Aoife Waters 医生
概述
Dr Aoife Waters is a specialist in children’s kidney disease with 20 years of working in tertiary paediatric centres in Ireland, UK and Canada and within Nephrology, for 15 years. The Scope of her practice includes acute inpatient Nephrology consultations, outpatient clinics for General Nephrology and specialist expertise in children’s glomerular disorders such as nephrotic syndrome.
Dr Aoife Waters is a principal investigator on clinical trials for new therapies for glomerular diseases and work collaboratively with colleagues for rare renal diseases. The latter includes delineating the cause, understanding the mechanism through collaboration with scientists within UCL and internationally.
相关资质
- Acute inpatient Nephrology consultations
- Outpatient clinics for General Nephrology
- Specialist expertise in children’s glomerular disorders such as nephrotic syndrome, haemolytic uraemic syndrome and glomerulonephritis
- Glomerular disorders such as nephrotic syndrome, haemolytic uraemic syndrome and glomerulonephritis
MB BAO BCh MSc PhD
- Specialist expertise in children’s glomerular disorders such as nephrotic syndrome, haemolytic uraemic syndrome and glomerulonephritis
- Genetics of rare renal disorders
新闻和论文发表
1. TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes. Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E, Klaver CCW, Houlden H, Eslahi A, Waters AM; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Aggarwal VS, de Vries BBA, Maroofian R, Doherty D.Van De Weghe JC, et al. HGG Adv. 2021 Jan 14;2(1):100016. doi: 10.1016/j.xhgg.2020.100016.
2. Pseudouridylation defect due to DKC1 and NOP10 mutations cause nephrotic syndrome with cataracts, hearing impairment and enterocolitis. Balogh E, Chandler J, Varga M, Tahoun M, Menyhard DK, Schay G…AM Waters, T Kalman. [co-senior authors] Proc Natl Acad Sci U S A. 2020 Jun 30;117(26):15137-15147. doi: 10.1073/pnas.2002328117.
3. Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism. Tahoun M, Chandler JC, Ashton E, Haston S, Hannan A, Kim JS, D'Arco F, Bockenhauer D, Anderson G, Lin MH, Marzouk S, Saied MH, Miner JH, Dattani MT, Waters AM. J Clin Endocrinol Metab. 2020 Mar 1;105(3).
4. Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome. Dufek S, Cheshire C, Levine AP, Trompeter RS, Issler N, Stubbs M, Mozere M, Gupta S, Klootwijk E, Patel V, Hothi D, Waters A, Webb H, Tullus K, Jenkins L, Godinho L, Levtchenko E, Wetzels J, Knoers N, Teeninga N, Nauta J, Shalaby M, Eldesoky S, Kari JA, Thalgahagoda S, Ranawaka R, Abeyagunawardena A, Adeyemo A, Kristiansen M, Gbadegesin R, Webb NJ, Gale DP, Stanescu HC, Kleta R, Bockenhauer D. J Am Soc Nephrol. 2019 Aug;30(8):1375-1384.
5. Malformations in the Murine Kidney Caused by Loss of CENP-F Function. Haley CO, Waters AM, Bader DM. Anat Rec (Hoboken). 2019 Jan;302(1):163-170.
6. Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations. Chesher D, Oddy M, Darbar U, Sayal P, Casey A, Ryan A, Sechi A, Simister C, Waters A, Wedatilake Y, Lachmann RH, Murphy E. J Inherit Metab Dis. 2018 Sep;41(5):865-876. doi: 10.1007/s10545-018-0147-6.
7. Activation of podocyte Notch mediates early Wt1 glomerulopathy. Asfahani R, Tahoun M, Virasami, A, Bellerby J, Sadee C, Sebire NJ, Schedl A, Hohenstein P, Hastie ND, Scambler PJ, Waters AM. Kidney Int. 2018 Apr;93(4):903-920.
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