| 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 | 1088 | 1995 |
| 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 | 1086 | 2014 |
| 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 | 912 | 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 | 815 | 1989 |
| Craniosynostosis: genes and mechanisms AOM Wilkie Human molecular genetics 6 (10), 1647-1656, 1997 | 655 | 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 | 625 | 1995 |
| Craniosynostosis D Johnson, AOM Wilkie European Journal of Human Genetics 19 (4), 369-376, 2011 | 539 | 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 | 538 | 1995 |
| Genetics of craniofacial development and malformation AOM Wilkie, GM Morriss-Kay Nature Reviews Genetics 2 (6), 458-468, 2001 | 525 | 2001 |
| 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 | 524 | 2005 |
| 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 | 466 | 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 | 460 | 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 | 401 | 2015 |
| The molecular basis of genetic dominance. AO Wilkie Journal of medical genetics 31 (2), 89-98, 1994 | 388 | 1994 |
| 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 | 380 | 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 | 374 | 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 | 369 | 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 | 363 | 2000 |
| 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 | 362 | 2021 |
| 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 | 353 | 1999 |
