By Dr Kathy Hui-Ching Wu

Preprints

Rafehi H; Fearnley LG; Read J; Snell P; Davies KC; Scott L; Gillies G; Thompson GC; Field TA; Eldo A; Bodek S; Butler E; Chen L; Drago J; Goel H; Hackett A; Halmagyi GM; Hannaford A; Kotschet K; Kumar KR; Kumble S; Lee-Archer M; Malhotra A; Paine M; Poon M; Pope K; Reardon K; Ring S; Ronan A; Silsby M; Smyth R; Stutterd C; Wallis M; Waterston J; Wellings T; West K; Wools C; Wu KHC; Szmulewicz DJ; Delatycki MB; Bahlo M; Lockhart PJ, 2024, Bridging the gap: a prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia, http://dx.doi.org/10.1101/2024.07.08.24309939

Rafehi H; Read J; Szmulewicz D; Davies K; Snell P; Fearnley L; Scott L; Thomsen M; Gillies G; Pope K; Bennett M; Munro J; Ngo K; Chen L; Wallis M; Butler E; Kumar K; Wu KHC; Tomlinson S; Tisch S; Malhotra A; Lee-Archer M; Dolzhenko E; Eberle M; Roberts L; Fogel B; Brüggemann N; Lohmann K; Delatycki M; Bahlo M; Lockhart P, 2022, A novel intronic GAA repeat expansion inFGF14causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14), http://dx.doi.org/10.1101/2022.10.21.22281020

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