Andrew Wilkie
Andrew Wilkie
Verified email at imm.ox.ac.uk
Title
Cited by
Cited by
Year
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
AOM Wilkie, SF Slaney, M Oldridge, MD Poole, GJ Ashworth, AD Hockley, ...
Nature genetics 9 (2), 165-172, 1995
9481995
A review of the molecular genetics of the human alpha-globin gene cluster
DR Higgs, MA Vickers, AO Wilkie, IM Pretorius, AP Jarman, DJ Weatherall
7371989
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ...
Nucleic acids research 42 (D1), D966-D974, 2014
7182014
Integrating mapping-, assembly-and haplotype-based approaches for calling variants in clinical sequencing applications
A Rimmer, H Phan, I Mathieson, Z Iqbal, SRF Twigg, AOM Wilkie, ...
Nature genetics 46 (8), 912-918, 2014
6342014
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
J Flint, AOM Wilkie, VJ Buckle, RM Winter, AJ Holland, HE McDermid
Nature genetics 9 (2), 132-140, 1995
5841995
Craniosynostosis: genes and mechanisms
AOM Wilkie
Human molecular genetics 6 (10), 1647-1656, 1997
5721997
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
P Rutland, LJ Pulleyn, W Reardon, M Baraitser, R Hayward, B Jones, ...
Nature genetics 9 (2), 173-176, 1995
4801995
Genetics of craniofacial development and malformation
AOM Wilkie, GM Morriss-Kay
Nature Reviews Genetics 2 (6), 458-468, 2001
4372001
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
M Muenke, KW Gripp, DM McDonald-McGinn, K Gaudenz, LA Whitaker, ...
American journal of human genetics 60 (3), 555, 1997
4031997
Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies
GM Morriss‐Kay, AOM Wilkie
Journal of anatomy 207 (5), 637-653, 2005
4002005
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
SP Robertson, SRF Twigg, AJ Sutherland-Smith, V Biancalana, RJ Gorlin, ...
Nature genetics 33 (4), 487-491, 2003
3732003
Exclusive paternal origin of new mutations in Apert syndrome
DM Moloney, SR Slaney, M Oldridge, SA Wall, P Sahlin, G Stenman, ...
Nature genetics 13 (1), 48-53, 1996
3341996
Craniosynostosis
D Johnson, AOM Wilkie
European Journal of Human Genetics 19 (4), 369-376, 2011
3262011
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome
SRF Twigg, R Kan, C Babbs, EG Bochukova, SP Robertson, SA Wall, ...
Proceedings of the National Academy of Sciences 101 (23), 8652-8657, 2004
3142004
Fgfr1 and Fgfr2 have distinct differentiation-and proliferation-related roles in the developing mouse skull vault
S Iseki, AO Wilkie, GM Morriss-Kay
Development 126 (24), 5611-5620, 1999
3131999
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
AR Afzal, A Rajab, CD Fenske, M Oldridge, N Elanko, E Ternes-Pereira, ...
Nature genetics 25 (4), 419-422, 2000
3062000
The molecular basis of genetic dominance.
AO Wilkie
Journal of medical genetics 31 (2), 89-98, 1994
2971994
Functions of fibroblast growth factors and their receptors
AOM Wilkie, GM Morriss-Kay, EY Jones, JK Heath
Current Biology 5 (5), 500-507, 1995
2911995
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
AOM Wilkie, Z Tang, N Elanko, S Walsh, SRF Twigg, JA Hurst, SA Wall, ...
Nature genetics 24 (4), 387-390, 2000
2882000
Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line
A Goriely, GAT McVean, M Röjmyr, B Ingemarsson, AOM Wilkie
Science 301 (5633), 643-646, 2003
2832003
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Articles 1–20