photo of Elle Martin

Elle Martin

Elle Martin

Details

Role Project Officer
Research area Genomic Medicine

Top Publications

  • Santos Gonzalez, F, Martin, E, Harris, M, Casauria, S, Udn-Aus, TAUDN, Christodoulou, J, Goranitis, I. The value of functional genomics: a contingent valuation.. Expert Rev Pharmacoecon Outcomes Res 26(2) : 195 -202 2026
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  • Chang, Y, Rath, EM, Soka, M, Singer, ES, Trivedi, G, Burns, C, Austin, R, Boughtwood, T, Brown, JS, Casauria, S, et al. Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.. Genet Med 28(1) : 101626 2026
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  • Rius, R, Compton, AG, Baker, NL, Balasubramaniam, S, Best, S, Bhattacharya, K, Boggs, K, Boughtwood, T, Braithwaite, J, Bratkovic, D, et al. The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.. Genet Med 27(1) : 101271 2025
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  • Austin, R, Brown, JS, Casauria, S, Madelli, EO, Mattiske, T, Boughtwood, T, Metke, A, Davis, A, Horton, AE, Winlaw, D, et al. A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.. Genet Med Open 2: 101842 2024
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  • Wong, W-K, Troedson, C, Dale, RC, Roscioli, T, Field, M, Palmer, E, Martin, EM, Kumar, KR, Mohammad, SS. Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2.. Mov Disord Clin Pract 9(Suppl 2) : S32 -S35 2022
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