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Biography
Sandrine is a Postdoctoral Researcher with the Genetics and Genomics Team in the Centre of Motor Neuron Disease (MND) Research at Macquarie University.
In 2016, Sandrine successfully completed a Bachelor of Commerce (Economics) and Psychology. In 2017, she completed a Master of Research and in May 2023, her PhD degree with the Genetics and Genomics Team. During her Masters and PhD degree, Sandrine developed bioinformatics pipelines and techniques to facilitate the analysis of next-generation sequencing datasets for gene discovery in MND. This led to the identification of several causal mutations and risk variants for MND, both in sporadic and familial MND patients.
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Projects
- 1 Active
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FightMND IMPACT: Delving deep into the ALS genome to reveal somatic mosaicism
Henden, L., Williams, K., Blair, I., Smith, A. & Chan Moi Fat, S. K. K.
1/02/24 → 31/01/26
Project: Research
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Characterising the genetic landscape of amyotrophic lateral sclerosis: a catalogue and assessment of over 1,000 published genetic variants
McCann, E. P., Grima, N., Fifita, J. A., Chan Moi Fat, S., Lehnert, K., Henden, L., Blair, I. P. & Williams, K. L., 7 Nov 2023, In: Journal of Neuromuscular Diseases. 10, 6, p. 1127-1141 15 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile3 Citations (Scopus)67 Downloads (Pure) -
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia
Henden, L., Fearnley, L. G., Grima, N., McCann, E. P., Dobson-Stone, C., Fitzpatrick, L., Friend, K., Hobson, L., Chan Moi Fat, S., Rowe, D. B., D'Silva, S., Kwok, J. B., Halliday, G. M., Kiernan, M. C., Mazumder, S., Timmins, H. C., Zoing, M., Pamphlett, R., Adams, L., Bahlo, M., & 2 others, 5 May 2023, In: Science Advances. 9, 18, p. 1-15 16 p., eade2044.Research output: Contribution to journal › Article › peer-review
Open AccessFile16 Citations (Scopus)83 Downloads (Pure) -
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 Access53 Citations (Scopus) -
Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis
Chan Moi Fat, S., McCann, E. P., Williams, K. L., Henden, L., Twine, N. A., Bauer, D. C., Pamphlett, R., Kiernan, M. C., Rowe, D. B., Nicholson, G. A., Fifita, J. A. & Blair, I. P., May 2021, In: Neurobiology of Aging. 101, p. 297.e11-297.e13 3 p.Research output: Contribution to journal › Article › peer-review
10 Citations (Scopus) -
Genetic analysis of tryptophan metabolism genes in sporadic amyotrophic lateral sclerosis
Fifita, J. A., Chan Moi Fat, S., McCann, E. P., Williams, K. L., Twine, N. A., Bauer, D. C., Rowe, D. B., Pamphlett, R., Kiernan, M. C., Tan, V. X., Blair, I. P. & Guillemin, G. J., 14 Jun 2021, In: Frontiers in Immunology. 12, p. 1-8 8 p., 701550.Research output: Contribution to journal › Article › peer-review
Open AccessFile10 Citations (Scopus)241 Downloads (Pure)