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

Publications

2015

  • 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

2014

2013

  • 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

2011

  • 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

2010