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Scarff, KL, Flowers, N, Love, CJ, Archibald, AD, Hunt, CE, Giouzeppos, O, Elliott, J, Delatycki, MB, Pertile, MD.
Performance of a cell‐free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low‐risk cell‐free DNA screening.
Prenatal Diagnosis
43(2)
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213 -225
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)
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122 -124
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)
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2023
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Freeman, L, Delatycki, MB, Scully, JL, Kirk, EP.
Response to Li and Sun.
Genetics in Medicine
25(1)
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Rafehi, H, Read, J, Szmulewicz, DJ, Davies, KC, Snell, P, Fearnley, LG, Scott, L, Thomsen, M, Gillies, G, Pope, K, et al.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
American Journal of Human Genetics
110(1)
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