Dr Katrina Bell
Dr Katrina Bell
Details
Role
Interpretation Lead (Bioinformatics)
Group
Bioinformatics
Top Publications
- 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 view publication
- 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 view publication
- 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 view publication
- 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 view publication
- Kung, LHW, Ravi, V, Rowley, L, Angelucci, C, Fosang, AJ, Bell, KM, Little, CB, Bateman, JF. Cartilage microRNA dysregulation in mouse osteoarthritis overlaps with patient disease candidates. 2024 view publication
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