| Doctors' communication of trust, care, and respect in breast cancer: qualitative study EB Wright, C Holcombe, P Salmon Bmj 328 (7444), 864, 2004 | 424 | 2004 |
| Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848 M Koczkowska, Y Chen, T Callens, A Gomes, A Sharp, S Johnson, ... The American Journal of Human Genetics 102 (1), 69-87, 2018 | 193 | 2018 |
| Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis E Flex, M Jaiswal, F Pantaleoni, S Martinelli, M Strullu, EK Fansa, A Caye, ... Human molecular genetics 23 (16), 4315-4327, 2014 | 157 | 2014 |
| Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance EMMB Wright, HL Spencer, SB Daly, FDC Manson, LAH Zeef, J Urquhart, ... The American Journal of Human Genetics 88 (6), 767-777, 2011 | 128 | 2011 |
| Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance J Clayton-Smith, S Walters, E Hobson, E Burkitt-Wright, R Smith, ... European Journal of Human Genetics 17 (4), 434-443, 2009 | 103 | 2009 |
| Comprehensive RNA analysis of the NF1 gene in classically affected NF1 affected individuals meeting NIH criteria has high sensitivity and mutation negative testing is … DG Evans, N Bowers, E Burkitt-Wright, E Miles, S Garg, V Scott-Kitching, ... EBioMedicine 7, 212-220, 2016 | 83 | 2016 |
| Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline E Giannoulatou, G McVean, IB Taylor, SJ McGowan, GJ Maher, Z Iqbal, ... Proceedings of the National Academy of Sciences 110 (50), 20152-20157, 2013 | 76 | 2013 |
| Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome J Urosevic, V Sauzeau, ML Soto-Montenegro, S Reig, M Desco, ... Proceedings of the National Academy of Sciences 108 (12), 5015-5020, 2011 | 75 | 2011 |
| ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components M Rohrbach, HL Spencer, LF Porter, EMM Burkitt-Wright, C Bürer, ... Molecular genetics and metabolism 109 (3), 289-295, 2013 | 73 | 2013 |
| Brittle cornea syndrome: recognition, molecular diagnosis and management EMM Burkitt Wright, LF Porter, HL Spencer, J Clayton-Smith, L Au, ... Orphanet journal of rare diseases 8, 1-11, 2013 | 67 | 2013 |
| Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway S Garg, A Brooks, A Burns, E Burkitt‐Wright, B Kerr, S Huson, R Emsley, ... Developmental Medicine & Child Neurology 59 (5), 544-549, 2017 | 57 | 2017 |
| Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues KA Rauen, SM Huson, E Burkitt‐Wright, DG Evans, S Farschtschi, ... American Journal of Medical Genetics Part A 167 (1), 1-10, 2015 | 56 | 2015 |
| Cinacalcet as an adjunct in the successful treatment of calciphylaxis A Sharma, E Burkitt‐Wright, R Rustom British Journal of Dermatology 155 (6), 1295-1297, 2006 | 52 | 2006 |
| Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome AT Pagnamenta, PJ Kaisaki, F Bennett, E Burkitt‐Wright, HC Martin, ... Clinical genetics 95 (6), 693-703, 2019 | 45 | 2019 |
| Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts V Dunnett-Kane, E Burkitt-Wright, FH Blackhall, A Malliri, DG Evans, ... Annals of oncology 31 (7), 873-883, 2020 | 44 | 2020 |
| RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature EMMB Wright, B Kerr Archives of disease in childhood 95 (9), 724-730, 2010 | 40 | 2010 |
| Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis EMMB Wright, E Sach, S Sharif, O Quarrell, T Carroll, RW Whitehouse, ... Journal of Medical Genetics 50 (9), 606-613, 2013 | 37 | 2013 |
| X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions EMMB Wright, R Perveen, PE Clayton, CM Hall, T Costa, AM Procter, ... Clinical dysmorphology 18 (4), 218-221, 2009 | 31 | 2009 |
| The sixth international RASopathies symposium: precision medicine—from promise to practice KW Gripp, L Schill, L Schoyer, B Stronach, AM Bennett, S Blaser, A Brown, ... American Journal of Medical Genetics Part A 182 (3), 597-606, 2020 | 30 | 2020 |
| Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val EMM Burkitt‐Wright, L Bradley, J Shorto, VPM McConnell, C Gannon, ... American Journal of Medical Genetics Part A 158 (5), 1102-1110, 2012 | 29 | 2012 |
Evans DG*, Evans G*University of ManchesterΗ διεύθυνση ηλεκτρονικού ταχυδρομείου έχει επαληθευτεί στον τομέα mft.nhs.uk
