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2019 Journal Article Treatment and long-term outcome in primary distal renal tubular acidosisLopez-Garcia, Sergio Camilo, Emma, Francesco, Walsh, Stephen B., Fila, Marc, Hooman, Nakysa, Zaniew, Marcin, Bertholet-Thomas, Aurélia, Colussi, Giacomo, Burgmaier, 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, Yüksel, Selçuk ... Bockenhauer, Detlef (2019). Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrology Dialysis Transplantation, 34 (6), 981-991. doi: 10.1093/ndt/gfy409 |
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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 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 The impact of donor/recipient age difference and HLA mismatch on graft outcome in pediatric kidney transplantationTrnka, Peter, McTaggart, Steven J. and Francis, Anna (2018). The impact of donor/recipient age difference and HLA mismatch on graft outcome in pediatric kidney transplantation. Pediatric Transplantation, 22 (7) e13265, e13265. doi: 10.1111/petr.13265 |
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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 Therapeutic plasma exchange normalizes insulin-mediated response in a child with type 1 diabetes and insulin autoimmune syndromeSharwood, Erin F., Hughes, Ian P., Pretorius, Carel J., Trnka, Peter, Peake, Jane and Huynh, Tony (2018). Therapeutic plasma exchange normalizes insulin-mediated response in a child with type 1 diabetes and insulin autoimmune syndrome. Pediatric Diabetes, 48 (1), S89-179. doi: 10.1111/pedi.12522 |
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2016 Journal Article Long-term outcome of kidney transplantation in recipients with focal segmental glomerulosclerosisFrancis, Anna, Trnka, Peter and McTaggart, Steven J. (2016). Long-term outcome of kidney transplantation in recipients with focal segmental glomerulosclerosis. Clinical Journal of the American Society of Nephrology, 11 (11), 2041-2046. doi: 10.2215/CJN.03060316 |
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2015 Journal Article A protocol for the identification and validation of novel genetic causes of kidney diseaseMallett, Andrew, Patel, Chirag, Maier, Barbara, McGaughran, Julie, Gabbett, Michael, Takasato, Minoru, Cameron, Anne, Trnka, Peter, Alexander, Stephen I., Rangan, Gopala, Tchan, Michel C., Caruana, Georgina, John, George, Quinlan, Cathy, McCarthy, Hugh J., Hyland, Valentine, Hoy, Wedy E., Wolvetang, Ernst, Taft, Ryan, Simons, Cas, Healy H. and Little, Melissa (2015). A protocol for the identification and validation of novel genetic causes of kidney disease. BMC Nephrology, 16 (152) 148, 152. doi: 10.1186/s12882-015-0148-8 |
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2015 Journal Article A retrospective review of telehealth services for children referred to a paediatric nephrologistTrnka, Peter, White, Megan M., Renton, William D., McTaggart, Steven J., Burke, John R. and Smith, Anthony C. (2015). A retrospective review of telehealth services for children referred to a paediatric nephrologist. BMC Nephrology, 16 (125) 125, 1-7. doi: 10.1186/s12882-015-0127-0 |
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2015 Journal Article KHA-CARI guideline: diagnosis and treatment of urinary tract infection in childrenMcTaggart, Steven, Danchin, Margie, Ditchfield, Michael, Hewitt, Ian, Kausman, Joshua, Kennedy, Sean, Trnka, Peter and Williams, Gabrielle (2015). KHA-CARI guideline: diagnosis and treatment of urinary tract infection in children. Nephrology, 20 (2), 55-60. doi: 10.1111/nep.12349 |
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2014 Journal Article Reninoma: an uncommon cause of renin-mediated hypertensionTrnka, Peter, Orellana, Luisa, Walsh, Mark, Pool, Louis and Borzi, Peter (2014). Reninoma: an uncommon cause of renin-mediated hypertension. Frontiers in Pediatrics, 2 (89) 89, 1-7. doi: 10.3389/fped.2014.00089 |
