Selected publications

Last updated 20/03/2026

  1. Heydari D, Langlois S, Norouzi M, Myette RL, Samuel S, Zhou S, Takano T, Butler-Laporte G, Downie ML. (2026). Proteome-wide Mendelian randomization identifies APOM and TNXB as actionable mediators of steroid sensitive nephrotic syndrome. Pediatric Nephrology. In press.
  2. Voinescu CD, Mozere M, Genovese G, Downie ML, Gupta S, Gale DP, Bockenhauer D, Kleta R, Arcos-Burgos M, Stanescu HC. (2024). A Neanderthal haplotype introgressed into the human genome confers protection against membranous nephropathy. Kidney International. 105(4): 791-798.
  3. Downie ML, Gupta S, Voinescu C, Levine AP, Sadeghi-Alavijeh O, Dufek-Kamperis S, Cao J, Christian M, Kari JA, Thalgahagoda S, Ranawaka R, Abeyagunawardena A, Gbadegesin R, Parekh RS, Kleta R, Bockenhauer D, Stanescu HC, Gale DP. (2023). Common risk variants in AHI1 are associated with childhood steroid-sensitive nephrotic syndrome. Kidney International Reports. 8(8):1562-1574
  4. Downie ML, Gupta S, Chan MMY, Sadeghi-Alavijeh O, Cao J, Parekh R, Bugarin Diz C, Bierzynska, Levine AP, Pepper RJ, Stanescu H, Saleem MA, Kleta R, Bockenhauer D, Koziell A, Gale DP. (2023). Shared genetic risk between different presentations of gene test-negative idiopathic nephrotic syndrome. Pediatric Nephrology. 38(6): 1793-1800
  5. Downie ML, Lopez-Garcia SC, Kleta R, Bockenhauer D. (2021). Inherited renal tubulopathies: insights from genetics. Clinical Journal of the American Society of Nephrology. 16(4): 620-630
  6. 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). Identification of a locus on the X-chromosome linked to familial membranous nephropathy. Kidney International Reports. 6(6): 1669-1676

See full publications list