| Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair PT Bradford, AM Goldstein, D Tamura, SG Khan, T Ueda, J Boyle, KS Oh, ... Journal of medical genetics 48 (3), 168-176, 2011 | 580 | 2011 |
| Guidelines for treatment of onychomycosis DT Roberts, WD Taylor, J Boyle British Journal of Dermatology 148 (3), 402-410, 2003 | 369 | 2003 |
| Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage BP Brooks, AH Thompson, RJ Bishop, JA Clayton, CC Chan, ET Tsilou, ... Ophthalmology 120 (7), 1324-1336, 2013 | 116 | 2013 |
| Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer‐prone xeroderma pigmentosum vs. non … J Boyle, T Ueda, KS Oh, K Imoto, D Tamura, J Jagdeo, SG Khan, ... Human mutation 29 (10), 1194-1208, 2008 | 88 | 2008 |
| Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage KS Oh, K Imoto, J Boyle, SG Khan, KH Kraemer DNA repair 6 (9), 1359-1370, 2007 | 48 | 2007 |
| A p53-independent pathway regulates nucleolar segregation and antigen translocation in response to DNA damage induced by UV irradiation EA Al-Baker, J Boyle, R Harry, IR Kill Experimental cell research 292 (1), 179-186, 2004 | 45 | 2004 |
| The genomic health of human pluripotent stem cells: genomic instability and the consequences on nuclear organization MP Henry, JR Hawkins, J Boyle, JM Bridger Frontiers in genetics 9, 623, 2019 | 42 | 2019 |
| Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development R Moslehi, C Signore, D Tamura, JL Mills, JJ Digiovanna, MA Tucker, ... Clinical genetics 77 (4), 365-373, 2010 | 41 | 2010 |
| Ocular manifestations of trichothiodystrophy BP Brooks, AH Thompson, JA Clayton, CC Chan, D Tamura, WM Zein, ... Ophthalmology 118 (12), 2335-2342, 2011 | 38 | 2011 |
| High‐risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies D Tamura, M Merideth, JJ DiGiovanna, X Zhou, MA Tucker, AM Goldstein, ... Prenatal diagnosis 31 (11), 1046-1053, 2011 | 35 | 2011 |
| Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum X Zhou, SG Khan, D Tamura, T Ueda, J Boyle, E Compe, JM Egly, ... European Journal of Human Genetics 21 (8), 831-837, 2013 | 33 | 2013 |
| Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c. 2009delG mutation in XPD (ERCC2) S Emmert, T Ueda, U Zumsteg, P Weber, SG Khan, KS Oh, J Boyle, ... Experimental dermatology 18 (1), 64-68, 2009 | 33 | 2009 |
| Effect of mutations in XPD (ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum D Tamura, SG Khan, M Merideth, JJ DiGiovanna, MA Tucker, ... European journal of human genetics 20 (12), 1308-1310, 2012 | 26 | 2012 |
| XPC branch‐point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre‐mRNA splicing in xeroderma pigmentosum patients SG Khan, K Yamanegi, ZM Zheng, J Boyle, K Imoto, KS Oh, CC Baker, ... Human mutation 31 (2), 167-175, 2010 | 26 | 2010 |
| Introduction to physical rehabilitation for veterinary technicians/nurses ME Goldberg Physical rehabilitation for veterinary technicians and nurses, 1-10, 2017 | 25 | 2017 |
| Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome M Hawkins, J Boyle, KE Wright, R Elles, SC Ramsden, A O'grady, ... European Journal of Human Genetics 19 (1), 10-17, 2011 | 24 | 2011 |
| Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes J Boyle, M Hawkins, DE Barton, K Meaney, M Guitart, A O'grady, S Tobi, ... European journal of human genetics 19 (8), 857-864, 2011 | 20 | 2011 |
| Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew S Christen-Zaech, K Imoto, SG Khan, KS Oh, D Tamura, JJ DiGiovanna, ... Archives of dermatology 145 (11), 1285-1291, 2009 | 20 | 2009 |
| Heterogeneity of dimer excision in young and senescent human dermal fibroblasts J Boyle, IR Kill, CN Parris Aging cell 4 (5), 247-255, 2005 | 20 | 2005 |
| International reference reagents to standardise blood group genotyping: evaluation of candidate preparations in an international collaborative study J Boyle, SJ Thorpe, JR Hawkins, C Lockie, B Fox, P Matejtschuk, C Halls, ... Vox Sanguinis 104 (2), 144-152, 2013 | 19 | 2013 |
