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Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms.
Forbes TA, Howden SE, Lawlor K, Phipson B, Maksimovic J, Hale L, Wilson S, Quinlan C, Ho G, Holman K, Bennetts B, Crawford J, Trnka P, Oshlack A, Patel C, Mallett A, Simons C, Little MH. Forbes TA, et al. Among authors: trnka p. Am J Hum Genet. 2018 May 3;102(5):816-831. doi: 10.1016/j.ajhg.2018.03.014. Epub 2018 Apr 26. Am J Hum Genet. 2018. PMID: 29706353 Free PMC article.
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium; Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F. Halbritter J, et al. Among authors: trnka p. Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17. Am J Hum Genet. 2013. PMID: 24140113 Free PMC article.
A protocol for the identification and validation of novel genetic causes of kidney disease.
Mallett A, Patel C, Maier B, McGaughran J, Gabbett M, Takasato M, Cameron A, Trnka P, Alexander SI, Rangan G, Tchan MC, Caruana G, John G, Quinlan C, McCarthy HJ, Hyland V, Hoy WE, Wolvetang E, Taft R, Simons C, Healy H, Little M. Mallett A, et al. Among authors: trnka p. BMC Nephrol. 2015 Sep 15;16:152. doi: 10.1186/s12882-015-0148-8. BMC Nephrol. 2015. PMID: 26374634 Free PMC article.
Antenatally Diagnosed ADPKD.
Aldridge M, Patel C, Mallett A, Trnka P. Aldridge M, et al. Among authors: trnka p. Kidney Int Rep. 2018 May 15;3(5):1214-1217. doi: 10.1016/j.ekir.2018.05.002. eCollection 2018 Sep. Kidney Int Rep. 2018. PMID: 30197988 Free PMC article. No abstract available.
Renal genetics in Australia: Kidney medicine in the genomic age.
Jayasinghe K, Quinlan C, Stark Z, Patel C, Mallawaarachchi A, Wardrop L, Kerr PG, Trnka P, Mallett AJ; KidGen Collaborative. Jayasinghe K, et al. Among authors: trnka p. Nephrology (Carlton). 2019 Mar;24(3):279-286. doi: 10.1111/nep.13494. Epub 2018 Oct 18. Nephrology (Carlton). 2019. PMID: 30239064 Free PMC article. Review.
The Evolving Role of Diagnostic Genomics in Kidney Transplantation.
Soraru J, Chakera A, Isbel N, Mallawaarachichi A, Rogers N, Trnka P, Patel C, Mallett AJ. Soraru J, et al. Among authors: trnka p. Kidney Int Rep. 2022 May 25;7(8):1758-1771. doi: 10.1016/j.ekir.2022.05.019. eCollection 2022 Aug. Kidney Int Rep. 2022. PMID: 35967121 Free PMC article. Review.
Protocol and establishment of a Queensland renal biopsy registry in Australia.
Burke JP, Aljishi M, Francis L, Hoy W, Divi D, Cherian R, Frazier J, Gobe G, Gois P, Govindarajulu S, Huynh S, Jesudason S, John G, Madhan K, Mallett A, Manickam V, Mutatiri C, Ng SK, Thet Z, Trnka P, Venuthurupalli SK, Ranganathan D. Burke JP, et al. Among authors: trnka p. BMC Nephrol. 2020 Aug 1;21(1):320. doi: 10.1186/s12882-020-01983-7. BMC Nephrol. 2020. PMID: 32738876 Free PMC article.
Treatment and long-term outcome in primary distal renal tubular acidosis.
Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Peña H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yüksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, König J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wühl E, Ağbaş A, Belkevich A, Vargas-Poussou R, Blanchard A, Conti G, Boyer O, Dursun I, Pınarbaşı AS, Melek E, Miglinas M, Novo R, Mallett A, Milosevic D, Szczepanska M, Wente S, Cheong HI, Sinha R, Gucev Z, Dufek S, Iancu D; European dRTA Consortium; Kleta R, Schaefer F, Bockenhauer D. Lopez-Garcia SC, et al. Among authors: trnka p. Nephrol Dial Transplant. 2019 Jun 1;34(6):981-991. doi: 10.1093/ndt/gfy409. Nephrol Dial Transplant. 2019. PMID: 30773598
55 results