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2019 Journal Article ADPedKD: A Global Online Platform on the Management of Children With ADPKDDe Rechter, Stéphanie, Bockenhauer, Detlef, Guay-Woodford, Lisa M., Liu, Isaac, Mallett, Andrew J., Soliman, Neveen A., Sylvestre, Lucimary C., Schaefer, Franz, Liebau, Max C., Mekahli, Djalila, ADPedKD Consortium, Adamczyk, P., Akinci, N., Alpay, H., Ardelean, C., Ayasreh, N., Aydin, Z., Bael, A., Baudouin, V., Bayrakci, U. S., Bensman, A., Bialkevich, H., Biebuyck, A., Boyer, O., Bjanid, O., Bryłka, A., Çalışkan, S., Cambier, A., Camelio, A. ... Zachwieja, K. (2019). ADPedKD: A Global Online Platform on the Management of Children With ADPKD. Kidney International Reports, 4 (9), 1271-1284. doi: 10.1016/j.ekir.2019.05.015 |
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2019 Journal Article Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigmJayasinghe, Kushani, White, Susan M., Kerr, Peter G., MacGregor, Duncan, Stark, Zornitza, Wilkins, Ella, Simons, Cas, Mallett, Andrew and Quinlan, Catherine (2019). Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm. BMC Nephrology, 20 (1) 330, 330. doi: 10.1186/s12882-019-1474-z |
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2019 Journal Article Pilot clinical and validation study of the PROPKD score in clinical practice amongst patients with Autosomal Dominant Polycystic Kidney DiseaseChan, Samuel, Patel, Chirag and Mallett, Andrew J. (2019). Pilot clinical and validation study of the PROPKD score in clinical practice amongst patients with Autosomal Dominant Polycystic Kidney Disease. Nephrology, 25 (3), 274-275. doi: 10.1111/nep.13640 |
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2019 Journal Article Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocolJayasinghe, Kushani, Stark, Zornitza, Patel, Chirag, Mallawaarachchi, Amali, McCarthy, Hugh, Faull, Randall, Chakera, Aron, Sundaram, Madhivanan, Jose, Matthew, Kerr, Peter, Wu, You, Wardrop, Louise, Goranitis, Ilias, Best, Stephanie, Martyn, Melissa, Quinlan, Catherine and Mallett, Andrew J. (2019). Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol. BMJ Open, 9 (8) e029541, e029541. doi: 10.1136/bmjopen-2019-029541 |
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2019 Journal Article An audit of electron microscopy in the diagnosis of focal segmental glomerulosclerosis: are current pathological techniques missing important abnormalities in the glomerular basement membrane?Davis, Justin, Tjipto, Alwie, Hegerty, Katharine and Mallett, Andrew (2019). An audit of electron microscopy in the diagnosis of focal segmental glomerulosclerosis: are current pathological techniques missing important abnormalities in the glomerular basement membrane?. F1000Research, 8 1204, 1-13. doi: 10.12688/f1000research.19997.1 |
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2019 Journal Article Genome-wide association study of medication-use and associated disease in the UK BiobankWu, Yeda, Byrne, Enda M., Zheng, Zhili, Kemper, Kathryn E., Yengo, Loic, Mallett, Andrew J., Yang, Jian, Visscher, Peter M. and Wray, Naomi R. (2019). Genome-wide association study of medication-use and associated disease in the UK Biobank. Nature Communications, 10 (1) 1891, 1891. doi: 10.1038/s41467-019-09572-5 |
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2019 Journal Article Metformin for preventing the progression of chronic kidney disease (Protocol)El‐Damanawi, Ragada, Viecelli, Andrea K., Pascoe, Elaine M., Craig, Jonathan C., Johnson, David W., Mallett, Andrew J., Hawley, Carmel M. and Hiemstra, Thomas F. (2019). Metformin for preventing the progression of chronic kidney disease (Protocol). Cochrane Database of Systematic Reviews, 2019 (9) CD013414. doi: 10.1002/14651858.CD013414 |
