Research output per year
Research output per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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Dive into the research topics where Sarah Beecroft is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
OPDM study group, Cortese, A., Cabrera-Serrano, M., Folland, C., Monahan, G., Scriba, C. K., Dofash, L., Johari, M., Mastaglia, F., Laing, N. G. & Ravenscroft, G., 27 Jul 2024, In: Nature Communications. 15, 15 p., 6327.Research output: Contribution to journal › Article › peer-review
Open Access -
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
RFC1 Repeat Expansion Study Group & Ravenscroft, G., May 2024, In: Brain. 147, 5, p. 1887-1898 12 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Citations (Scopus) -
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
Sullivan, P. J., Gayevskiy, V., Davis, R. L., Wong, M., Mayoh, C., Mallawaarachchi, A., Hort, Y., McCabe, M. J., Beecroft, S., Jackson, M. R., Arts, P., Dubowsky, A., Laing, N., Dinger, M. E., Scott, H. S., Oates, E., Pinese, M. & Cowley, M. J., Dec 2023, In: Genome Biology. 24, 1, 118.Research output: Contribution to journal › Article › peer-review
Open Access6 Citations (Scopus) -
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
Weihl, C. C., Topf, A., Bengoechea, R., Duff, J., Charlton, R., Garcia, S. K., Dominguez-Gonzalez, C., Alsaman, A., Hernandez-Lain, A., Franco, L. V., Ponce Sanchez, M. E., Beecroft, S. J., Goullee, H., Daw, J., Bhadra, A., True, H., Inoue, M., Findlay, A. R., Laing, N., Olive, M., & 2 others, Jan 2023, In: Acta Neuropathologica. 145, 1, p. 127-143 17 p.Research output: Contribution to journal › Article › peer-review
Open Access9 Citations (Scopus) -
Repeat expansions in the 5 ' UTR of ABCD3 cause oculo-pharyngo-distal myopathy with possible sex-biased penetrance
Cortese, A., Beecroft, S., Cabrera-Serrano, M., Curro, R., Facchini, S., Stevanovski, I., Chintalaphani, S., Delatycki, M., Storey, E., Stojkovic, T., Houlden, H., Kennerson, M., McLean, C., Deveson, A., Laing, N., Lamont, P., Lockhart, P., Fahey, M., Bugiardini, E. & Ravenscroft, G., Oct 2022, In: Neuromuscular Disorders. 32, 1 p.Research output: Contribution to journal › Abstract/Meeting Abstract › peer-review
Datasets
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Additional file 1 of Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
Sullivan, P. J. (Creator), Gayevskiy, V. (Creator), Davis, R. L. (Creator), Wong, M. (Creator), Mayoh, C. (Creator), Mallawaarachchi, A. (Creator), Hort, Y. (Creator), McCabe, M. J. (Creator), Beecroft, S. (Creator), Jackson, M. R. (Creator), Arts, P. (Creator), Dubowsky, A. (Creator), Laing, N. (Creator), Dinger, M. E. (Creator), Scott, H. S. (Creator), Oates, E. (Creator), Pinese, M. (Creator) & Cowley, M. J. (Creator), Figshare, 17 May 2023
DOI: 10.6084/m9.figshare.22914479.v1, https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Introme_accurately_predicts_the_impact_of_coding_and_noncoding_variants_on_gene_splicing_with_clinical_applications/22914479/1
Dataset
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Additional file 1 of Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
Sullivan, P. J. (Creator), Gayevskiy, V. (Creator), Davis, R. L. (Creator), Wong, M. (Creator), Mayoh, C. (Creator), Mallawaarachchi, A. (Creator), Hort, Y. (Creator), McCabe, M. J. (Creator), Beecroft, S. (Creator), Jackson, M. R. (Creator), Arts, P. (Creator), Dubowsky, A. (Creator), Laing, N. (Creator), Dinger, M. E. (Creator), Scott, H. S. (Creator), Oates, E. (Creator), Pinese, M. (Creator) & Cowley, M. J. (Creator), Figshare, 17 May 2023
DOI: 10.6084/m9.figshare.22914479, https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Introme_accurately_predicts_the_impact_of_coding_and_noncoding_variants_on_gene_splicing_with_clinical_applications/22914479
Dataset
Projects
- 1 Active
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Closing the gap in diagnosis of neurological disorders including ataxias and neuropathies – a trans-Australia collaboration.
Laing, N., Lamont, P., Ravenscroft, G., Beecroft, S. & Ly, T.
Medical Research Future Fund MRFF
1/06/21 → 31/05/25
Project: Research