Dr Emma Hilton

The Effect of Pain Conditioning on Experimentally Evoked Cough: Evidence of Impaired Endogenous Inhibitory Control Mechanisms in Refractory Chronic Cough

Hilton, E., Satia, I., Holt, K., Woodcock, A. A., Belcher, J. & Smith, J. A., 23 Jul 2020, In : European Respiratory Journal. p. 2001387

Research output: Contribution to journal › Article › peer-review

Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.

Roberts, N., Hilton, E., Lopes, F., Randles, M., Singh, S., Gardiner, N., Chopra, K., Bajwa, Z., Coletta, R., Hall, R., Yue, W., Schaefer, F., Weber, S., Henriksson, R., Stuart, H., hedman, H., Newman, W. & Woolf, A. S., 2019, In : Kidney International.

Research output: Contribution to journal › Article › peer-review

Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus

Roberts, N., Woolf, A. S., Stuart, H. M., Thuret, R., McKenzie, E. A., Newman, W. G. & Hilton, E. N., Aug 2014, In : Human Molecular Genetics. 23, 16, p. 4302-4314 12 p., ddu147.

Research output: Contribution to journal › Article › peer-review

Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation

Woolf, A. S., Stuart, H. M., Roberts, N. A., McKenzie, E. A., Hilton, E. & Newman, W. G., 2014, In : Pediatr Nephrol. 29, 4, p. 513-8 504 p.

Research output: Contribution to journal › Article › peer-review

LRIG2 mutations cause urofacial syndrome

Stuart, H., Roberts, N., Burgu, B., Daly, S., Urquhart, J., Bhaskar, S., Dickerson, J., Mermerkaya, M., Silay, M. S., Lewis, M., Olondriz, M. B. O., Gener, B., Beetz, C., Varga, R. E., Gülpnar, Ö., Süer, E., Soygür, T., Özçakar, Z. B., Yalçnkaya, F., Kavaz, A. & 10 others, Bulum, B., Gücük, A., Yue, W. W., Erdogan, F., Berry, A., Hanley, N. A., McKenzie, E. A., Hilton, E., Woolf, A. & Newman, W., 7 Feb 2013, In : American Journal of Human Genetics. 92, 2, p. 259-264 6 p.

Research output: Contribution to journal › Article › peer-review

The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members

Maher, G. J., Hilton, E. N., Urquhart, J. E., Davidson, A. E., Spencer, H. L., Black, G. C. & Manson, F. D., 21 Jul 2011, In : FEBS Letters. 585, 14, p. 2187-2192 5 p.

Research output: Contribution to journal › Article › peer-review

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

Banka, S., Blom, H. J., Walter, J., Aziz, M., Urquhart, J., Clouthier, C. M., Rice, G. I., De Brouwer, A. P. M., Hilton, E., Vassallo, G., Will, A., Smith, D. E. C., Smulders, Y. M., Wevers, R. A., Steinfeld, R., Heales, S., Crow, Y. J., Pelletier, J. N., Jones, S. & Newman, W. G., 11 Feb 2011, In : American Journal of Human Genetics. 88, 2, p. 216-225 9 p.

Research output: Contribution to journal › Article › peer-review

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type i interferon expression signature

Briggs, T. A., Rice, G. I., Daly, S., Urquhart, J., Gornall, H., Bader-Meunier, B., Baskar, K., Baskar, S., Baudouin, V., Beresford, M. W., Black, G. C. M., Dearman, R. J., De Zegher, F., Foster, E. S., Francés, C., Hayman, A. R., Hilton, E., Job-Deslandre, C., Kulkarni, M. L., Le Merrer, M. & 20 others, Linglart, A., Lovell, S. C., Maurer, K., Musset, L., Navarro, V., Picard, C., Puel, A., Rieux-Laucat, F., Roifman, C. M., Scholl-Bürgi, S., Smith, N., Szynkiewicz, M., Wiedeman, A., Wouters, C., Zeef, L. A. H., Casanova, J. L., Elkon, K. B., Janckila, A., Lebon, P. & Crow, Y. J., Feb 2011, In : Nature Genetics. 43, 2, p. 127-131 4 p.

Research output: Contribution to journal › Article › peer-review

Mutations in HPSE2 Cause Urofacial Syndrome

Daly, S., Urquhart, J. E., Hilton, E., McKenzie, E. A., Kammerer, R., Lewis, M., Kerr, B., Stuart, H., Donnai, D., Long, D. A., Burgu, B., Aydogdu, O., Derbent, M., Garcia-Minaur, S., Reardon, W., Gener, B., Shalev, S., Smith, R., Woolf, A., Black, G. C. & 1 others, Newman, W. G., 11 Jul 2010, In : American Journal of Human Genetics. 86, 6, p. 963-969 6 p.

Research output: Contribution to journal › Article › peer-review

The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1

Hanson, D., Murray, P. G., Sud, A., Temtamy, S. A., Aglan, M., Superti-Furga, A., Holder, S. E., Urquhart, J., Hilton, E., Manson, F. D. C., Scambler, P., Black, G. C. M. & Clayton, P. E., 12 Jun 2009, In : American Journal of Human Genetics. 84, 6, p. 801-806 5 p.

Research output: Contribution to journal › Article › peer-review