Dr Katrina Bell

Details

Role Interpretation Lead (Bioinformatics)

Group Bioinformatics

Kline, BL, Siddall, NA, Wijaya, F, Stuart, CJ, Orlando, L, Bakhshalizadeh, S, Afkhami, F, Bell, KM, Jaillard, S, Robevska, G, et al. Functional characterisation of human recessive DIS3 variants in premature ovarian insufficiency.. Biol Reprod 2024
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Tucker, EJ, Sharp, MF, Lokchine, A, Bell, KM, Palmer, CS, Kline, BL, Robevska, G, van den Bergen, J, Dulon, J, Stojanovski, D, et al. Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.. Clin Genet 106(3) : 321 -335 2024
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Bakhshalizadeh, S, Afkhami, F, Bell, KM, Robevska, G, van den Bergen, J, Cronin, S, Jaillard, S, Ayers, KL, Kumar, P, Siebold, C, et al. Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis.. Mol Cell Endocrinol 587: 112212 2024
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Bakhshalizadeh, S, Bird, AD, Sreenivasan, R, Bell, KM, Robevska, G, van den Bergen, J, Asghari-Jafarabadi, M, Kueh, AJ, Touraine, P, Lokchine, A, et al. A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.. Genes (Basel) 15(3) : 2024
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Dashnow, H, Bell, KM, Stark, Z, Tan, TY, White, SM, Oshlack, A. Pooled-parent exome sequencing to prioritise de novo variants in genetic disease. 601740 2024
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