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The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic.
Stafford F, Krishnan N, Richardson E, Butters A, Hespe S, Burns C, Gray B, Medi C, Nowak N, Isbister JC, Raju H, Richmond D, Ryan MP, Singer ES, Sy RW, Yeates L, Bagnall RD, Semsarian C, Ingles J. Stafford F, et al. Genome Med. 2022 Dec 28;14(1):145. doi: 10.1186/s13073-022-01149-0. Genome Med. 2022. PMID: 36578016 Free PMC article.
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Ricos MG, Hodgson BL, Pippucci T, Saidin A, Ong YS, Heron SE, Licchetta L, Bisulli F, Bayly MA, Hughes J, Baldassari S, Palombo F; Epilepsy Electroclinical Study Group; Santucci M, Meletti S, Berkovic SF, Rubboli G, Thomas PQ, Scheffer IE, Tinuper P, Geoghegan J, Schreiber AW, Dibbens LM. Ricos MG, et al. Ann Neurol. 2016 Jan;79(1):120-31. doi: 10.1002/ana.24547. Epub 2015 Dec 12. Ann Neurol. 2016. PMID: 26505888
The New South Wales Sudden Cardiac Arrest Registry: A Data Linkage Cohort Study.
Leslie F, Avis SR, Bagnall RD, Bendall J, Briffa T, Brouwer I, Butters A, Figtree GA, La Gerche A, Gray B, Nedkoff L, Page G, Paratz E, Semsarian C, Sy RW, du Toit-Prinsloo L, Yeates L, Sweeting J, Ingles J. Leslie F, et al. Among authors: bagnall rd. Heart Lung Circ. 2023 Sep;32(9):1069-1075. doi: 10.1016/j.hlc.2023.06.573. Epub 2023 Jul 5. Heart Lung Circ. 2023. PMID: 37419791
Cranio-maxillary fixation using supra-orbital pins.
Wallace J, Bagnall RD. Wallace J, et al. Among authors: bagnall rd. Int J Oral Maxillofac Surg. 1986 Feb;15(1):8-11. doi: 10.1016/s0300-9785(86)80004-7. Int J Oral Maxillofac Surg. 1986. PMID: 3083008
Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variant.
Li S, Fraser S, Ranpura G, Lim S, Singer ES, Parker JDK, Crowe J, Bagnall RD, Laksman Z, Semsarian C. Li S, et al. Stem Cell Res. 2023 Sep;71:103153. doi: 10.1016/j.scr.2023.103153. Epub 2023 Jun 23. Stem Cell Res. 2023. PMID: 37385135 Free article.
129 results