| Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature TA Briggs, GI Rice, S Daly, J Urquhart, H Gornall, B Bader-Meunier, ... Nature genetics 43 (2), 127-131, 2011 | 258 | 2011 |
| Mutations in GDF6 are associated with vertebral segmentation defects in Klippel‐Feil syndrome M Tassabehji, ZM Fang, EN Hilton, J McGaughran, Z Zhao, CE de Bock, ... Human mutation 29 (8), 1017-1027, 2008 | 215 | 2008 |
| Transgender women in the female category of sport: perspectives on testosterone suppression and performance advantage EN Hilton, TR Lundberg Sports Medicine 51, 199-214, 2021 | 159 | 2021 |
| Mutations in HPSE2 cause urofacial syndrome SB Daly, JE Urquhart, E Hilton, EA McKenzie, RA Kammerer, M Lewis, ... The American Journal of Human Genetics 86 (6), 963-969, 2010 | 115 | 2010 |
| Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency S Banka, HJ Blom, J Walter, M Aziz, J Urquhart, CM Clouthier, GI Rice, ... The American Journal of Human Genetics 88 (2), 216-225, 2011 | 113 | 2011 |
| BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects E Hilton, J Johnston, S Whalen, N Okamoto, Y Hatsukawa, J Nishio, ... European Journal of Human Genetics 17 (10), 1325-1335, 2009 | 109 | 2009 |
| The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1 D Hanson, PG Murray, A Sud, SA Temtamy, M Aglan, A Superti-Furga, ... The American Journal of Human Genetics 84 (6), 801-806, 2009 | 106 | 2009 |
| LRIG2 mutations cause urofacial syndrome HM Stuart, NA Roberts, B Burgu, SB Daly, JE Urquhart, S Bhaskar, ... The American Journal of Human Genetics 92 (2), 259-264, 2013 | 85 | 2013 |
| Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination EN Hilton, FDC Manson, JE Urquhart, JJ Johnston, AM Slavotinek, ... Human molecular genetics 16 (14), 1773-1782, 2007 | 62 | 2007 |
| Multiple interactions between maternally-activated signalling pathways control Xenopus nodal-related genes. M Rex, E Hilton, R Old International Journal of Developmental Biology 46 (2), 217-226, 2002 | 47 | 2002 |
| Urinary tract effects of HPSE2 mutations HM Stuart, NA Roberts, EN Hilton, EA McKenzie, SB Daly, KD Hadfield, ... Journal of the American Society of Nephrology 26 (4), 797-804, 2015 | 36 | 2015 |
| Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder NA Roberts, EN Hilton, FM Lopes, S Singh, MJ Randles, NJ Gardiner, ... Kidney International 95 (5), 1138-1152, 2019 | 35 | 2019 |
| VegT activation of the early zygotic gene Xnr5 requires lifting of Tcf-mediated repression in the Xenopus blastula E Hilton, M Rex, R Old Mechanisms of development 120 (10), 1127-1138, 2003 | 35 | 2003 |
| Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus NA Roberts, AS Woolf, HM Stuart, R Thuret, EA McKenzie, WG Newman, ... Human Molecular Genetics 23 (16), 4302-4314, 2014 | 34 | 2014 |
| The effect of pain conditioning on experimentally evoked cough: evidence of impaired endogenous inhibitory control mechanisms in refractory chronic cough E Hilton, I Satia, K Holt, AA Woodcock, J Belcher, JA Smith European Respiratory Journal 56 (6), 2020 | 28 | 2020 |
| Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation AS Woolf, HM Stuart, NA Roberts, EA McKenzie, EN Hilton, WG Newman Pediatric nephrology 29, 513-518, 2014 | 27 | 2014 |
| The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members GJ Maher, EN Hilton, JE Urquhart, AE Davidson, HL Spencer, GC Black, ... FEBS letters 585 (14), 2187-2192, 2011 | 23 | 2011 |
| De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy EN Hilton, GCM Black, FDC Manson, DF Schorderet, FL Munier British journal of ophthalmology 91 (8), 1083-1084, 2007 | 13 | 2007 |
| Experimental long-term diabetes mellitus alters the transcriptome and biomechanical properties of the rat urinary bladder EA Hindi, CJ Williams, LAH Zeef, FM Lopes, K Newman, MMM Davey, ... Scientific reports 11 (1), 15529, 2021 | 10 | 2021 |
| The reality of sex E Hilton, P Thompson, C Wright, D Curtis Irish Journal of Medical Science (1971-) 190 (4), 1647-1647, 2021 | 9 | 2021 |
