| Factors influencing success of clinical genome sequencing across a broad spectrum of disorders JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, ... Nature genetics 47 (7), 717-726, 2015 | 421 | 2015 |
| Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum SE Williams, AAC Reed, J Galvanovskis, C Antignac, T Goodship, ... Human molecular genetics 18 (16), 2963-2974, 2009 | 136 | 2009 |
| Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients CM Gorvin, MJ Wilmer, SE Piret, B Harding, LP van den Heuvel, O Wrong, ... Proceedings of the National Academy of Sciences 110 (17), 7014-7019, 2013 | 95 | 2013 |
| Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy P Jennings, S Aydin, P Kotanko, J Lechner, K Lhotta, S Williams, ... Journal of the American Society of Nephrology 18 (1), 264-273, 2007 | 89 | 2007 |
| Association between genotype and phenotype in uromodulin-associated kidney disease JL Moskowitz, SE Piret, K Lhotta, TM Kitzler, AP Tashman, E Velez, ... Clinical Journal of the American Society of Nephrology 8 (8), 1349-1357, 2013 | 77 | 2013 |
| CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease AAC Reed, NY Loh, S Terryn, JD Lippiat, C Partridge, J Galvanovskis, ... American Journal of Physiology-Renal Physiology 298 (2), F365-F380, 2010 | 75 | 2010 |
| Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal KJ Bradley, MR Bowl, SE Williams, BN Ahmad, CJ Partridge, ... Oncogene 26 (8), 1213-1221, 2007 | 73 | 2007 |
| Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent’s disease F Wu, AAC Reed, SE Williams, NY Loh, JD Lippiat, PT Christie, O Large, ... Nephron Physiology 112 (4), p53-p62, 2009 | 58 | 2009 |
| Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with … MR Bowl, SM Mirczuk, IV Grigorieva, SE Piret, T Cranston, L Southam, ... Human molecular genetics 19 (10), 2028-2038, 2010 | 49 | 2010 |
| Identification of a G‐Protein Subunit‐α11 Gain‐of‐Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2) SE Piret, CM Gorvin, AT Pagnamenta, SA Howles, T Cranston, N Rust, ... Journal of Bone and Mineral Research 31 (6), 1207-1214, 2016 | 47 | 2016 |
| A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress SE Piret, E Olinger, AAC Reed, MA Nesbit, TA Hough, L Bentley, ... Disease models & mechanisms 10 (6), 773-786, 2017 | 43 | 2017 |
| Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5 NY Loh, L Bentley, H Dimke, S Verkaart, P Tammaro, CM Gorvin, ... PloS one 8 (1), e55412, 2013 | 43 | 2013 |
| Loss of proximal tubular transcription factor Krüppel-like factor 15 exacerbates kidney injury through loss of fatty acid oxidation SE Piret, AA Attallah, X Gu, Y Guo, NA Gujarati, J Henein, A Zollman, ... Kidney International 100 (6), 1250-1267, 2021 | 39 | 2021 |
| Krüppel-like factor 6–mediated loss of BCAA catabolism contributes to kidney injury in mice and humans SE Piret, Y Guo, AA Attallah, SJ Horne, A Zollman, D Owusu, J Henein, ... Proceedings of the National Academy of Sciences 118 (23), e2024414118, 2021 | 39 | 2021 |
| Mouse models for inherited endocrine and metabolic disorders. SE Piret, RV Thakker The Journal of endocrinology 211 (3), 211-230, 2011 | 39 | 2011 |
| MEN1 Gene Replacement Therapy Reduces Proliferation Rates in a Mouse Model of Pituitary Adenomas GV Walls, MC Lemos, M Javid, M Bazan-Peregrino, J Jeyabalan, ... Cancer research 72 (19), 5060-5068, 2012 | 37 | 2012 |
| Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22. 1-p21 SE Piret, P Danoy, K Dahan, AAC Reed, K Pryce, W Wong, RJ Torres, ... Human genetics 129, 51-58, 2011 | 37 | 2011 |
| Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy CM Gorvin, FM Hannan, SA Howles, VN Babinsky, SE Piret, A Rogers, ... JCI insight 2 (3), 2017 | 36 | 2017 |
| Epidemiology of uromodulin-associated kidney disease–results from a nation-wide survey K Lhotta, SE Piret, R Kramar, RV Thakker, G Sunder-Plassmann, ... Nephron Extra 2 (1), 147-158, 2012 | 30 | 2012 |
| Podocyte-specific loss of Krüppel-like factor 6 increases mitochondrial injury in diabetic kidney disease SJ Horne, JM Vasquez, Y Guo, V Ly, SE Piret, AR Leonardo, J Ling, ... Diabetes 67 (11), 2420-2433, 2018 | 26 | 2018 |
