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2022 Journal Article Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNAViering, Daan, Schlingmann, Karl P., Hureaux, Marguerite, Nijenhuis, Tom, Mallett, Andrew, Chan, Melanie M. Y., van Beek, André, van Eerde, Albertien M., Coulibaly, Jean-Marie, Vallet, Marion, Decramer, Stéphane, Pelletier, Solenne, Klaus, Günter, Kömhoff, Martin, Beetz, Rolf, Patel, Chirag, Shenoy, Mohan, Steenbergen, Eric J., Anderson, Glenn, Bongers, Ernie M. H. F., Bergmann, Carsten, Panneman, Daan, Rodenburg, Richard J., Kleta, Robert, Houillier, Pascal, Konrad, Martin, Vargas-Poussou, Rosa, Knoers, Nine V. A. M., Bockenhauer, Detlef ... Genomics England Research Consortium (2022). Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA. Journal of the American Society of Nephrology : JASN, 33 (2), 305-325. doi: 10.1681/ASN.2021050596 |
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2022 Journal Article National and international kidney failure registries: characteristics, commonalities, and contrastsNg, Monica S.Y., Charu, Vivek, Johnson, David W., O'Shaughnessy, Michelle M. and Mallett, Andrew J. (2022). National and international kidney failure registries: characteristics, commonalities, and contrasts. Kidney International, 101 (1), 23-35. doi: 10.1016/j.kint.2021.09.024 |
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2021 Journal Article Australia and New Zealand renal gene panel testing in routine clinical practice of 542 familiesTanudisastro, Hope A., Holman, Katherine, Ho, Gladys, Farnsworth, Elizabeth, Fisk, Katrina, Gayagay, Thet, Hackett, Emma, Jenkins, Gemma, Krishnaraj, Rahul, Lai, Tiffany, Wong, Karen, Patel, Chirag, Mallawaarachchi, Amali, Mallett, Andrew J., Bennetts, Bruce, Alexander, Stephen I. and McCarthy, Hugh J. (2021). Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families. npj Genomic Medicine, 6 (1) 20, 20. doi: 10.1038/s41525-021-00184-x |
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2021 Journal Article Cost-effectiveness of targeted exome analysis as a diagnostic test in glomerular diseasesJayasinghe, Kushani, Wu, You, Stark, Zornitza, Kerr, Peter G., Mallett, Andrew J., Gaff, Clara, Martyn, Melissa, Goranitis, Ilias and Quinlan, Catherine (2021). Cost-effectiveness of targeted exome analysis as a diagnostic test in glomerular diseases. Kidney International Reports, 6 (11), 2850-2861. doi: 10.1016/j.ekir.2021.08.028 |
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2021 Journal Article Monogenic nephrolithiasis—collision of phenotypes, genotypes, and phenocopiesMallett, Andrew (2021). Monogenic nephrolithiasis—collision of phenotypes, genotypes, and phenocopies. Kidney International Reports, 6 (11), 2737-2739. doi: 10.1016/j.ekir.2021.09.012 |
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2021 Journal Article Multi-phenotype genome-wide association studies of the Norfolk Island isolate implicate pleiotropic loci involved in chronic kidney diseaseTran, Ngan K., Lea, Rodney A., Holland, Samuel, Nguyen, Quan, Raghubar, Arti M., Sutherland, Heidi G., Benton, Miles C., Haupt, Larisa M., Blackburn, Nicholas B., Curran, Joanne E., Blangero, John, Mallett, Andrew J. and Griffiths, Lyn R. (2021). Multi-phenotype genome-wide association studies of the Norfolk Island isolate implicate pleiotropic loci involved in chronic kidney disease. Scientific reports, 11 (1) 19425, 19425. doi: 10.1038/s41598-021-98935-4 |
