Research output per year
Research output per year
Personal profile
Biography
Natalie Grima was awarded a Bachelor of Science (Advanced) majoring in Biochemistry and Immunology from The University of Sydney in 2016. She completed her Honours year with the Children's Cancer Research Unit at Westmead Kids Research Institute where she examined how inherited genetic variants may cause cancer predisposition in children. Natalie joined the Macquarie University Centre for Motor Neuron Disease Research in 2018, working as a Research Assistant for The Genetics and Genomics Team led by Prof Ian Blair. In 2021, Natalie commenced her PhD studies with the Genomics and Bioinformatics Team and Genetics and Genomics Team.
Natalie's research is focused on identifying novel genomic and transcriptomic features of sporadic motor neuron disease (MND) using extensive and unique patient cohorts. Natalie is particularly interested in the role of alternative splicing and short tandem repeat expansions in MND pathogenesis.
Education/Academic qualification
Applied Medical Science, BSc (Adv) (Honours I), University of Sydney
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Research Outputs
- 59 Citations
- 6 h-Index
- 12 Article
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ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ
Rayner, S. L., Cheng, F., Hogan, A. L., Grima, N., Yang, S., Ke, Y. D., Au, C. G., Morsch, M., De Luca, A., Davidson, J. M., Molloy, M. P., Shi, B., Ittner, L. M., Blair, I., Chung, R. S. & Lee, A., 1 Jun 2021, In: Human Molecular Genetics. 30, 11, p. 971-984 14 p.Research output: Contribution to journal › Article › peer-review
2 Citations (Scopus) -
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis
McCann, E. P., Henden, L., Fifita, J. A., Zhang, K. Y., Grima, N., Bauer, D. C., Fat, S. C. M., Twine, N. A., Pamphlett, R., Kiernan, M. C., Rowe, D. B., Williams, K. L. & Blair, I. P., 1 Feb 2021, In: Journal of Medical Genetics. 58, 2, p. 87-95 9 p.Research output: Contribution to journal › Article › peer-review
Open Access9 Citations (Scopus) -
Rare germline variants in childhood cancer patients suspected of genetic predisposition to cancer
Sylvester, D. E., Chen, Y., Grima, N., Saletta, F., Padhye, B., Bennetts, B., Wright, D., Krivanek, M., Graf, N., Zhou, L., Catchpoole, D., Kirk, J., Latchoumanin, O., Qiao, L., Ballinger, M., Thomas, D., Jamieson, R., Dalla-Pozza, L. & Byrne, J. A., Feb 2022, In: Genes, Chromosomes and Cancer. 61, 2, p. 81-93 13 p.Research output: Contribution to journal › Article › peer-review
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Simultaneous isolation of high-quality RNA and DNA from postmortem human central nervous system tissues for omics studies
Grima, N., Henden, L., Watson, O., Blair, I. P. & Williams, K. L., 22 Dec 2021, In: Journal of Neuropathology and Experimental Neurology. 11 p.Research output: Contribution to journal › Article › peer-review
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Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis
Hogan, A. L., Grima, N., Fifita, J. A., McCann, E. P., Heng, B., Chan Moi Fat, S., Wu, S., Maharjan, R., Cain, A. K., Henden, L., Rayner, S., Tarr, I., Zhang, K. Y., Zhao, Q., Zhang, ZH., Wright, A., Lee, A., Morsch, M., Yang, S., Williams, K. L. & 1 others, , Dec 2021, In: Neuropathology and Applied Neurobiology. 47, 7, p. 990-1003 14 p.Research output: Contribution to journal › Article › peer-review