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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2008 1
2016 1
2017 2
2018 4
2019 6
2020 4
2021 4
2022 1
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20 results
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Page 1
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi A, Vogt J, de Munnik SA, Dreyer L, Baynam G, Ewans L, Stark Z, Lunke S, Gonçalves AR, Soares G, Oliveira J, Fassi E, Willing M, Waugh JL, Faivre L, Riviere JB, Moutton S, Mohammed S, Payne K, Walsh L, Begtrup A, Guillen Sacoto MJ, Douglas G, Alexander N, Buckley MF, Mark PR, Adès LC, Sandaradura SA, Lupski JR, Roscioli T, Agrawal PB, Kline AD; Deciphering Developmental Disorders Study, Wang K, Timmers HTM, Lyon GJ. Cheng H, et al. Among authors: mallawaarachchi a. Hum Mutat. 2019 Oct 23:10.1002/humu.23936. doi: 10.1002/humu.23936. Online ahead of print. Hum Mutat. 2019. PMID: 31646703 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. 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.
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease.
Huynh VT, Audrézet MP, Sayer JA, Ong AC, Lefevre S, Le Brun V, Després A, Senum SR, Chebib FT, Barroso-Gil M, Patel C, Mallett AJ, Goel H, Mallawaarachchi AC, Van Eerde AM, Ponlot E, Kribs M; Genkyst Study Group, Genomics England Research Consortium, Le Meur Y, Harris PC, Cornec-Le Gall E. Huynh VT, et al. Among authors: mallawaarachchi ac. Kidney Int. 2020 Aug;98(2):476-487. doi: 10.1016/j.kint.2020.02.022. Epub 2020 Mar 23. Kidney Int. 2020. PMID: 32631624
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: mallawaarachchi a. 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.
A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder.
Jones LK, Lam R, McKee KK, Aleksandrova M, Dowling J, Alexander SI, Mallawaarachchi A, Cottle DL, Short KM, Pais L, Miner JH, Mallett AJ, Simons C, McCarthy H, Yurchenco PD, Smyth IM. Jones LK, et al. Among authors: mallawaarachchi a. Development. 2020 Jun 22;147(21):dev189183. doi: 10.1242/dev.189183. Development. 2020. PMID: 32439764 Free PMC article.
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: mallawaarachchi a. 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.
Fatal cerebellar oedema in adult Leigh syndrome.
Edwards LS, Halmagyi GM, Mallawaarachchi A, Thompson EO, Kiernan MC. Edwards LS, et al. Among authors: mallawaarachchi a. Pract Neurol. 2020 Aug;20(4):336-337. doi: 10.1136/practneurol-2019-002409. Epub 2020 Jul 17. Pract Neurol. 2020. PMID: 32680832 No abstract available.
Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol.
Jayasinghe K, Stark Z, Patel C, Mallawaarachchi A, McCarthy H, Faull R, Chakera A, Sundaram M, Jose M, Kerr P, Wu Y, Wardrop L, Goranitis I, Best S, Martyn M, Quinlan C, Mallett AJ. Jayasinghe K, et al. Among authors: mallawaarachchi a. BMJ Open. 2019 Aug 5;9(8):e029541. doi: 10.1136/bmjopen-2019-029541. BMJ Open. 2019. PMID: 31383705 Free PMC article.
20 results