Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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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‐Ataxia.
Movement Disorders
38(1)
:
45 -56
2023
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