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Details

Role Clinical Geneticist
Group Clinical Services

Top Publications

  • Freeman, L, Kirk, E, Scully, JL, Delatycki, M. Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening. 2023
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  • Rafehi, H, Green, C, Bozaoglu, K, Gillies, G, Delatycki, MB, Lockhart, PJ, Scheffer, IE, Bahlo, M. Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing. European Journal of Human Genetics 31(1) : 122 -124 2023
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  • Lynch, DR, Goldsberry, A, Rummey, C, Farmer, J, Boesch, S, Delatycki, MB, Giunti, P, Hoyle, JC, Mariotti, C, Mathews, KD, et al. Direct utility of natural history data in analysis of clinical trials: Propensity match-based analysis of Omaveloxolone in Friedreich ataxia using the FA-COMS dataset. 2023
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  • Rodden, LN, Rummey, C, Dong, YN, Lagedrost, S, Regner, S, Brocht, A, Bushara, K, Delatycki, MB, Gomez, CM, Mathews, K, et al. A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia. Frontiers in Molecular Biosciences 9: 933788 2023
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  • Rezende, TJR, Adanyeguh, IM, Arrigoni, F, Bender, B, Cendes, F, Corben, LA, Deistung, A, Delatycki, M, Dogan, I, Egan, GF, et al. Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA‚ÄźAtaxia. Movement Disorders 38(1) : 45 -56 2023
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