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null Mallory Downie, MD

Junior Scientist, RI-MUHC , 5252 de Maisonneuve

Child Health and Human Development Program

Centre for Outcomes Research and Evaluation

 

Keywords


genetics • bioinformatics • genomics • proteomics • pediatric nephrology

Research Focus


My research focuses on the identification of new genes and genetic risk factors in childhood kidney disease. I do this by performing genetic association studies such as genome-wide association studies and Mendelian randomization studies. My goal is to use human genetics to improve clinical care in nephrology.

Selected Publications


Click on Pubmed to see my current publications list

  • Downie ML, Gupta S, Tekman MC, Cheshire C, Arora S, Licht C, Robinson LA, Munoz M, Aris AM, Al Attrach I, Brenchley PE, Gale DP, Stanescu H, Bockenhauer D, Kleta R. (2021). Identificiation of a locus on the X-chromosome linked to familial membranous nephropathy. Kidney International Reports. 6(6): 1229-1676. PMID: 34169208.

  • Downie ML*, Lopez-Garcia SC*, Kleta R, Bockenhauer D. (2021). Inhertied renal tubulopathies: insights from genetics. Clinical Journal of the American Society of Nephrology. 16(4): 620-630. PMID: 32238367.

  • Lopez-Garcia SC, Downie ML, Kim JS, Boyer O, co-authors, Bockenhauer D. (2020). Treatment and long-term outcome in primary nephrogenic diabetes insipidus. Nephrology Dialysis Transplantation. PMID: 33367818.

  • Dufek-Kamperis S, Kleta R, Bockenhauer D, Gale D, Downie ML. (2021). Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood. Pediatric Nephrology. 36(8): 2165-2175. PMID: 33084934.