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2019 Journal Article Precision medicine diagnostics for rare kidney disease: Twitter as a tool in clinical genomic translationMallett, Andrew J., Quinlan, Catherine, Patel, Chirag, Fowles, Lindsay, Crawford, Joanna, Gattas, Michael, Baer, Richard, Bennetts, Bruce, Ho, Gladys, Holman, Katherine and Simons, Cas (2019). Precision medicine diagnostics for rare kidney disease: Twitter as a tool in clinical genomic translation. Kidney Medicine, 1 (5), 315-318. doi: 10.1016/j.xkme.2019.06.006 |
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2018 Journal Article Renal genetics in Australia: kidney medicine in the genomic ageJayasinghe, Kushani, Quinlan, Cathy, Stark, Zornitza, Patel, Chirag, Mallawaarachchi, Amali, Wardrop, Louise, Kerr, Peter G., Trnka, Peter, Mallett, Andrew J. and KidGen Collaborative (2018). Renal genetics in Australia: kidney medicine in the genomic age. Nephrology, 24 (3), 279-286. doi: 10.1111/nep.13494 |
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2018 Journal Article Paraneoplastic immunoglobulin A nephropathy and associated focal segmental glomerulosclerosis in asymptomatic low volume B-cell lymphoma - a case reportNg, Monica Suet Ying, Francis, Leo, Pillai, Elango and Mallett, Andrew John (2018). Paraneoplastic immunoglobulin A nephropathy and associated focal segmental glomerulosclerosis in asymptomatic low volume B-cell lymphoma - a case report. BMC Nephrology, 19 (1) 224, 224. doi: 10.1186/s12882-018-1034-y |
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2018 Journal Article CFHR5 nephropathy in a Greek-Cypriot Australian family: ancestry-informed precision medicineNg, Monica S. Y., McClymont, Kelly, McCallum, Naomi, Dua, Rahul, Holman, Katherine, Bennetts, Bruce, Ho, Gladys, Patel, Chirag and Mallett, Andrew J. (2018). CFHR5 nephropathy in a Greek-Cypriot Australian family: ancestry-informed precision medicine. Kidney International Reports, 3 (5), 1222-1228. doi: 10.1016/j.ekir.2018.04.007 |
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2018 Conference Publication Validation of a web-based clinical decision support system to predict end-stage kidney disease in an Australian immunoglobin a nephropathy cohortNg, M. S., Harfield, M., Francis, L. and Mallett, A. J. (2018). Validation of a web-based clinical decision support system to predict end-stage kidney disease in an Australian immunoglobin a nephropathy cohort. 54th Annual Scientific Meeting of the Australian and New Zealand Society of Nephrology (ANZSN), Sydney, NSW, Australia, 8–12 September 2018. Richmond, VIC, Australia: John Wiley & Sons. |
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2018 Journal Article Antenatally diagnosed ADPKDAldridge, Melanie, Patel, Chirag, Mallett, Andrew and Trnka, Peter (2018). Antenatally diagnosed ADPKD. Kidney International Reports, 3 (5), 1214-1217. doi: 10.1016/j.ekir.2018.05.002 |
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2018 Journal Article Patient-iPSC-derived kidney organoids show functional validation of a ciliopathic renal phenotype and reveal underlying pathogenetic mechanismsForbes, Thomas A., Howden, Sara E., Lawlor, Kynan, Phipson, Belinda, Maksimovic, Jovana, Hale, Lorna, Wilson, Sean, Quinlan, Catherine, Ho, Gladys, Holman, Katherine, Bennetts, Bruce, Crawford, Joanna, Trnka, Peter, Oshlack, Alicia, Patel, Chirag, Mallett, Andrew, Simons, Cas and Little, Melissa H. (2018). Patient-iPSC-derived kidney organoids show functional validation of a ciliopathic renal phenotype and reveal underlying pathogenetic mechanisms. American Journal of Human Genetics, 102 (5), 816-831. doi: 10.1016/j.ajhg.2018.03.014 |
