Andrew Wilkie
Andrew Wilkie
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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
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
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
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
Craniosynostosis: genes and mechanisms
AOM Wilkie
Human molecular genetics 6 (10), 1647-1656, 1997
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
D Johnson, AOM Wilkie
European Journal of Human Genetics 19 (4), 369-376, 2011
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
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
Genetics of craniofacial development and malformation
AOM Wilkie, GM Morriss-Kay
Nature Reviews Genetics 2 (6), 458-468, 2001
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
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
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
The molecular basis of genetic dominance.
AO Wilkie
Journal of medical genetics 31 (2), 89-98, 1994
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
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
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
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
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
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
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