; Indira B Taylor; Sahan V Rannan-Eliya; Jo C Byren; Steven A Wall; Lina Ramos; Margarida Venâncio; Jane A Hurst; Anthony W O'Rourke; Louise J Williams; Anneke Seller; Tracy Lester
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
American journal of medical genetics. Part A 2006;140(23):2631-9.
2006: Stephen P Robertson; Zandra A Jenkins; Timothy Morgan; Lesley C Adès; Salim Aftimos; Odile Boute; Torunn Fiskerstrand; Sixto Garcia-Miñaur; Arthur Grix; Andrew Green; Vazken M Der Kaloustian; Ray Lewkonia; Brenda McInnes; Mieke M van Haelst; Grazia Mancini; Grazia Macini; Tamás Illés; Geert R Mortier; Ruth Newbury-Ecob; Linda Nicholson; Charles I Scott; Karolina Ochman; Izabela Brozek; Deborah J Shears; andrea superti-furga; Mohnish Suri; Margo Whiteford; Andrew O M Wilkie; Deborah Krakow
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
American journal of medical genetics. Part A 2006;140(16):1726-36.
2006: Pradeep C Vasudevan; Stephen R F Twigg; John B Mulliken; Jackie A Cook; Oliver W J Quarrell; Andrew O M Wilkie
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
European journal of human genetics : EJHG 2006;14(7):884-7.
2006: Stephen R F Twigg; Kazuya Matsumoto; Alexa M J Kidd; Anne Goriely; Indira B Taylor; Richard B Fisher; A J M Hoogeboom; Irene M J Mathijssen; M Teresa Lourenco; Jenny E V Morton; Elizabeth Sweeney; Louise C Wilson; Han G Brunner; John B Mulliken; Steven A Wall; Andrew O M Wilkie
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
American journal of human genetics 2006;78(6):999-1010.
2006: Stephen P Robertson; Sarah Thompson; Timothy Morgan; Muriel Holder-Espinasse; Véronique Martinot-Duquenoy; Andrew O M Wilkie; Sylvie MANOUVRIER
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.
European journal of human genetics : EJHG 2006;14(5):549-54.
2006: Amy Merrill; Elena G Bochukova; Sean Brugger; Mamoru Ishii; Daniela T Pilz; Steven A Wall; Karen M Lyons; Andrew O M Wilkie; Robert E Maxson
Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.
Human molecular genetics 2006;15(8):1319-28.
2006: Fernanda Sarquis Jehee; Luis Alonso; Denise P Cavalcanti; Chong Kim; Steven A Wall; John B Mulliken; Miao Sun; Ethylin Jabs; Simeon Boyd; Andrew O M Wilkie; Maria Rita Passos-Bueno
Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2006;43(2):148-51.
2006: Lampros A Mavrogiannis; Indira B Taylor; Sally J Davies; Feliciano J Ramos; José L Olivares; Andrew O M Wilkie
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
European journal of human genetics : EJHG 2006;14(2):151-8.
2005: Gillian M Morriss-Kay; Andrew O M Wilkie
Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies.
Journal of anatomy 2005;207(5):637-53.
2005: Ruth M S Hansen; Anne Goriely; Steven A Wall; Ian S D Roberts; Andrew O M Wilkie
Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link.
The Journal of pathology 2005;207(1):27-31.
2005: Noriko Funato; Stephen R F Twigg; Norihisa Higashihori; Kimie Ohyama; Steven A Wall; Andrew O M Wilkie; Masataka Nakamura
Functional analysis of natural mutations in two TWIST protein motifs.
Human mutation 2005;25(6):550-6.
2005: Fernanda Sarquis Jehee; D Johnson; Luis Alonso; Denise P Cavalcanti; E de Sá Moreira; F L Alberto; Fernando Kok; Chong Kim; Steven A Wall; Ethylin Jabs; Simeon Boyd; Andrew O M Wilkie; Maria Rita Passos-Bueno
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly.
Clinical genetics 2005;67(6):503-10.
