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Design and evaluation of a visual genomic explainer: a mixed-methods study.
Butler G, Andersen C, Buttery J, Gupta A, Martyn MM, Stark Z, Wilkins E, Jayasinghe K, Quinlan C. Butler G, et al. Among authors: martyn mm. Arch Dis Child. 2024 Oct 23:archdischild-2024-327650. doi: 10.1136/archdischild-2024-327650. Online ahead of print. Arch Dis Child. 2024. PMID: 39442982
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. BMJ Open. 2019 Aug 5;9(8):e029541. doi: 10.1136/bmjopen-2019-029541. BMJ Open. 2019. PMID: 31383705 Free PMC article.
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. 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.
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.
Bouffler SE, Lee L, Lynch F, Martyn M, Lynch E, Macciocca I, Curnow L, McCorkell G, Lunke S, Chong B, Marum JE, Delatycki M, Downie L, Goranitis I, Vears DF, Best S, Clausen M, Bombard Y, Stark Z, Gaff CL. Bouffler SE, et al. BMJ Open. 2023 Jun 2;13(6):e072999. doi: 10.1136/bmjopen-2023-072999. BMJ Open. 2023. PMID: 37270192 Free PMC article.
55 results