Dr Katrina Bell
Dr Katrina Bell
Details
Role
Interpretation Lead (Bioinformatics)
Research area
Genomic Medicine
Group
Bioinformatics
Katrina's background encompasses training in developmental and molecular biology, which provided a strong foundation in rare disease research before my transition into the field of bioinformatics.
This initial grounding gave her the knowledge to understand challenges from both the biological and developmental perspectives of rare disease research, as well as a solid understanding of sample processing, molecular biology and the downstream bioinformatics implications.
She collaborates closely with experts across MCRI, with a primary focus on complex analysis to find a diagnosis. She applies her skills toward improving bioinformatics pipelines to increase diagnostic rates across all rare diseases.
This initial grounding gave her the knowledge to understand challenges from both the biological and developmental perspectives of rare disease research, as well as a solid understanding of sample processing, molecular biology and the downstream bioinformatics implications.
She collaborates closely with experts across MCRI, with a primary focus on complex analysis to find a diagnosis. She applies her skills toward improving bioinformatics pipelines to increase diagnostic rates across all rare diseases.
Katrina's background encompasses training in developmental and molecular biology, which provided a strong foundation in rare disease research before my transition into the field of bioinformatics.
This initial grounding gave her the knowledge to...
This initial grounding gave her the knowledge to...
Katrina's background encompasses training in developmental and molecular biology, which provided a strong foundation in rare disease research before my transition into the field of bioinformatics.
This initial grounding gave her the knowledge to understand challenges from both the biological and developmental perspectives of rare disease research, as well as a solid understanding of sample processing, molecular biology and the downstream bioinformatics implications.
She collaborates closely with experts across MCRI, with a primary focus on complex analysis to find a diagnosis. She applies her skills toward improving bioinformatics pipelines to increase diagnostic rates across all rare diseases.
This initial grounding gave her the knowledge to understand challenges from both the biological and developmental perspectives of rare disease research, as well as a solid understanding of sample processing, molecular biology and the downstream bioinformatics implications.
She collaborates closely with experts across MCRI, with a primary focus on complex analysis to find a diagnosis. She applies her skills toward improving bioinformatics pipelines to increase diagnostic rates across all rare diseases.
Top Publications
- Zhao, T, Fennell, AP, Sharma, T, Bell, KM, Dunstan, M, Lunke, S, McGrath, MJ, McLean, C, Undiagnosed Diseases Network (UDN‐Aus), Thorburn, DR, et al. Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics.. Am J Med Genet A 2026 view publication
- Tan, NB, Gautschi, M, Raum, M, Hock, DH, Kopajtich, R, Wang, J, Qian, X, Sharma, T, Green, TE, Nuoffer, J-M, et al. Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.. Am J Hum Genet 113(5) : 1108 -1121 2026 view publication
- Kline, BL, Moran, IL, Cai, X, Siddall, NA, Wijaya, F, Dulon, J, Bakhshalizadeh, S, Bell, KM, Jaillard, S, Robevska, G, et al. RNA exosome component EXOSC10 variants identified in a patient with premature ovarian insufficiency†.. Biol Reprod 114(4) : 1416 -1428 2026 view publication
- Atlas, G, Bell, KM, Robevska, G, van den Bergen, J, Hadiprajitno, PI, Listyasari, N, Santosa, A, Juniarto, AZ, Francis, DI, O Apos Connell, MA, et al. WT1 Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.. Sex Dev 1 -12 2026 view publication
- Nguyen, JNH, Lachgar-Ruiz, M, Higginbotham, EJ, Coleman, M, Coleman, J, Shao, W, Scotchman, E, Pritchard, AJ, Bell, KM, Chitty, LS, et al. Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.. Neurology 106(6) : e214645 2026 view publication
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