2005: Gregory P L Thomas; Andrew O M Wilkie; Peter G Richards; Steven A Wall
FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.
The Journal of craniofacial surgery 2005;16(3):347-52; discussion 353-4.
2005: Anne Goriely; Gil McVean; Ans M M van Pelt; Anthony W O'Rourke; Steven A Wall; Dirk G de Rooij; Andrew O M Wilkie
Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(17):6051-6.
2005: Andrew O M Wilkie
Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.
Cytokine & growth factor reviews 2005;16(2):187-203.
2005: T J L de Ravel; Indira B Taylor; Alex J T Van Oostveldt; Jean-Pierre Fryns; Andrew O M Wilkie
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
European journal of human genetics : EJHG 2005;13(4):503-5.
2004: Shehla N Mohammed; Marc C Swan; Steven A Wall; Andrew O M Wilkie
Monozygotic twins discordant for frontonasal malformation.
American journal of medical genetics. Part A 2004;130A(4):384-8.
2004: R Kan; Stephen R F Twigg; J Berg; L Wang; F Jin; Andrew O M Wilkie
Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).
Journal of medical genetics 2004;41(8):e108.
2004: Sahan V Rannan-Eliya; Indira B Taylor; I Marieke De Heer; Ans M W van den Ouweland; Steven A Wall; Andrew O M Wilkie
Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
Human genetics 2004;115(3):200-7.
2004: Stephen R F Twigg; Rui Kan; Christian Babbs; Elena G Bochukova; Stephen P Robertson; Steven A Wall; Gillian M Morriss-Kay; Andrew O M Wilkie
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(23):8652-7.
2004: Ileana Antonopoulou; Lampros A Mavrogiannis; Andrew O M Wilkie; Gillian M Morriss-Kay
Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation.
Journal of anatomy 2004;204(6):487-99.
2004: David Ng; Nalin Thakker; Connie M Corcoran; Dian Donnai; Rahat Perveen; Adele Schneider; Donald W Hadley; Cynthia J Tifft; Liqun Zhang; Andrew O M Wilkie; Jasper J van der Smagt; Robert J Gorlin; Shawn M Burgess; Vivian J Bardwell; Graeme C M Black; Leslie G Biesecker
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
Nature genetics 2004;36(4):411-6.
2004: Mohammad K Hajihosseini; Maria D Lalioti; Sandrine Arthaud; Helen R Burgar; Jill M Brown; Stephen R F Twigg; Andrew O M Wilkie; John Heath
Skeletal development is regulated by fibroblast growth factor receptor 1 signalling dynamics.
Development (Cambridge, England) 2004;131(2):325-35.
2004: Nursel H Elçioglu; Karl H Gustavson; Andrew O M Wilkie; Memune Yüksel-Apak; Jürgen W Spranger
Recessive omodysplasia: five new cases and review of the literature.
Pediatric radiology 2004;34(1):75-82.
2003: Sixto Garcia-Miñaur; Lampros A Mavrogiannis; Sahan V Rannan-Eliya; Michael A Hendry; William A Liston; M E M Porteous; Andrew O M Wilkie
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.
European journal of human genetics : EJHG 2003;11(11):892-5.
2003: Shih-hsin Kan; David Johnson; Henk Giele; Andrew O M Wilkie
An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.
American journal of medical genetics. Part A 2003;121A(1):69-74.
2003: Anne Goriely; Gil McVean; Maria Röjmyr; Björn Ingemarsson; Andrew O M Wilkie
Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line.
Science (New York, N.Y.) 2003;301(5633):643-6.
2003: Simon Brackenridge; Andrew O M Wilkie; Gavin Screaton
Efficient use of a 'dead-end' GA 5' splice site in the human fibroblast growth factor receptor genes.
The EMBO journal 2003;22(7):1620-31.
2003: David Johnson; Shih-hsin Kan; Michael Oldridge; Richard C Trembath; Philippe Roche; Robert M Esnouf; Henk Giele; Andrew O M Wilkie
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
American journal of human genetics 2003;72(4):984-97.