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2021 Journal Article Birt-Hogg-Dubé syndrome and hereditary leiomyomatosis and renal cell carcinoma syndrome: An effective multidisciplinary approach to hereditary renal cancer predisposing syndromesAl-Shinnag, Mohammad, Marfan, Helen, Susman, Rachel, Wakeling, Jan, Gustafson, Sonja, Wood, Simon and Mallett, Andrew John (2021). Birt-Hogg-Dubé syndrome and hereditary leiomyomatosis and renal cell carcinoma syndrome: An effective multidisciplinary approach to hereditary renal cancer predisposing syndromes. Frontiers in Oncology, 11 738822, 738822. doi: 10.3389/fonc.2021.738822 |
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2021 Journal Article Bleeding complications of percutaneous kidney biopsy: Does gender matter?Anpalahan, Aksharaa, Malacova, Eva, Hegerty, Katharine, Mallett, Andrew, Ranganathan, Dwarakanathan, Healy, Helen G. and Gois, Pedro Henrique Franca (2021). Bleeding complications of percutaneous kidney biopsy: Does gender matter?. Kidney360, 2 (8), 1308-1312. doi: 10.34067/kid.0002432021 |
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2021 Journal Article Hyperuricaemia, gout and allopurinol in the CKD Queensland registryJeyaruban, A., Hoy, W., Cameron, A., Healy, H., Wang, Z., Zhang, J. and Mallett, A. (2021). Hyperuricaemia, gout and allopurinol in the CKD Queensland registry. Journal of Nephrology, 34 (3), 753-762. doi: 10.1007/s40620-020-00937-4 |
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2021 Journal Article Clinical versus research genomics in kidney diseaseMallett, Andrew J., Knoers, Nine, Sayer, John and Stark, Zornitza (2021). Clinical versus research genomics in kidney disease. Nature Reviews Nephrology, 17 (9), 570-571. doi: 10.1038/s41581-021-00436-0 |
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2021 Journal Article Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencingMallawaarachchi, Amali C., Lundie, Ben, Hort, Yvonne, Schonrock, Nicole, Senum, Sarah R., Gayevskiy, Velimir, Minoche, Andre E., Hollway, Georgina, Ohnesorg, Thomas, Hinchcliffe, Marcus, Patel, Chirag, Tchan, Michel, Mallett, Andrew, Dinger, Marcel E., Rangan, Gopala, Cowley, Mark J., Harris, Peter C., Burnett, Leslie, Shine, John and Furlong, Timothy J. (2021). Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing. European Journal of Human Genetics, 29 (5), 760-770. doi: 10.1038/s41431-020-00796-4 |
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2021 Journal Article Per-treatment post hoc analysis of clinical trial outcomes with tolvaptan in ADPKDMallett, Andrew J., Perrone, Ronald D., Rangan, Gopala, Hawley, Carmel, El-Damanawi, Ragada, Hiemstra, Thomas F., Arellano, Carolina Townsend, Lee, Jennifer and Torres, Vicente E. (2021). Per-treatment post hoc analysis of clinical trial outcomes with tolvaptan in ADPKD. Kidney International Reports, 6 (4), 1032-1040. doi: 10.1016/j.ekir.2021.01.014 |
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2021 Journal Article Attitudes and practices of Australian nephrologists toward implementation of clinical genomicsJayasinghe, Kushani, Quinlan, Catherine, Mallett, Andrew J., Kerr, Peter G., McClaren, Belinda, Nisselle, Amy, Mallawaarachchi, Amali, Polkinghorne, Kevan R., Patel, Chirag, Best, Stephanie and Stark, Zornitza (2021). Attitudes and practices of Australian nephrologists toward implementation of clinical genomics. Kidney International Reports, 6 (2), 272-283. doi: 10.1016/j.ekir.2020.10.030 |
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2021 Journal Article Multiple cerebral aneurysms in an adult with autosomal recessive polycystic kidney diseaseGately, Ryan, Lock, Gregory, Patel, Chirag, Clouston, John, Hawley, Carmel and Mallett, Andrew (2021). Multiple cerebral aneurysms in an adult with autosomal recessive polycystic kidney disease. Kidney International Reports, 6 (1), 219-223. doi: 10.1016/j.ekir.2020.10.001 |
