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Collaborations and top research areas from the last five years
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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 Access18 Link opens in a new tab Citations (Web of Science) -
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 Access25 Link opens in a new tab Citations (Web of Science) -
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 Access15 Link opens in a new tab Citations (Web of Science) -
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 Access26 Link opens in a new tab 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, 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
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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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STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci
Dashnow, H. (Contributor), Pedersen, B. S. (Contributor), Hiatt, L. (Contributor), Brown, J. (Contributor), Beecroft, S. J. (Contributor), Ravenscroft, G. (Contributor), LaCroix, A. J. (Contributor), Lamont, P. (Contributor), Roxburgh, R. H. (Contributor), Rodrigues, M. J. (Contributor), Davis, M. (Contributor), Mefford, H. C. (Contributor), Laing, N. G. (Contributor) & Quinlan, A. R. (Contributor), Figshare, 13 Aug 2024
DOI: 10.6084/m9.figshare.c.6575329
Dataset
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Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
Sullivan, P. J. (Contributor), Gayevskiy, V. (Contributor), Davis, R. L. (Contributor), Wong, M. (Contributor), Mayoh, C. (Contributor), Mallawaarachchi, A. (Contributor), Hort, Y. (Contributor), McCabe, M. J. (Contributor), Beecroft, S. (Contributor), Jackson, M. R. (Contributor), Arts, P. (Contributor), Dubowsky, A. (Contributor), Laing, N. (Contributor), Dinger, M. E. (Contributor), Scott, H. S. (Contributor), Oates, E. (Contributor), Pinese, M. (Contributor) & Cowley, M. J. (Contributor), Figshare, 18 May 2023
DOI: 10.6084/m9.figshare.c.6652181
Dataset
Projects
- 1 Finished
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Closing the gap in diagnosis of neurological disorders including ataxias and neuropathies – a trans-Australia collaboration.
Laing, N. (Investigator 01), Lamont, P. (Investigator 02), Ravenscroft, G. (Investigator 03), Beecroft, S. (Investigator 04) & Ly, T. (Investigator 05)
MRFF Medical Research Future Fund
1/06/21 → 31/05/25
Project: Research
Activities
- 2 Contribution or participation in a conference
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RNA-Seq Workshop, COMBINE
Lim, S. C. (Chair) & Beecroft, S. (Chair)
22 Feb 2018Activity: Conferences and workshops › Contribution or participation in a conference
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Bioinformatics Workshop: GVL and Microbial Genomics
Lim, S. C. (Chair) & Beecroft, S. (Chair)
22 Nov 2016 → 23 Nov 2016Activity: Conferences and workshops › Contribution or participation in a conference