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Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families.
Tanudisastro HA, Holman K, Ho G, Farnsworth E, Fisk K, Gayagay T, Hackett E, Jenkins G, Krishnaraj R, Lai T, Wong K, Patel C, Mallawaarachchi A, Mallett AJ, Bennetts B, Alexander SI, McCarthy HJ. Tanudisastro HA, et al. Among authors: patel c. NPJ Genom Med. 2021 Mar 4;6(1):20. doi: 10.1038/s41525-021-00184-x. NPJ Genom Med. 2021. PMID: 33664247 Free PMC article.
DNAJB11-Related Atypical ADPKD in a Kidney Transplant Donor.
Wilson GJ, Wood S, Patel C, Oliver K, John G, Ranganathan D, Mallett A, Isbel N. Wilson GJ, et al. Among authors: patel c. Kidney Int Rep. 2020 Jun 2;5(8):1363-1366. doi: 10.1016/j.ekir.2020.05.022. eCollection 2020 Aug. Kidney Int Rep. 2020. PMID: 32775842 Free PMC article. No abstract available.
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K, Stark Z, Kerr PG, Gaff C, Martyn M, Whitlam J, Creighton B, Donaldson E, Hunter M, Jarmolowicz A, Johnstone L, Krzesinski E, Lunke S, Lynch E, Nicholls K, Patel C, Prawer Y, Ryan J, See EJ, Talbot A, Trainer A, Tytherleigh R, Valente G, Wallis M, Wardrop L, West KH, White SM, Wilkins E, Mallett AJ, Quinlan C. Jayasinghe K, et al. Among authors: patel c. Genet Med. 2021 Jan;23(1):183-191. doi: 10.1038/s41436-020-00963-4. Epub 2020 Sep 17. Genet Med. 2021. PMID: 32939031 Free PMC article.
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
Mallawaarachchi AC, Lundie B, Hort Y, Schonrock N, Senum SR, Gayevskiy V, Minoche AE, Hollway G, Ohnesorg T, Hinchcliffe M, Patel C, Tchan M, Mallett A, Dinger ME, Rangan G, Cowley MJ, Harris PC, Burnett L, Shine J, Furlong TJ. Mallawaarachchi AC, et al. Among authors: patel c. Eur J Hum Genet. 2021 May;29(5):760-770. doi: 10.1038/s41431-020-00796-4. Epub 2021 Jan 12. Eur J Hum Genet. 2021. PMID: 33437033 Free PMC article.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jone… See abstract for full author list ➔ Bournazos AM, et al. Among authors: patel sg, patel c. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology.
Soraru J, Jahan S, Quinlan C, Simons C, Wardrop L, O'Shea R, Wood A, Mallawaarachchi A, Patel C, Stark Z, Mallett AJ. Soraru J, et al. Among authors: patel c. Front Med (Lausanne). 2022 May 26;9:891223. doi: 10.3389/fmed.2022.891223. eCollection 2022. Front Med (Lausanne). 2022. PMID: 35721054 Free PMC article.
2,392 results