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,
M13 9WL


  • 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



  • Lennon, R., Stuart, H. M., Bierzynska, A., Randles, M., Kerr, B., Hillman, K., ... Woolf, A. (2015). Coinheritance of COL4A5 and MYO1E mutations accentuate severity of kidney disease.Pediatric Nephrology, 30, 1459-1465. DOI:10.1007/s00467-015-3067-9. Publication link: 2e4ec8bc-1b7b-4bf9-8529-a2953e70e3dc | PubMed:25739341
  • Vivante, A., Kleppa, M-J., Schulz, J., Kohl, S., Sharma, A., Chen, J., ... Hildebrandt, F. (2015). Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.American Journal of Human Genetics, 97(2), 291-301. DOI:10.1016/j.ajhg.2015.07.001. Publication link: 619634e5-40b0-41c2-9540-7cbc350777d6 | PubMed:26235987



  • Stuart, H., Roberts, N., Burgu, B., Daly, S., Urquhart, J., Bhaskar, S., ... Newman, W. (2013). LRIG2 mutations cause urofacial syndrome. American Journal of Human Genetics, 92(2), 259-264. DOI:10.1016/j.ajhg.2012.12.002. Publication link: 1eeed1cd-c861-4218-ab86-7ce591e051e4 | PubMed:23313374
  • Newman, W. G., Woolf, A. S., Stuart, H. M., Pagon, R. A. (Ed.), Adam, M. P. (Ed.), Ardinger, H. H. (Ed.), ... Stephens, K. (Ed.) (2013). Urofacial Syndrome. In GeneReviews(R). Seattle (WA). . Publication link: 33d12f64-5d97-44fd-953e-dfbb401ed40f


  • Weber, S., Thiele, H., Mir, S., Toliat, M. R., Sozeri, B., Reutter, H., ... Woolf, A. S. (2011). Muscarinic acetylcholine receptor m3 mutation causes urinary bladder disease and a prune-belly-like syndrome. American Journal of Human Genetics, 89(5), 668-674. DOI:10.1016/j.ajhg.2011.10.007. Publication link: 0bf7f33c-0436-46bf-8a4d-ef8433120bc6 | PubMed:22077972