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2018 Journal Article Meeting report of the 2017 KidGen Renal Genetics SymposiumJayasinghe, Kushani, Quinlan, Cathy, Stark, Zornitza, Patel, Chirag, Sampson, Matthew G., Saleem, Moin and Mallett, Andrew J. (2018). Meeting report of the 2017 KidGen Renal Genetics Symposium. Human Genomics, 12 (1) 5, 1-6. doi: 10.1186/s40246-018-0137-7 |
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2018 Conference Publication Clinical outcomes of parathyroidectomy in chronic kidney disease patientsJones, S., Hegerty, K., Scuderi, C., Eglington, J., Green, B. and Mallett, A. J. (2018). Clinical outcomes of parathyroidectomy in chronic kidney disease patients. 54th Annual Scientific Meeting of the Australian and New Zealand Society of Nephrology (ANZSN), Sydney, NSW Australia, 8-12 September 2018. Richmond, VIC Australia: Wiley-Blackwell Publishing Asia. |
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2018 Conference Publication Micro proteomic profiling in the diagnosis of kidney diseaseRaghubar, A., Wang, X., Kassianos, A. J., Ng, M. S., Dave, K. A., Norris, E., Headlam, M. J., Healy, H. G. and Mallett, A. J. (2018). Micro proteomic profiling in the diagnosis of kidney disease. 54th Annual Scientific Meeting of the Australian and New Zealand Society of Nephrology (ANZSN), Sydney, Australia, 8–12 September 2018. Richmond, VIC, Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/nep.13441 |
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2018 Conference Publication Assessing the impact of hyperuricaemia, gout and allopurinol treatment on progression of renal function in patients with chronic kidney diseaseJeyaruban, A., Hoy, W. E., Cameron, A., Healy, H. G., Zhang, J. and Mallett, A. J. (2018). Assessing the impact of hyperuricaemia, gout and allopurinol treatment on progression of renal function in patients with chronic kidney disease. 54th Annual Scientific Meeting of the Australian and New Zealand Society of Nephrology (ANZSN), Sydney, Australia, 8-12 September 2018. Richmond, VIC Australia: Wiley-Blackwell Publishing Asia. |
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2018 Conference Publication Long-term outcome and treatment practices in distal renal tubular acidosisLopez Garcia, Sergio Camilo , Emma, Francesco , Walsh, Stephen , Fila, Marc , Hooman, Nakysa , Marcin, Zaniew , Bertholet‐Thomas, Aurélia , Colussi, Giacomo , Ebner, Kathrin , Levtchenko, Elena , Sharma, Jyoti , Singhal, Jyoti , Soliman, Neveen A. , Ariceta, Gema , Basu, Biswanath, Murer, Luisa , Tasic, Velibor , Tsygin, Alexey , Decramer, Stéphane , Gil-peña, Helena , Koster‐kamphuis, Linda , La Scola, Claudio , Gellermann, Jutta , Konrad, Martin , Lilien, Marc , Francisco, Telma , Tramma, Despoina , Trnka, Peter , Yuksel, Selcuk ... Bockenhauer, Detlef (2018). Long-term outcome and treatment practices in distal renal tubular acidosis. 51st Annual ESPN Meeting, Antalya, Turkey, October 2018. Heidelberg, Germany: Springer. doi: 10.1007/s00467-018-4028-x |
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2018 Conference Publication PROPKD score predicts kidney decline in clinical practice amongst Australian patients with autosomal dominant polycystic kidney diseaseChan, S., Patel, C. and Mallett, A. J. (2018). PROPKD score predicts kidney decline in clinical practice amongst Australian patients with autosomal dominant polycystic kidney disease. Australian and New Zealand Society of Nephrology (ANZSN) Annual Scientific Meeting, Sydney, NSW, Australia, 8-12 September 2018. Hoboken, NJ, United States: Wiley. |
