| 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, 2014 | 1092 | 2014 |
| 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, 2003 | 466 | 2003 |
| 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, 2015 | 402 | 2015 |
| 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 |
| 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, 2000 | 329 | 2000 |
| Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis S Kan, N Elanko, D Johnson, L Cornejo-Roldan, J Cook, EW Reich, ... The American Journal of Human Genetics 70 (2), 472-486, 2002 | 305 | 2002 |
| Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis AOM Wilkie, JC Byren, JA Hurst, J Jayamohan, D Johnson, SJL Knight, ... Pediatrics 126 (2), e391-e400, 2010 | 296 | 2010 |
| De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome M Oldridge, EH Zackai, DM McDonald-McGinn, S Iseki, GM Morriss-Kay, ... The American Journal of Human Genetics 64 (2), 446-461, 1999 | 287 | 1999 |
| A genetic-pathophysiological framework for craniosynostosis SRF Twigg, AOM Wilkie The American Journal of Human Genetics 97 (3), 359-377, 2015 | 252 | 2015 |
| Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis VP Sharma, AL Fenwick, MS Brockop, SJ McGowan, JAC Goos, ... Nature genetics 45 (3), 304, 2013 | 211 | 2013 |
| A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21. 1 D Johnson, SW Horsley, DM Moloney, M Oldridge, SRF Twigg, S Walsh, ... The American Journal of Human Genetics 63 (5), 1282-1293, 1998 | 199 | 1998 |
| A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis T Schwerd, SRF Twigg, D Aschenbrenner, S Manrique, KA Miller, ... Journal of Experimental Medicine 214 (9), 2547-2562, 2017 | 183 | 2017 |
| Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis SRF Twigg, E Vorgia, SJ McGowan, I Peraki, AL Fenwick, VP Sharma, ... Nature genetics 45 (3), 308, 2013 | 165 | 2013 |
| Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates K Belaya, S Finlayson, CR Slater, J Cossins, WW Liu, S Maxwell, ... The American Journal of Human Genetics 91 (1), 193-201, 2012 | 162 | 2012 |
| Genotype-Phenotype Correlation for Nucleotide Substitutions in the IgII-IgIII Linker of FGFR2 M Oldridge, PW Lunt, EH Zackai, DM McDonald-McGinn, M Muenke, ... Human molecular genetics 6 (1), 137-143, 1997 | 157 | 1997 |
| New insights into craniofacial malformations SRF Twigg, AOM Wilkie Human molecular genetics 24 (R1), R50-R59, 2015 | 154 | 2015 |
| Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene SRF Twigg, SL Versnel, G Nürnberg, MM Lees, M Bhat, P Hammond, ... The American Journal of Human Genetics 84 (5), 698-705, 2009 | 139 | 2009 |
| Diagnostic value of exome and whole genome sequencing in craniosynostosis KA Miller, SRF Twigg, SJ McGowan, JM Phipps, AL Fenwick, D Johnson, ... Journal of medical genetics 54 (4), 260-268, 2017 | 125 | 2017 |
| A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects FP Favaro, L Alvizi, RM Zechi-Ceide, D Bertola, TM Felix, J de Souza, ... The American Journal of Human Genetics 94 (1), 120-128, 2014 | 118 | 2014 |
| The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males SRF Twigg, K Matsumoto, AMJ Kidd, A Goriely, IB Taylor, RB Fisher, ... The American Journal of Human Genetics 78 (6), 999-1010, 2006 | 109 | 2006 |
Andrew WilkieUniversity of OxfordVerified email at imm.ox.ac.uk
