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Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Wallis M, Bodek SD, Munro J, Rafehi H, Bennett MF, Ye Z, Schneider A, Gardiner F, Valente G, Murdoch E, Uebergang E, Hunter J, Stutterd C, Huq A, Salmon L, Scheffer I, Eratne D, Meyn S, Fong CY, John T, Mullen S, White SM, Brown NJ, McGillivray G, Chen J, Richmond C, Hughes A, Krzesinski E, Fennell A, Chambers B, Santoreneos R, Le Fevre A, Hildebrand MS, Bahlo M, Christodoulou J, Delatycki M, Berkovic SF. Wallis M, et al. Among authors: salmon l. Orphanet J Rare Dis. 2024 Aug 2;19(1):288. doi: 10.1186/s13023-024-03297-5. Orphanet J Rare Dis. 2024. PMID: 39095811 Free PMC article.
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants.
Murali K, Dwarte TM, Nikfarjam M, Tucker KM, Vaughan RB, Efthymiou M, Collins A, Spigelman AD, Salmon L, Johns AL, Williams DB, Delatycki MB, John T, Stoita A. Murali K, et al. Among authors: salmon l. Hered Cancer Clin Pract. 2021 Aug 16;19(1):33. doi: 10.1186/s13053-021-00190-1. Hered Cancer Clin Pract. 2021. PMID: 34399810 Free PMC article.
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
Tudini E, Davidson AL, Dressel U, Andrews L, Antill Y, Crook A, Field M, Gattas M, Harris R, Kirk J, Pachter N, Salmon L, Susman R, Townshend S, Trainer AH, Tucker KM, Mitchell G, James PA, Ward RL, Mar Fan H, Poplawski NK, Spurdle AB. Tudini E, et al. Among authors: salmon l. J Med Genet. 2021 Dec;58(12):853-858. doi: 10.1136/jmedgenet-2020-107140. Epub 2020 Nov 9. J Med Genet. 2021. PMID: 33168572
Correction to: Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants.
Murali K, Dwarte TM, Nikfarjam M, Tucker KM, Vaughan RB, Efthymiou M, Collins A, Spigelman AD, Salmon L, Johns AL, Williams DB, Delatycki MB, John T, Stoita A. Murali K, et al. Among authors: salmon l. Hered Cancer Clin Pract. 2021 Sep 8;19(1):37. doi: 10.1186/s13053-021-00195-w. Hered Cancer Clin Pract. 2021. PMID: 34496934 Free PMC article. No abstract available.
Communicating polygenic risk scores in the familial breast cancer clinic.
Das Gupta K, Gregory G, Meiser B, Kaur R, Scheepers-Joynt M, McInerny S, Taylor S, Barlow-Stewart K, Antill Y, Salmon L, Smyth C, McInerney-Leo A, Young MA, James PA, Yanes T. Das Gupta K, et al. Among authors: salmon l. Patient Educ Couns. 2021 Oct;104(10):2512-2521. doi: 10.1016/j.pec.2021.02.046. Epub 2021 Mar 1. Patient Educ Couns. 2021. PMID: 33706980
357 results