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2021 Journal Article Clinical Outcomes of People With Fabry Disease — ANZDATA Registry StudyNg, Monica S., Malacova, Eva, Hurst, Cameron, Johnson, David W. and Mallett, Andrew J. (2021). Clinical Outcomes of People With Fabry Disease — ANZDATA Registry Study. Kidney International Reports, 6 (9), 2481-2485. doi: 10.1016/j.ekir.2021.06.013 |
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2021 Journal Article Clinical impact of genomic testing in patients with suspected monogenic kidney diseaseJayasinghe, Kushani, Stark, Zornitza, Kerr, Peter G., Gaff, Clara, Martyn, Melissa, Whitlam, John, Creighton, Belinda, Donaldson, Elizabeth, Hunter, Matthew, Jarmolowicz, Anna, Johnstone, Lilian, Krzesinski, Emma, Lunke, Sebastian, Lynch, Elly, Nicholls, Kathleen, Patel, Chirag, Prawer, Yael, Ryan, Jessica, See, Emily J., Talbot, Andrew, Trainer, Alison, Tytherleigh, Rigan, Valente, Giulia, Wallis, Mathew, Wardrop, Louise, West, Kirsty H., White, Susan M., Wilkins, Ella, Mallett, Andrew J. and Quinlan, Catherine (2021). Clinical impact of genomic testing in patients with suspected monogenic kidney disease. Genetics in Medicine, 23 (1), 183-191. doi: 10.1038/s41436-020-00963-4 |
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2020 Journal Article Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney diseaseHuynh, Vinh T., Audrézet, Marie-Pierre, Sayer, John A., Ong, Albert C., Lefevre, Siriane, Le Brun, Valoris, Després, Aurore, Senum, Sarah R., Chebib, Fouad T., Barroso-Gil, Miguel, Patel, Chirag, Mallett, Andrew J., Goel, Himanshu, Mallawaarachchi, Amali C., Van Eerde, Albertien M, Ponlot, Eléonore, Kribs, Marc, Genkyst Study Group, Genomics England Research Consortium, Le Meur, Yannick, Harris, Peter C. and Cornec-Le Gall, Emilie (2020). Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease. Kidney international, 98 (2), 476-487. doi: 10.1016/j.kint.2020.02.022 |
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2020 Journal Article DNAJB11-Related Atypical ADPKD in a Kidney Transplant DonorWilson, Gregory J., Wood, Simon, Patel, Chirag, Oliver, Kimberley, John, George, Ranganathan, Dwarakanathan, Mallett, Andrew and Isbel, Nicole (2020). DNAJB11-Related Atypical ADPKD in a Kidney Transplant Donor. Kidney International Reports, 5 (8), 1363-1366. doi: 10.1016/j.ekir.2020.05.022 |
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2020 Journal Article Protocol and establishment of a Queensland renal biopsy registry in AustraliaBurke, Joseph Patrick, Aljishi, Manaf, Francis, Leo, Hoy, Wendy, Divi, Dakshinamurthy, Cherian, Roy, Frazier, Jeremy, Gobe, Glenda, Gois, Pedro, Govindarajulu, Sridevi, Huynh, Sonny, Jesudason, Shilpanjali, John, George, Madhan, Krishan, Mallett, Andrew, Manickam, Valli, Mutatiri, Clyson, Ng, Shu-Kay, Thet, Zaw, Trnka, Peter, Venuthurupalli, Sree Krishna and Ranganathan, Dwarakanathan (2020). Protocol and establishment of a Queensland renal biopsy registry in Australia. BMC Nephrology, 21 (1) 320, 320. doi: 10.1186/s12882-020-01983-7 |
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2020 Journal Article ABO blood group relationships to kidney transplant recipient and graft outcomesNg, Monica S. Y., Ullah, Shahid, Wilson, Gregory, McDonald, Stephen, Sypek, Matthew and Mallett, Andrew J. (2020). ABO blood group relationships to kidney transplant recipient and graft outcomes. PLoS One, 15 (7) e0236396, e0236396. doi: 10.1371/journal.pone.0236396 |