2003: Stephen P Robertson; Stephen R F Twigg; Andrew J Sutherland-Smith; Valérie Biancalana; Robert J Gorlin; Denise Horn; Susan J Kenwrick; Chong A Kim; Eva Morava; Ruth Newbury-Ecob; Karen Helene Orstavik; Oliver W J Quarrell; Charles E Schwartz; Deborah J Shears; Mohnish Suri; John Kendrick-Jones; Andrew O M Wilkie
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Nature genetics 2003;33(4):487-91.
2003: Andrew O M Wilkie
Why study human limb malformations?
Journal of anatomy 2003;202(1):27-35.
2002: Andrew O M Wilkie; Susannah J Patey; Shih-hsin Kan; Ans M W van den Ouweland; Ben C J Hamel
FGFs, their receptors, and human limb malformations: clinical and molecular correlations.
American journal of medical genetics 2002;112(3):266-78.
2002: Andrew O M Wilkie
Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2.
American journal of medical genetics 2002;111(1):105.
2002: Shih-hsin Kan; Navaratnam Elanko; David Johnson; Laura Cornejo-Roldan; Jackie Cook; Elsa W Reich; Susan Tomkins; Alain Verloes; Stephen R F Twigg; Sahan V Rannan-Eliya; Donna M McDonald-McGinn; Elaine H Zackai; Steven A Wall; Maximilian Muenke; Andrew O M Wilkie
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
American journal of human genetics 2002;70(2):472-86.
2001: Navaratnam Elanko; J S Sibbring; K A Metcalfe; J Clayton-Smith; Dian Donnai; I K Temple; Steven A Wall; Andrew O M Wilkie
A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.
Human mutation 2001;18(6):535-41.
2001: Paul T Christie; A Curley; M Andrew Nesbit; C Chapman; S Genet; P S Harper; S L Keeling; Andrew O M Wilkie; Robin M Winter; Rajesh V Thakker
Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.
The Journal of clinical endocrinology and metabolism 2001;86(7):3233-6.
2001: Stephen P Robertson; S Walsh; Michael Oldridge; T Gunn; D Becroft; Andrew O M Wilkie
Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.
American journal of human genetics 2001;69(1):223-7.
2001: Wim Wuyts; Wim Van Hul; Oliver Bartsch; Andrew O M Wilkie; Peter Meinecke
Burning down DEFECT11.
American journal of medical genetics 2001;100(4):331-5.
2001: Andrew O M Wilkie; Michael Oldridge; Z Tang; Robert E Maxson
Craniosynostosis and related limb anomalies.
Novartis Foundation symposium 2001;232():122-33; discussion 133-43.
2001: Lampros A Mavrogiannis; Ileana Antonopoulou; A Baxová; S Kutílek; Chong A Kim; Sofia Mizuho Miura Sugayama; A Salamanca; Steven A Wall; Gillian M Morriss-Kay; Andrew O M Wilkie
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.
Nature genetics 2001;27(1):17-8.
2000: E M Blair; S Walsh; Michael Oldridge; Steven A Wall; Andrew O M Wilkie
Newly recognised craniosynostosis syndrome that does not map to known disease loci.
American journal of medical genetics 2000;95(1):4-9.
2000: AM Roy; Marion L Carroll; Son V Nguyen; Abdel Halim Salem; Michael Oldridge; Andrew O M Wilkie; Mark A Batzer; Prescott L Deininger
Potential gene conversion and source genes for recently integrated Alu elements.
Genome research 2000;10(10):1485-95.
2000: Georg C Schwabe; Sigrid Tinschert; C Buschow; Peter Meinecke; G Wolff; Gabriele Gillessen-Kaesbach; Michael Oldridge; Andrew O M Wilkie; R Kömec; Stefan Mundlos
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.
American journal of human genetics 2000;67(4):822-31.
2000: David Johnson; Steven A Wall; S Mann; Andrew O M Wilkie
A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?
European journal of human genetics : EJHG 2000;8(8):571-7.
