Dr Helen Stuart MBChB, MRCPCH, PhD

Photograph of Helen Stuart

NIHR Clinical Lecturer

Manchester Centre for Genomic Medicine,
University of Manchester,
6th Floor, St Mary's Hospital,
Oxford Road,
Manchester
M13 9WL

Role

  • Clinical Lecturer 
  • Trainee in Clinical Genetics

Memberships of Committees and Professional Bodies

  • British Society for Genetic Medicine
  • UK Clinical Genetics Society 
  • Royal College of Paediatrics and Child Health
  • General Medical Council

Selected publications

2014

  • Roberts, N., Woolf, A., Stuart, H., Thuret, R., McKenzie, E., Newman, W. & Hilton, E (2014). Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus. Hum Mol Genet, 23(16), 4302-14. eScholarID:260233 | DOI:10.1093/hmg/ddu147
  • Stuart, et al (2014). Urinary Tract Effects of HPSE2 Mutations. J Am Soc Nephrol, eScholarID:260234 | DOI:10.1681/ASN.2013090961
  • Woolf, A., Stuart, H. & Newman, W (2014). Genetics of human congenital urinary bladder disease. Pediatr Nephrol, 29(3), 353-60. eScholarID:260236 | DOI:10.1007/s00467-013-2472-1
  • Woolf, A., Stuart, H., Roberts, N., McKenzie, E., Hilton, E. & Newman, W (2014). Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation. Pediatr Nephrol, 29(4), 513-8. eScholarID:260237 | DOI:10.1007/s00467-013-2552-2

2013

  • Newman, W., Woolf, A. & Stuart, H (2013). Urofacial Syndrome. In Pagon, R., Adam, M., Ardinger, H., Bird, T., Dolan, C., Fong, C., Smith, R. & Stephens, K. (Ed.), GeneReviews(R). Seattle (WA). eScholarID:260232
  • Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson JE, Mermerkaya M, Silay MS, Lewis MA, Olondriz MB, Gener B, Beetz C, Varga RE, Gülpınar O, Süer E, Soygür T, Ozçakar ZB, Yalçınkaya F, Kavaz A, Bulum B, Gücük A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. (2013). LRIG2 mutations cause urofacial syndrome. A J H G, 92(2), 259-264. eScholarID:232644 | DOI:10.1016/j.ajhg.2012.12.002

2011

  • Weber, S., Thiele, H., Mir, S., Toliat, M., Sozeri, B., Reutter, H., Draaken, M., Ludwig, M., Altmuller, J., Frommolt, P., Stuart, H., Ranjzad, P., Hanley, N., Jennings, R., Newman, W., Wilcox, D., Thiel, U., Schlingmann, K., Beetz, R., Hoyer, P., Konrad, M., Schaefer, F., Nurnberg, P. & Woolf, A (2011). Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am J Hum Genet, 89(5), 668-74. eScholarID:260235 | DOI:10.1016/j.ajhg.2011.10.007

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