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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
10881995
Integrating mapping-, assembly-and haplotype-based approaches for calling variants in clinical sequencing applications
A Rimmer, H Phan, I Mathieson, Z Iqbal, SRF Twigg, WGS500 Consortium, ...
Nature genetics 46 (8), 912-918, 2014
10842014
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
9092014
A review of the molecular genetics of the human α-globin gene cluster
DR Higgs, MA Vickers, AOM Wilkie, IM Pretorius, AP Jarman, ...
Blood 73 (5), 1081-1104, 1989
8141989
Craniosynostosis: genes and mechanisms
AOM Wilkie
Human molecular genetics 6 (10), 1647-1656, 1997
6541997
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
6231995
Craniosynostosis
D Johnson, AOM Wilkie
European Journal of Human Genetics 19 (4), 369-376, 2011
5372011
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
5361995
Genetics of craniofacial development and malformation
AOM Wilkie, GM Morriss-Kay
Nature Reviews Genetics 2 (6), 458-468, 2001
5242001
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
5232005
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
4652003
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
4591997
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, ...
Nature genetics 47 (7), 717-726, 2015
3982015
The molecular basis of genetic dominance.
AO Wilkie
Journal of medical genetics 31 (2), 89-98, 1994
3871994
Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease
A Goriely, AOM Wilkie
The American Journal of Human Genetics 90 (2), 175-200, 2012
3782012
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
3732004
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
3701996
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
3612000
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot Investigators
New England Journal of Medicine 385 (20), 1868-1880, 2021
3592021
Fgfr1 and Fgfr2 have distinct differentiation- and proliferation-related roles in the developing mouse skull vault
S Iseki, AOM Wilkie, GM Morriss-Kay
Development 126 (24), 5611-5620, 1999
3521999
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