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2013 Journal Article Henoch-Schonlein purpura in childrenTrnka, Peter (2013). Henoch-Schonlein purpura in children. Journal of Paediatrics and Child Health, 49 (12), 995-1003. doi: 10.1111/jpc.12403 |
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2013 Journal Article Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in HumansHalbritter, Jan, Bizet, Albane A., Schmidts, Miriam, Porath, Jonathan D., Braun, Daniela A., Gee, Heon Yung, McInerney-Leo, Aideen M., Krug, Pauline, Filhol, Emilie, Davis, Erica E., Airik, Rannar, Czarnecki, Peter G., Lehman, Anna M., Trnka, Peter, Nitschke, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stephane, Szabo, Attila J., Tory, Kalman, Leo, Paul J., Gardiner, Brooke, McKenzie, Fiona A., Zankl, Andreas, Brown, Matthew A., Hartley, Jane L., Maher, Eamonn R., Li, Chunmei ... Hildebrandt, Friedhelm (2013). Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans. American Journal of Human Genetics, 93 (5), 915-925. doi: 10.1016/j.ajhg.2013.09.012 |
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2013 Journal Article Urinary tract obstruction in the mouse: the kinetics of distal nephron injuryHiatt, Michael J., Ivanova, Larissa, Trnka, Peter, Solomon, Marc and Matsell, Douglas G. (2013). Urinary tract obstruction in the mouse: the kinetics of distal nephron injury. Laboratory Investigation, 93 (9), 1012-1023. doi: 10.1038/labinvest.2013.90 |
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2013 Journal Article Progressive multifocal leukoencephalopathy with gastrointestinal disease in a pediatric kidney transplant recipientBurke, M. T., Trnka, P., Walsh, M., Poole, L., McTaggart, S. J. and Burke, J. R. (2013). Progressive multifocal leukoencephalopathy with gastrointestinal disease in a pediatric kidney transplant recipient. Pediatric Transplantation, 17 (5), E119-E124. doi: 10.1111/petr.12107 |
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2012 Journal Article Congenital urinary tract obstruction: defining markers of developmental kidney injuryTrnka, Peter, Hiatt, Michael J., Tarantal, Alice F. and Matsell, Douglas G. (2012). Congenital urinary tract obstruction: defining markers of developmental kidney injury. Pediatric Research, 72 (5), 446-454. doi: 10.1038/pr.2012.113 |
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2012 Journal Article Urinary biomarkers in obstructive nephropathyTrnka, Peter, Ivanova, Larissa, Hiatt, Michael J. and Matsell, Douglas G. (2012). Urinary biomarkers in obstructive nephropathy. Clinical Journal of the American Society of Nephrology, 7 (10), 1567-1575. doi: 10.2215/CJN.09640911 |
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2012 Journal Article Hypothesis: SLC12A3 polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistanceMammen, Cherry, Rupps, Rosemarie, Trnka, Peter and Boerkoel, Cornelius F. (2012). Hypothesis: SLC12A3 polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance. European Journal of Medical Genetics, 55 (2), 96-98. doi: 10.1016/j.ejmg.2011.12.006 |
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2011 Journal Article Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategyOtto, Edgar A., Ramaswami, Gokul, Janssen, Sabine, Chaki, Moumita, Allen, Susan J., Zhou, Weibin, Airik, Rannar, Hurd, Toby W., Ghosh, Amiya K., Wolf, Matthias T., Hoppe, Bernd, Neuhaus, Thomas J., Bockenhauer, Detlef, Milford, David V., Soliman, Neveen A., Antignac, Corinne, Saunier, Sophie, Johnson, Colin A., Hildebrandt, Friedhelm, GPN Study Group and Trnka,Peter (2011). Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Journal of Medical Genetics, 48 (2), 105-116. doi: 10.1136/jmg.2010.082552 |
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2010 Journal Article Co-occurence of Joubert Syndrome and Jeune Asphyxiating Thoracic DystrophyLehman, A. M., Eydoux, E., Doherty, D., Glass, I. A., Chitayat, D., Hon-Yin, Chung B., Langlois, S., Yong, S. L., Lowry, B., Hildrebrandt, F. and Trnka, P. (2010). Co-occurence of Joubert Syndrome and Jeune Asphyxiating Thoracic Dystrophy. American Journal of Medical Genetics Part A, 152A (6), 1411-1419. doi: 10.1002/ajmg.a.33416 |
