Selected publications
Last updated 03/10/2023
1. 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
2. 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
3. Adi M, Ghanbari F, Downie ML, Hung A, Robinson-Cohen C, Manousaki D. (2023). Effects of 25 hydroxyvitamin D levels on renal function: a bidirectional Mendelian randomization study. The Journal of Clinical Endocrinology & Metabolism. 108(6): 1442-1451
4. 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
5. 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
6. Dufek-Kamperis S, Kleta R, Bockenhauer D, Gale DP, Downie ML. (2020). Novel insights in the genetics of steroid sensitive nephrotic syndrome in childhood. Pediatric Nephrology. 36(8): 2165-2175