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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 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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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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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 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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2017 Journal Article The increasing rates of acute interstitial nephritis in Australia: a single centre case seriesWilson, Gregory J., Kark, Adrian L., Francis, Leo P., Hoy, Wendy, Healy, Helen G. and Mallett, Andrew J. (2017). The increasing rates of acute interstitial nephritis in Australia: a single centre case series. BMC Nephrology, 18 (1) 329, 1-8. doi: 10.1186/s12882-017-0747-7 |
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2017 Journal Article Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disordersMallett, Andrew J., McCarthy, Hugh J., Ho, Gladys, Holman, Katherine, Farnsworth, Elizabeth, Patel, Chirag, Fletcher, Jeffery T., Mallawaarachchi, Amali, Quinlan, Catherine, Bennetts, Bruce and Alexander, Stephen I. (2017). Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders. Kidney International, 92 (6), 1493-1506. doi: 10.1016/j.kint.2017.06.013 |
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2017 Journal Article Mutations in mitochondrial DNA causing tubulointerstitial kidney diseaseConnor, Thomas M., Hoer, Simon, Mallett, Andrew, Gale, Daniel P., Gomez-Duran, Aurora, Posse, Viktor, Antrobus, Robin, Moreno, Pablo, Sciacovelli, Marco, Frezza, Christian, Duff, Jennifer, Sheerin, Neil S., Sayer, John A., Ashcroft, Margaret, Wiesener, Michael S., Hudson, Gavin, Gustafsson, Claes M., Chinnery, Patrick F. and Maxwell, Patrick H. (2017). Mutations in mitochondrial DNA causing tubulointerstitial kidney disease. PLoS Genetics, 13 (3) e1006620, e1006620. doi: 10.1371/journal.pgen.1006620 |
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2017 Journal Article Recurrent atypical haemolytic uraemic syndrome post kidney transplant due to a CD46 mutation in the setting of SMARCAL1-mediated inherited kidney diseaseChan, Samuel, Mallett, Andrew J., Patel, Chirag, Francis, Ross S., Johnson, David W., Mudge, David W. and Isbel, Nicole M. (2017). Recurrent atypical haemolytic uraemic syndrome post kidney transplant due to a CD46 mutation in the setting of SMARCAL1-mediated inherited kidney disease. Nephrology, 22 (S1), 11-14. doi: 10.1111/nep.12933 |
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2017 Journal Article Monoclonal gammopathy of renal significance triggering atypical haemolytic uraemic syndrome : MGRS triggering aHUSMahmood, Usman, Isbel, Nicole, Mollee, Peter, Mallett, Andrew, Govindarajulu, Sridevi and Francis, Ross (2017). Monoclonal gammopathy of renal significance triggering atypical haemolytic uraemic syndrome : MGRS triggering aHUS. Nephrology, 22 (S1), 15-17. doi: 10.1111/nep.12934 |
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2016 Journal Article KHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney diseaseRangan, Gopala K., Alexander, Stephen I., Campbell, Katrina L., Dexter, Mark A. J., Lee, Vincent W., Lopez-Vargas, Pamela, Mai, Jun, Mallett, Andrew, Patel, Chirag, Patel, Manish, Tchan, Michel C., Tong, Allison, Tunnicliffe, David J., Vladica, Philip and Savige, Judy (2016). KHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease. Nephrology, 21 (8), 705-716. doi: 10.1111/nep.12658 |
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2016 Journal Article Polypoid change of the glomerular basement membrane in a child with steroid resistant nephrotic syndrome and ARHGAP24 mutation: a case reportFrancis, Anna, Burke, John, Francis, Leo, McTaggart, Steven and Mallett, Andrew (2016). Polypoid change of the glomerular basement membrane in a child with steroid resistant nephrotic syndrome and ARHGAP24 mutation: a case report. Open Urology & Nephrology Journal, 9 (1), 88-93. doi: 10.2174/1874303X01609010088 |
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2016 Journal Article Identifying and integrating consumer perspectives in clinical practice guidelines on autosomal-dominant polycystic kidney diseaseTong, Allison, Tunnicliffe, David J., Lopez-Vargas, Pamela, Mallett, Andrew, Patel, Chirag, Savige, Judy, Campbell, Katrina, Patel, Manish, Tchan, Michel C., Alexander, Stephen I., Lee, Vincent, Craig, Jonathan C., Fassett, Robert and Rangan, Gopala K. (2016). Identifying and integrating consumer perspectives in clinical practice guidelines on autosomal-dominant polycystic kidney disease. Nephrology, 21 (2), 122-132. doi: 10.1111/nep.12579 |
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2016 Journal Article A multidisciplinary renal genetics clinic improves patient diagnosisMallett, Andrew, Fowles, Lindsay F., McGaughran, Julie, Healy, Helen and Patel, Chirag (2016). A multidisciplinary renal genetics clinic improves patient diagnosis. Medical Journal of Australia, 204 (2), 58-59. doi: 10.5694/mja15.01157 |
