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2018

Journal Article

Patient-iPSC-derived kidney organoids show functional validation of a ciliopathic renal phenotype and reveal underlying pathogenetic mechanisms

Forbes, 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

Patient-iPSC-derived kidney organoids show functional validation of a ciliopathic renal phenotype and reveal underlying pathogenetic mechanisms

2018

Journal Article

Meeting report of the 2017 KidGen Renal Genetics Symposium

Jayasinghe, 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

Meeting report of the 2017 KidGen Renal Genetics Symposium

2018

Conference Publication

Adult-diagnosed non-syndromic nephronophthesis in Australian families caused by biallelic NPHP4 variants

Hudson, R., Patel, C., Hawley, C., O'Shea, S., Snelling, P., Crawford, J., Simons, C. and Mallett, A. J. (2018). Adult-diagnosed non-syndromic nephronophthesis in Australian families caused by biallelic NPHP4 variants. 54th Annual Scientific Meeting of the Australian and New Zealand Society of Nephrology (ANZSN), Sydney, Australia, 8-12 September 2018. Richmond, VIC 3121 Australia: Wiley-Blackwell Publishing Asia.

Adult-diagnosed non-syndromic nephronophthesis in Australian families caused by biallelic NPHP4 variants

2018

Conference Publication

Clinical outcomes of parathyroidectomy in chronic kidney disease patients

Jones, 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.

Clinical outcomes of parathyroidectomy in chronic kidney disease patients

2018

Conference Publication

Micro proteomic profiling in the diagnosis of kidney disease

Raghubar, 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

Micro proteomic profiling in the diagnosis of kidney disease

2018

Conference Publication

Assessing the impact of hyperuricaemia, gout and allopurinol treatment on progression of renal function in patients with chronic kidney disease

Jeyaruban, 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.

Assessing the impact of hyperuricaemia, gout and allopurinol treatment on progression of renal function in patients with chronic kidney disease

2018

Conference Publication

Long-term outcome and treatment practices in distal renal tubular acidosis

Lopez 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

Long-term outcome and treatment practices in distal renal tubular acidosis

2018

Conference Publication

PROPKD score predicts kidney decline in clinical practice amongst Australian patients with autosomal dominant polycystic kidney disease

Chan, 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.

PROPKD score predicts kidney decline in clinical practice amongst Australian patients with autosomal dominant polycystic kidney disease

2018

Conference Publication

Cost-effectiveness in kidney medicine: is cinacalcet superior to parathyroidectomy?

Hegerty, K., Jones, S., Scuderi, C., Eglington, J., Broadbent, T., Zhang, H. and Mallett, A. J. (2018). Cost-effectiveness in kidney medicine: is cinacalcet superior to parathyroidectomy?. 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.

Cost-effectiveness in kidney medicine: is cinacalcet superior to parathyroidectomy?

2018

Conference Publication

Does the type of intervention for ischaemic heart disease impact on mortality and morbidity in patients with chronic kidney disease?

Jeyaruban, A., Hoy, W. E., Cameron, A., Healy, H. G., Zhang, J. and Mallett, A. J. (2018). Does the type of intervention for ischaemic heart disease impact on mortality and morbidity 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.

Does the type of intervention for ischaemic heart disease impact on mortality and morbidity in patients with chronic kidney disease?

2017

Journal Article

The increasing rates of acute interstitial nephritis in Australia: a single centre case series

Wilson, 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

The increasing rates of acute interstitial nephritis in Australia: a single centre case series

2017

Journal Article

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders

Mallett, 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

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders

2017

Journal Article

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

Connor, 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

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

2017

Journal Article

Recurrent atypical haemolytic uraemic syndrome post kidney transplant due to a CD46 mutation in the setting of SMARCAL1-mediated inherited kidney disease

Chan, 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

Recurrent atypical haemolytic uraemic syndrome post kidney transplant due to a CD46 mutation in the setting of SMARCAL1-mediated inherited kidney disease

2017

Journal Article

Monoclonal gammopathy of renal significance triggering atypical haemolytic uraemic syndrome : MGRS triggering aHUS

Mahmood, 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

Monoclonal gammopathy of renal significance triggering atypical haemolytic uraemic syndrome : MGRS triggering aHUS

2017

Conference Publication

Paraneoplastic immunoglobulin a nephropathy and associated focal segmental glomerulosclerosis in asymptomatic low volume B-cell lymphoma

Ng, M. S. Y., Francis, L., Pillai, E. and Mallett, A. J. (2017). Paraneoplastic immunoglobulin a nephropathy and associated focal segmental glomerulosclerosis in asymptomatic low volume B-cell lymphoma. Annual Scientific Meeting of the Australian and New Zealand Society of Nephrology (ANZSN), Darwin, NT, Australia, 4–6 September 2017. Richmond, VIC, Australia: Wiley.

Paraneoplastic immunoglobulin a nephropathy and associated focal segmental glomerulosclerosis in asymptomatic low volume B-cell lymphoma

2016

Other Outputs

Genetic diagnostics in genetic renal disease: Methods, applications and therapeutics

Mallett, Andrew (2016). Genetic diagnostics in genetic renal disease: Methods, applications and therapeutics. PhD Thesis, School of Medicine, The University of Queensland. doi: 10.14264/414964

Genetic diagnostics in genetic renal disease: Methods, applications and therapeutics

2016

Journal Article

KHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease

Rangan, 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

KHA-CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease

2016

Journal Article

Polypoid change of the glomerular basement membrane in a child with steroid resistant nephrotic syndrome and ARHGAP24 mutation: a case report

Francis, 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

Polypoid change of the glomerular basement membrane in a child with steroid resistant nephrotic syndrome and ARHGAP24 mutation: a case report

2016

Journal Article

A multidisciplinary renal genetics clinic improves patient diagnosis

Mallett, 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

A multidisciplinary renal genetics clinic improves patient diagnosis