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Page 1
Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated Variants.
Ma JG, O'Neill MJ, Richardson E, Thomson KL, Ingles J, Muhammad A, Solus JF, Davogustto G, Anderson KC, Shoemaker MB, Stergachis AB, Floyd BJ, Dunn K, Parikh VN, Chubb H, Perrin MJ, Roden DM, Vandenberg JI, Ng CA, Glazer AM. Ma JG, et al. Among authors: perrin mj. Circ Genom Precis Med. 2024 Aug;17(4):e004569. doi: 10.1161/CIRCGEN.124.004569. Epub 2024 Jul 2. Circ Genom Precis Med. 2024. PMID: 38953211 Free article.
Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.
Ma JG, O'Neill MJ, Richardson E, Thomson KL, Ingles J, Muhammad A, Solus JF, Davogustto G, Anderson KC, Benjamin Shoemaker M, Stergachis AB, Floyd BJ, Dunn K, Parikh VN, Chubb H, Perrin MJ, Roden DM, Vandenberg JI, Ng CA, Glazer AM. Ma JG, et al. Among authors: perrin mj. medRxiv [Preprint]. 2023 Dec 20:2023.12.19.23299592. doi: 10.1101/2023.12.19.23299592. medRxiv. 2023. Update in: Circ Genom Precis Med. 2024 Aug;17(4):e004569. doi: 10.1161/CIRCGEN.124.004569 PMID: 38196587 Free PMC article. Updated. Preprint.
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.
Evaluation of genes encoding for the transient outward current (Ito) identifies the KCND2 gene as a cause of J-wave syndrome associated with sudden cardiac death.
Perrin MJ, Adler A, Green S, Al-Zoughool F, Doroshenko P, Orr N, Uppal S, Healey JS, Birnie D, Sanatani S, Gardner M, Champagne J, Simpson C, Ahmad K, van den Berg MP, Chauhan V, Backx PH, van Tintelen JP, Krahn AD, Gollob MH. Perrin MJ, et al. Circ Cardiovasc Genet. 2014 Dec;7(6):782-9. doi: 10.1161/CIRCGENETICS.114.000623. Epub 2014 Sep 11. Circ Cardiovasc Genet. 2014. PMID: 25214526
Kinetics of drug interaction with the Kv11.1 potassium channel.
Hill AP, Perrin MJ, Heide J, Campbell TJ, Mann SA, Vandenberg JI. Hill AP, et al. Among authors: perrin mj. Mol Pharmacol. 2014 May;85(5):769-76. doi: 10.1124/mol.114.091835. Epub 2014 Feb 28. Mol Pharmacol. 2014. PMID: 24586056
Genetics of cardiac electrical disease.
Perrin MJ, Gollob MH. Perrin MJ, et al. Can J Cardiol. 2013 Jan;29(1):89-99. doi: 10.1016/j.cjca.2012.07.847. Epub 2012 Oct 11. Can J Cardiol. 2013. PMID: 23062665 Review.
hERG K(+) channels: structure, function, and clinical significance.
Vandenberg JI, Perry MD, Perrin MJ, Mann SA, Ke Y, Hill AP. Vandenberg JI, et al. Among authors: perrin mj. Physiol Rev. 2012 Jul;92(3):1393-478. doi: 10.1152/physrev.00036.2011. Physiol Rev. 2012. PMID: 22988594 Free article. Review.
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