Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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McCabe, MJ, Gauthier, M-EA, Chan, C-L, Thompson, TJ, De Sousa, SMC, Puttick, C, Grady, JP, Gayevskiy, V, Tao, J, Ying, K, et al.
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
Scientific Reports
9(1)
:
17052
2023
view publication
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Li, A, Geyer, FC, Blecua, P, Lee, JY, Selenica, P, Brown, DN, Pareja, F, Lee, SSK, Kumar, R, Rivera, B, et al.
Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers.
npj Breast Cancer
5(1)
:
44
2023
view publication
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Figlioli, G, Bogliolo, M, Catucci, I, Caleca, L, Lasheras, SV, Pujol, R, Kiiski, JI, Muranen, TA, Barnes, DR, Dennis, J, et al.
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
npj Breast Cancer
5(1)
:
38
2023
view publication
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Li, A, Geyer, FC, Blecua, P, Lee, JY, Selenica, P, Brown, DN, Pareja, F, Lee, SSK, Kumar, R, Rivera, B, et al.
Homologous recombination DNA repair defects in PALB2-associated breast cancers.
npj Breast Cancer
5(1)
:
23
2023
view publication
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Rezende, TJ, Adanyeguh, IM, Arrigoni, F, Bender, B, Cendes, F, Corben, LA, Deistung, A, Delatycki, M, Dogan, I, Egan, GF, et al.
Spinal cord damage in Friedreich’s ataxia: Results from the ENIGMA-Ataxia.
2023
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