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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 |
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2020 Journal Article Kidney transplant recipient’s perceptions of blood testing through microsampling and venepunctureScuderi, Carla E., Parker, Suzanne L., Jacks, Margaret, John, George, McWhinney, Brett, Ungerer, Jacobus, Mallett, Andrew, Roberts, Jason A., Healy, Helen and Staatz, Christine E. (2020). Kidney transplant recipient’s perceptions of blood testing through microsampling and venepuncture. Bioanalysis, 12 (13) bio-2020-0057, 873-881. doi: 10.4155/bio-2020-0057 |
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2020 Journal Article A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorderJones, Lynelle K., Lam, Rachel, McKee, Karen K., Aleksandrova, Maya, Dowling, John, Alexander, Stephen I., Mallawaarachchi, Amali, Cottle, Denny L., Short, Kieran M., Pais, Lynn, Miner, Jeffery H., Mallett, Andrew J., Simons, Cas, McCarthy, Hugh, Yurchenco, Peter D. and Smyth, Ian M. (2020). A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder. Development, 147 (21) dev189183, dev.189183. doi: 10.1242/dev.189183 |
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2020 Journal Article Impact of cardiovascular events on mortality and progression of renal dysfunction in a Queensland CKD cohortJeyaruban, Andrew, Hoy, Wendy, Cameron, Anne, Healy, Helen, Wang, Zaimin, Zhang, Jianzhen and Mallett, Andrew (2020). Impact of cardiovascular events on mortality and progression of renal dysfunction in a Queensland CKD cohort. Nephrology, 25 (11), e13745-844. doi: 10.1111/nep.13745 |
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2020 Journal Article Clinical and healthcare utilization outcomes of parathyroidectomy in CKD and dialysis patientsJones, Scott A., Hegerty, Katharine, Scuderi, Carla, Eglington, Jessica, Green, Ben and Mallett, Andrew (2020). Clinical and healthcare utilization outcomes of parathyroidectomy in CKD and dialysis patients. Kidney International Reports, 5 (7), 1086-1089. doi: 10.1016/j.ekir.2020.04.026 |
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2020 Journal Article Parental health spillover effects of paediatric rare genetic conditionsWu, You, Al-Janabi, Hareth, Mallett, Andrew, Quinlan, Catherine, Scheffer, Ingrid E., Howell, Katherine B., Christodoulou, John, Leventer, Richard J., Lockhart, Paul J., Stark, Zornitza, Boughtwood, Tiffany and Goranitis, Ilias (2020). Parental health spillover effects of paediatric rare genetic conditions. Quality of Life Research, 29 (9), 2445-2454. doi: 10.1007/s11136-020-02497-3 |
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2020 Journal Article Diagnoses of uncertain significance: kidney genetics in the 21st centuryGale, Daniel P., Mallett, Andrew, Patel, Chirag, Sneddon, Tam P., Rehm, Heidi L., Sampson, Matthew G. and Bockenhauer, Detlef (2020). Diagnoses of uncertain significance: kidney genetics in the 21st century. Nature Reviews Nephrology, 16 (11), 616-618. doi: 10.1038/s41581-020-0277-6 |
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2020 Journal Article The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, AustraliaMallett, Andrew, Kearey, Phoebe, Cameron, Anne, Healy, Helen, Denaro, Charles, Thomas, Mark, Lee, Vincent W., Stark, Samantha, Fuller, Maria and Hoy, Wendy E. (2020). The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia. BMC Nephrology, 21 (1) 58, 58. doi: 10.1186/s12882-020-01717-9 |
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2020 Journal Article Toward transparency in nephrology researchFrancis, Anna and Mallett, Andrew (2020). Toward transparency in nephrology research. Kidney International Reports, 5 (2), 118-120. doi: 10.1016/j.ekir.2019.11.019 |
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2020 Journal Article Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD studyJahan, Sadia, Sarathchandran, Subashini, Akhter, Shamina, Goldblatt, Jack, Stark, Samantha, Crawford, Douglas, Mallett, Andrew and Thomas, Mark (2020). Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study. Orphanet Journal of Rare Diseases, 15 (1) 10, 10. doi: 10.1186/s13023-019-1290-3 |
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2020 Journal Article Genetic Kidney Disease in Southern TasmaniaBrailsford, Gabrielle, Cash, Ellie, Burke, Jo, Kirkland, Geoff, Wallis, Mathew, Mallett, Andrew and Jose, Matthew D. (2020). Genetic Kidney Disease in Southern Tasmania. Kidney International Reports, 5 (4), 534-537. doi: 10.1016/j.ekir.2020.01.015 |
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2019 Journal Article Adult-diagnosed nonsyndromic nephronophthisis in Australian families caused by biallelic NPHP4 variantsHudson, Rebecca, Patel, Chirag, Hawley, Carmel M., O'Shea, Stacey, Snelling, Paul, Ho, Gladys, Holman, Katherine, Bennetts, Bruce, Crawford, Joanna, Francis, Leo, Simons, Cas and Mallett, Andrew (2019). Adult-diagnosed nonsyndromic nephronophthisis in Australian families caused by biallelic NPHP4 variants. American Journal of Kidney Diseases, 76 (2), 282-287. doi: 10.1053/j.ajkd.2019.08.031 |
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2019 Journal Article Proposed minimum information guideline for kidney disease - Research and clinical data reporting: A cross-sectional studyKumuthini, Judit, Van Woerden, Christiaan, Mallett, Andrew, Zass, Lyndon, Chaouch, Melek, Thompson, Michael, Johnston, Katherine, Mbiyavanga, Mamana, Baichoo, Shakuntala, Mungloo-DIlmohamud, Zahra, Patel, Chirag and Mulder, Nicola (2019). Proposed minimum information guideline for kidney disease - Research and clinical data reporting: A cross-sectional study. BMJ Open, 9 (11) e029539, e029539. doi: 10.1136/bmjopen-2019-029539 |
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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 |
