Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, et al.
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Nature Communications
11(1)
:
5398
2023
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Jolly, LA, Parnell, E, Gardner, AE, Corbett, MA, Pérez-Jurado, LA, Shaw, M, Lesca, G, Keegan, C, Schneider, MC, Griffin, E, et al.
Missense variant contribution to USP9X-female syndrome.
npj Genomic Medicine
5(1)
:
53
2023
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Rafehi, H, Szmulewicz, DJ, Pope, K, Wallis, M, Christodoulou, J, White, SM, Delatycki, MB, Lockhart, PJ, Bahlo, M.
Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing data.
851675
2023
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Rafehi, H, Szmulewicz, DJ, Bennett, MF, Sobreira, NL, Pope, K, Smith, KR, Gillies, G, Diakumis, P, Dolzhenko, E, Eberle, MA, et al.
Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS.
2023
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Ward, PGD, Harding, IH, Close, TG, Corben, LA, Delatycki, MB, Storey, E, Georgiou-Karistianis, N, Egan, GF.
Longitudinal dentate nuclei iron concentration and atrophy in Friedreich ataxia: IMAGE-FRDA.
2023
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