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A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R, Brown JS, Casauria S, Madelli EO, Mattiske T, Boughtwood T, Metke A, Davis A, Horton AE, Winlaw D, Das D, Soka M, Giannoulatou E, Rath EM, Haan E, Blue GM, Vohra J, Atherton JJ, van Spaendonck-Zwarts K, Cox K, Burnett L, Wallis M, Haas M, Quinn MCJ, Pachter N, Poplawski NK, Stark Z, Bagnall RD, Weintraub RG, Pantaleo SJ, Lunke S, De Fazio P, Thompson T, James P, Chang Y, Fatkin D, Macciocca I, Ingles J, Dunwoodie SL, Semsarian C, McGaughran J; Australian Genomics Cardiovascular Disorders Flagship. Austin R, et al. Genet Med Open. 2024 Mar 25;2:101842. doi: 10.1016/j.gimo.2024.101842. eCollection 2024. Genet Med Open. 2024. PMID: 39669597 Free PMC article.
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.
Jayasinghe K, Biros E, Harris T, Wood A, O'Shea R, Hill L, Fowles L, Wardrop L, Shalhoub C, Hahn D, Rangan G, Kevin L, Tchan M, Snelling P, Sandow R, Sundaram M, Chaturvedi S, Trnka P, Faull R, Poplawski NK, Huntley V, Garza D, Wallis M, Jose M, Leaver A, Trainer AH, Wilkins EJ, White S, Elbaum Y, Prawer Y, Krzesinski E, Valente G, Winship I, Ryan J, Whitlam J, Nicholls K, West K, Donaldson L, Johnstone L, Lewit-Mendes M, Kerr PG, Bodek S, Chakera A, MacShane M, Mincham C, Stackpoole E, Willis F, Soraru J, Pachter N, Bennetts B, Forbes TA, Mallawaarachchi A, Quinlan C, Patel C, McCarthy H, Goranitis I, Best S, Alexander S, Stark Z, Mallett AJ. Jayasinghe K, et al. Among authors: mallawaarachchi a. Kidney Int Rep. 2024 May 9;9(8):2372-2385. doi: 10.1016/j.ekir.2024.04.068. eCollection 2024 Aug. Kidney Int Rep. 2024. PMID: 39156154 Free PMC article.
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023.
Mallawaarachchi A, Biros E, Harris T, Bennetts B, Boughtwood T, Elliott J, Fowles L, Gardos R, Garza D, Goranitis I, Haas M, Huntley V, Jefferis J, Kassahn K, Leaver A, Lundie B, Lunke S, O'Connor C, Pratt G, Quinlan C, Shearman D, Soraru J, Sundaram M, Tchan M, Valente G, White J, Wilkins E, Alexander SI, Amir N, Best S, Gul H, Jayasinghe K, McCarthy H, Patel C, Stark Z, Mallett AJ. Mallawaarachchi A, et al. Hum Genomics. 2024 Aug 17;18(1):88. doi: 10.1186/s40246-024-00656-y. Hum Genomics. 2024. PMID: 39154021 Free PMC article.
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study.
Mallawaarachchi AC, Fowles L, Wardrop L, Wood A, O'Shea R, Biros E, Harris T, Alexander SI, Bodek S, Boudville N, Burke J, Burnett L, Casauria S, Chadban S, Chakera A, Crafter S, Dai P, De Fazio P, Faull R, Honda A, Huntley V, Jahan S, Jayasinghe K, Jose M, Leaver A, MacShane M, Madelli EO, Nicholls K, Pawlowski R, Rangan G, Snelling P, Soraru J, Sundaram M, Tchan M, Valente G, Wallis M, Wedd L, Welland M, Whitlam J, Wilkins EJ, McCarthy H, Simons C, Quinlan C, Patel C, Stark Z, Mallett AJ. Mallawaarachchi AC, et al. Clin J Am Soc Nephrol. 2024 Jul 1;19(7):887-897. doi: 10.2215/CJN.0000000000000464. Epub 2024 May 3. Clin J Am Soc Nephrol. 2024. PMID: 38861662
Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature.
Zhen XM, Twigg SM, Wu T, Tabet E, McGill MJ, Constantino M, Mallawaarachchi A, Luo C, Thillainadesan S, Rahman Y, Wong J. Zhen XM, et al. Among authors: mallawaarachchi a. Clin Diabetes Endocrinol. 2024 Jun 10;10(1):17. doi: 10.1186/s40842-024-00174-9. Clin Diabetes Endocrinol. 2024. PMID: 38853254 Free PMC article. Review.
Beyond DNA sequencing: genetic kidney disorders related to altered splicing.
McCarthy HJ, Mallett AJ, Sullivan P, Cowley MJ, Mallawaarachchi AC. McCarthy HJ, et al. Among authors: mallawaarachchi ac. Nephrol Dial Transplant. 2024 Jun 28;39(7):1056-1059. doi: 10.1093/ndt/gfae022. Nephrol Dial Transplant. 2024. PMID: 38289833 No abstract available.
Response to Lombardi and Mesnard.
Wu Y, Jayasinghe K, Stark Z, Quinlan C, Patel C, McCarthy H, Mallawaarachchi AC, Kerr PG, Alexander SI, Mallett AJ, Goranitis I; KidGen Collaborative investigators. Wu Y, et al. Among authors: mallawaarachchi ac. Genet Med. 2024 Jan;26(1):100989. doi: 10.1016/j.gim.2023.100989. Epub 2023 Sep 28. Genet Med. 2024. PMID: 37777873 No abstract available.
Safeguarding community-centred global health research during crises.
Agampodi T, Nuwangi H, Gunasekara S, Mallawaarachchi A, Price HP, Dikomitis L, Agampodi S. Agampodi T, et al. Among authors: mallawaarachchi a. BMJ Glob Health. 2023 Aug;8(8):e013304. doi: 10.1136/bmjgh-2023-013304. BMJ Glob Health. 2023. PMID: 37532463 Free PMC article. No abstract available.
41 results