2000: Ali R Afzal; A Rajab; CD Fenske; Michael Oldridge; Navaratnam Elanko; E Ternes-Pereira; B Tüysüz; Victoria Murday; Michael A Patton; Andrew O M Wilkie; Steve Jeffery
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.
Nature genetics 2000;25(4):419-22.
2000: Andrew O M Wilkie; Z Tang; Navaratnam Elanko; S Walsh; Stephen R F Twigg; Jane A Hurst; Steven A Wall; K H Chrzanowska; Robert E Maxson
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.
Nature genetics 2000;24(4):387-90.
2000: Rivka L Glaser; W Jiang; Simeon Boyd; A K Tran; Andrea A Zachary; Lionel Van Maldergem; D Johnson; S Walsh; Michael Oldridge; Steven A Wall; Andrew O M Wilkie; Ethylin Jabs
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
American journal of human genetics 2000;66(3):768-77.
2000: David Johnson; Sachiko Iseki; Andrew O M Wilkie; Gillian M Morriss-Kay
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.
Mechanisms of development 2000;91(1-2):341-5.
2000: Michael Oldridge; A M Fortuna; M Maringa; P Propping; S Mansour; C Pollitt; Thomas M DeChiara; R B Kimble; David M Valenzuela; George D Yancopoulos; Andrew O M Wilkie
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.
Nature genetics 2000;24(3):275-8.
1999: Sachiko Iseki; Andrew O M Wilkie; Gillian M Morriss-Kay
Fgfr1 and Fgfr2 have distinct differentiation- and proliferation-related roles in the developing mouse skull vault.
Development (Cambridge, England) 1999;126(24):5611-20.
1999: Stephen R F Twigg; Andrew O M Wilkie
Characterisation of the human snail (SNAI1) gene and exclusion as a major disease gene in craniosynostosis.
Human genetics 1999;105(4):320-6.
1999: Michael Oldridge; I K Temple; H G Santos; Richard J Gibbons; Zehra Mustafa; K E Chapman; John Loughlin; Andrew O M Wilkie
Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity.
American journal of human genetics 1999;64(2):578-85.
1999: Michael Oldridge; Elaine H Zackai; Donna M McDonald-McGinn; Sachiko Iseki; Gillian M Morriss-Kay; Stephen R F Twigg; David Johnson; Steven A Wall; W Jiang; CHRISTIANE THEDA; Ethylin Jabs; Andrew O M Wilkie
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.
American journal of human genetics 1999;64(2):446-61.
1998: David Johnson; Sharon W Horsley; DM Moloney; Michael Oldridge; Stephen R F Twigg; S Walsh; M Barrow; P R Njølstad; Juergen Kunz; G J Ashworth; Steven A Wall; Lyndal Kearney; Andrew O M Wilkie
A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.
American journal of human genetics 1998;63(5):1282-93.
1998: J Anderson; H D Burns; P Enriquez-Harris; Andrew O M Wilkie; John Heath
Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.
Human molecular genetics 1998;7(9):1475-83.
1998: Stephen R F Twigg; H D Burns; Michael Oldridge; John Heath; Andrew O M Wilkie
Conserved use of a non-canonical 5' splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3.
Human molecular genetics 1998;7(4):685-91.
1998: A M Slavotinek; Jane A Hurst; David D Dunger; Andrew O M Wilkie
ACTH receptor mutation in a girl with familial glucocorticoid deficiency.
Clinical genetics 1998;53(1):57-62.
1997: David Ravine; N K Ragge; D Stephens; Michael Oldridge; Andrew O M Wilkie
Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate.
American journal of medical genetics 1997;72(2):227-36.
1997: G J Feldman; D E Ward; E Lajeunie-Renier; D Saavedra; N H Robin; V Proud; L J Robb; Vazken M Der Kaloustian; J C Carey; M M Cohen; V Cormier; A Munnich; E H Zackai; Andrew O M Wilkie; Arlen Price; Maximilian Muenke
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.
Human molecular genetics 1997;6(11):1937-41.
