| Lumasiran, an RNAi therapeutic for primary hyperoxaluria type 1 SF Garrelfs, Y Frishberg, SA Hulton, MJ Koren, WD O’Riordan, P Cochat, ... New England journal of medicine 384 (13), 1216-1226, 2021 | 329 | 2021 |
| Mutations in DHDPSL are responsible for primary hyperoxaluria type III R Belostotsky, E Seboun, GH Idelson, DS Milliner, R Becker-Cohen, ... The American Journal of Human Genetics 87 (3), 392-399, 2010 | 273 | 2010 |
| Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy D Magen, C Georgopoulos, P Bross, D Ang, Y Segev, D Goldsher, ... The American Journal of Human Genetics 83 (1), 30-42, 2008 | 254 | 2008 |
| A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome D Magen, L Berger, MJ Coady, A Ilivitzki, D Militianu, M Tieder, S Selig, ... New England Journal of Medicine 362 (12), 1102-1109, 2010 | 217 | 2010 |
| Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron, W Tan, ... Nature genetics 49 (10), 1529-1538, 2017 | 194 | 2017 |
| A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria D Magen, ELI Sprecher, I Zelikovic, K Skorecki Kidney international 67 (1), 34-41, 2005 | 126 | 2005 |
| APOL1–mediated cell injury involves disruption of conserved trafficking processes E Kruzel-Davila, R Shemer, A Ofir, I Bavli-Kertselli, I Darlyuk-Saadon, ... Journal of the American Society of Nephrology 28 (4), 1117-1130, 2017 | 103 | 2017 |
| Genetic polymorphisms of the renin-angiotensin system and the outcome of focal segmental glomerulosclerosis in children Y Frishberg, R Becker-Cohen, D Halle, E Feigin, B Eisenstein, R Halevy, ... Kidney international 54 (6), 1843-1849, 1998 | 98 | 1998 |
| Gitelman's syndrome: a pathophysiological and clinical update F Nakhoul, N Nakhoul, E Dorman, L Berger, K Skorecki, D Magen Endocrine 41 (1), 53-57, 2012 | 92 | 2012 |
| Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome C Arrondel, S Missoury, R Snoek, J Patat, G Menara, B Collinet, D Liger, ... Nature communications 10 (1), 3967, 2019 | 73 | 2019 |
| Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5 D Magen, A Ofir, L Berger, D Goldsher, A Eran, N Katib, Y Nijem, ... Human genetics 134, 305-314, 2015 | 71 | 2015 |
| A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability TC Falik‐Zaccai, M Khayat, A Luder, P Frenkel, D Magen, R Brik, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153 …, 2010 | 54 | 2010 |
| A dominant mutation in nuclear receptor interacting protein 1 causes urinary tract malformations via dysregulation of retinoic acid signaling A Vivante, N Mann, H Yonath, AC Weiss, M Getwan, MM Kaminski, ... Journal of the American Society of Nephrology 28 (8), 2364-2376, 2017 | 52 | 2017 |
| Loss of CD55 in eculizumab-responsive protein-losing enteropathy A Kurolap, O Eshach-Adiv, T Hershkovitz, T Paperna, A Mory, D Oz-Levi, ... New England Journal of Medicine 377 (1), 87-89, 2017 | 52 | 2017 |
| Phase 1/2 study of lumasiran for treatment of primary hyperoxaluria type 1: a placebo-controlled randomized clinical trial Y Frishberg, G Deschênes, JW Groothoff, SA Hulton, D Magen, ... Clinical Journal of the American Society of Nephrology 16 (7), 1025-1036, 2021 | 51 | 2021 |
| Phase 3 trial of lumasiran for primary hyperoxaluria type 1: a new RNAi therapeutic in infants and young children DJ Sas, D Magen, W Hayes, H Shasha-Lavsky, M Michael, I Schulte, ... Genetics in Medicine 24 (3), 654-662, 2022 | 44 | 2022 |
| A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm M Gal, D Magen, Y Zahran, S Ravid, A Eran, M Khayat, C Gafni, ... European journal of medical genetics 59 (4), 204-209, 2016 | 34 | 2016 |
| Low infection rates and prolonged survival times of hemodialysis catheters in infants and children I Eisenstein, M Tarabeih, D Magen, S Pollack, I Kassis, A Ofer, A Engel, ... Clinical Journal of the American Society of Nephrology 6 (4), 793-798, 2011 | 31 | 2011 |
| Low infection rates and prolonged survival times of hemodialysis catheters in infants and children I Eisenstein, M Tarabeih, D Magen, S Pollack, I Kassis, A Ofer, A Engel, ... Clinical Journal of the American Society of Nephrology 6 (4), 793-798, 2011 | 31 | 2011 |
| Lumasiran for advanced primary hyperoxaluria type 1: phase 3 ILLUMINATE-C trial M Michael, JW Groothoff, H Shasha-Lavsky, JC Lieske, Y Frishberg, ... American Journal of Kidney Diseases 81 (2), 145-155. e1, 2023 | 29 | 2023 |