1997: Sachiko Iseki; Andrew O M Wilkie; J K Heath; T Ishimaru; K Eto; Gillian M Morriss-Kay
Fgfr2 and osteopontin domains in the developing skull vault are mutually exclusive and can be altered by locally applied FGF2.
Development (Cambridge, England) 1997;124(17):3375-84.
1997: J E Craig; Jacques Rochette; M Sampietro; Andrew O M Wilkie; R Barnetson; Christian S R Hatton; F Demenais; Swee Lay Thein
Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin.
Blood 1997;90(1):428-34.
1997: J Nixon; Michael Oldridge; Andrew O M Wilkie; K Smith
Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation.
American journal of medical genetics 1997;70(3):324-7.
1997: DM Moloney; Steven A Wall; G J Ashworth; Michael Oldridge; I A Glass; Clair A Francomano; Maximilian Muenke; Andrew O M Wilkie
Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.
Lancet 1997;349(9058):1059-62.
1997: Maximilian Muenke; Karen W Gripp; Donna M McDonald-McGinn; K Gaudenz; Linton A Whitaker; Scott P Bartlett; Richard Markowitz; N H Robin; NA Nwokoro; J J Mulvihill; H W Losken; J B Mulliken; A E Guttmacher; R S Wilroy; L A Clarke; Georgina Hollway; Lesley C Adès; Eric A Haan; John C Mulley; M M Cohen; GA Bellus; Clair A Francomano; DM Moloney; Steven A Wall; Andrew O M Wilkie
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
American journal of human genetics 1997;60(3):555-64.
1997: Andrew O M Wilkie
Craniosynostosis: genes and mechanisms.
Human molecular genetics 1997;6(10):1647-56.
1997: Michael Oldridge; P W Lunt; Elaine H Zackai; Donna M McDonald-McGinn; Maximilian Muenke; DM Moloney; Stephen R F Twigg; John Heath; Timothy Howard; George Hoganson; D M Gagnon; Ethylin Jabs; Andrew O M Wilkie
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
Human molecular genetics 1997;6(1):137-43.
1996: Andrew O M Wilkie
Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes.
Indian journal of pediatrics 1996;63(3):351-6.
1996: DM Moloney; SF Slaney; Michael Oldridge; Steven A Wall; P Sahlin; G Stenman; Andrew O M Wilkie
Exclusive paternal origin of new mutations in Apert syndrome.
Nature genetics 1996;13(1):48-53.
1996: SF Slaney; Michael Oldridge; J A Hurst; G M Moriss-Kay; Christine M Hall; Michael Poole; Andrew O M Wilkie
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
American journal of human genetics 1996;58(5):923-32.
1996: Andrew O M Wilkie; Steven A Wall
Craniosynostosis: novel insights into pathogenesis and treatment.
Current opinion in neurology 1996;9(2):146-52.
1996: Meena Upadhyaya; S H Roberts; Julie Maynard; E Sorour; P W Thompson; M Vaughan; Andrew O M Wilkie; H E Hughes
A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.
Journal of medical genetics 1996;33(2):148-52.
1995: Michael Oldridge; Andrew O M Wilkie; SF Slaney; Michael Poole; L J Pulleyn; P Rutland; Anthony D Hockley; M J Wake; J H Goldin; Robin M Winter
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
Human molecular genetics 1995;4(6):1077-82.
1995: Andrew O M Wilkie; G M Morriss-Kay; E Y Jones; J K Heath
Functions of fibroblast growth factors and their receptors.
Current biology : CB 1995;5(5):500-7.
1995: Andrew O M Wilkie; S P Yang; D Summers; Michael Poole; William Reardon; Robin M Winter
Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.
Journal of medical genetics 1995;32(3):174-80.
1995: Andrew O M Wilkie; SF Slaney; Michael Oldridge; Michael Poole; G J Ashworth; Anthony D Hockley; Richard D Hayward; D J David; L J Pulleyn; P Rutland
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
Nature genetics 1995;9(2):165-72.
1995: Jonathan Flint; Andrew O M Wilkie; V J Buckle; Robin M Winter; A J Holland; Heather E McDermid
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.
Nature genetics 1995;9(2):132-40.
1995: SF Slaney; Andrew O M Wilkie; Mark Hirst; R Charlton; M McKinley; Jennifer J Pointon; Z Christodoulou; SM Huson; Kay E Davies
DNA testing for fragile X syndrome in schools for learning difficulties.
Archives of disease in childhood 1995;72(1):33-7.
1994: C S Rose; A A King; D Summers; R Palmer; S Yang; Andrew O M Wilkie; William Reardon; Sue Malcolm; Robin M Winter
Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2.
Human molecular genetics 1994;3(8):1405-8.
1994: Andrew O M Wilkie; J S Amberger; Victor A McKusick
A gene map of congenital malformations.
Journal of medical genetics 1994;31(7):507-17.
1994: Andrew O M Wilkie
The molecular basis of genetic dominance.
Journal of medical genetics 1994;31(2):89-98.
1993: Andrew O M Wilkie
Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms.
American journal of human genetics 1993;53(3):688-701.
1993: J Lamb; Peter C Harris; Andrew O M Wilkie; William G Wood; J G Dauwerse; Douglas R Higgs
De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).
American journal of human genetics 1993;52(4):668-76.
1992: Richard J Gibbons; G K Suthers; Andrew O M Wilkie; V J Buckle; Douglas R Higgs
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
American journal of human genetics 1992;51(5):1136-49.
1992: Andrew O M Wilkie; Douglas R Higgs
An unusually large (CA)n repeat in the region of divergence between subtelomeric alleles of human chromosome 16p.
Genomics 1992;13(1):81-8.
1991: Andrew O M Wilkie; Douglas R Higgs; KA Rack; V J Buckle; N K Spurr; N Fischel-Ghodsian; Isabella Ceccherini; W R Brown; Peter C Harris
Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16.
Cell 1991;64(3):595-606.
1990: Andrew O M Wilkie; J Lamb; Peter C Harris; R D Finney; Douglas R Higgs
A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n.
Nature 1990;346(6287):868-71.
1990: C S Hatton; Andrew O M Wilkie; H C Drysdale; William G Wood; M A Vickers; J Sharpe; H Ayyub; I M Pretorius; V J Buckle; Douglas R Higgs
Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster.
Blood 1990;76(1):221-7.
1990: Peter C Harris; N J Barton; Douglas R Higgs; S T Reeders; Andrew O M Wilkie
A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus.
Genomics 1990;7(2):195-206.
1990: Andrew O M Wilkie; H C Zeitlin; R H Lindenbaum; V J Buckle; N Fischel-Ghodsian; D H Chui; D Gardner-Medwin; M H MacGillivray; David J Weatherall; Douglas R Higgs
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.
American journal of human genetics 1990;46(6):1127-40.
1990: Andrew O M Wilkie; V J Buckle; Peter C Harris; J Lamb; N J Barton; S T Reeders; R H Lindenbaum; R D Nicholls; M Barrow; N C Bethlenfalvay
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.
American journal of human genetics 1990;46(6):1112-26.
1990: Douglas R Higgs; William G Wood; A P Jarman; M A Vickers; Andrew O M Wilkie; J Lamb; P Vyas; J P Bennett
The alpha-thalassemias.
Annals of the New York Academy of Sciences 1990;612():15-22.
1989: J Lamb; Andrew O M Wilkie; Peter C Harris; V J Buckle; R H Lindenbaum; N J Barton; S T Reeders; David J Weatherall; Douglas R Higgs
Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease.
Lancet 1989;2(8667):819-24.
1989: Douglas R Higgs; M A Vickers; Andrew O M Wilkie; I M Pretorius; A P Jarman; David J Weatherall
A review of the molecular genetics of the human alpha-globin gene cluster.
Blood 1989;73(5):1081-104.
1988: V J Buckle; Douglas R Higgs; Andrew O M Wilkie; M Super; David J Weatherall
Localisation of human alpha globin to 16p13.3----pter.
Journal of medical genetics 1988;25(12):847-9.