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  • Susan Fletcher
2011

Mismatched single stranded antisense oligonucleotides can induce efficient dystrophin splice switching

Fragall, C., Adams, A., Johnsen, R., Kole, R., Fletcher, S. & Wilton, S., 2011, In : BMC Medical Genetics. 12, p. 141

Research output: Contribution to journalArticle

Open Access
6 Citations (Scopus)
2014

Rare Disease Research Roadmap: Navigating the bioinformatics and translational challenges for improved patient health outcomes

Bellgard, M. I., Sleeman, M. W., Guerrero, F. D., Fletcher, S., Baynam, G., Goldblatt, J., Rubinstein, Y. R., Bell, C., Groft, S. C., Barrero, R., Bittles, A. H., Wilton, S., Mason, C. E. & Weeramanthri, T. S., 2014, In : Health Policy And Technology. 3, 4, p. 325-335

Research output: Contribution to journalArticle

7 Citations (Scopus)
2012

Targeted exon skipping to address "leaky" mutations in the dystrophin gene

Fletcher, S., Adkin, C., Meloni, P., Wong, B., Muntoni, F., Kole, R., Fragall, C., Greer, K., Johnsen, R. & Wilton, S., 2012, In : Molecular Therapy-Nucleic Acids. 1, p. e48

Research output: Contribution to journalArticle

Open Access
15 Citations (Scopus)

Multiple exon skipping strategies to by-pass dystrophin mutations

Adkin, C., Meloni, P., Fletcher, S., Adams, A., Muntoni, F., Wong, B. & Wilton, S., 2012, In : Neuromuscular Disorders. 22, 4, p. 297-305

Research output: Contribution to journalArticle

Open Access
12 Citations (Scopus)

Optimizing splice-switching oligomer sequences using 2'-o-methyl phosphorothioate chemistry

Adkin, C., Fletcher, S. & Wilton, S., 2012, Exon Skipping: Methods and Protocols. Aartsma-Rus, A. (ed.). United States: Humana Press, Vol. 867. p. 169-188 (Methods in Molecular Biology).

Research output: Chapter in Book/Conference paperChapter

3 Citations (Scopus)
2013

Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy

Mitrpant, C., Porensky, P. N., Zhou, H., Price, L., Muntoni, F., Fletcher, S., Wilton, S. & Burghes, A. H. M., 2013, In : PLoS One. 8, 4, p. 10pp

Research output: Contribution to journalArticle

Open Access
54 Citations (Scopus)
2018
Open Access

RESCUE OF CFTR FUNCTION IMPAIRED BY MUTATIONS IN EXON 15 IN CHILDREN WITH CYSTIC FIBROSIS

AREST CF & WAERP, Sep 2018, In : Pediatric Pulmonology. 53, p. 224-224 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

13 Citations (Scopus)
2017

Translational development of splice-modifying antisense oligomers

Fletcher, S., Bellgard, M., Price, L., Akkari, A. & Wilton, S., 2 Jan 2017, In : Expert Opinion on Biological Therapy. 17, 1, p. 15-30 16 p.

Research output: Contribution to journalReview article

14 Citations (Scopus)
2018

Precision Medicine through Antisense Oligonucleotide-Mediated Exon Skipping

Li, D., Mastaglia, F. L., Fletcher, S. & Wilton, S. D., 1 Nov 2018, In : Trends in Pharmacological Sciences. 39, 11, p. 982-994 13 p.

Research output: Contribution to journalReview article

11 Citations (Scopus)
2020

Structural Variants May Be a Source of Missing Heritability in sALS

Theunissen, F., Flynn, L. L., Anderton, R. S., Mastaglia, F., Pytte, J., Jiang, L., Hodgetts, S., Burns, D. K., Saunders, A., Fletcher, S., Wilton, S. D. & Akkari, P. A., 31 Jan 2020, In : Frontiers in Neuroscience. 14, 47.

Research output: Contribution to journalArticle

Open Access
2018

A platform for discovery of functional cell-penetrating peptides for efficient multi-cargo intracellular delivery

Hoffmann, K., Milech, N., Juraja, S. M., Cunningham, P. T., Stone, S. R., Francis, R. W., Anastasas, M., Hall, C. M., Heinrich, T., Bogdawa, H. M., Winslow, S., Scobie, M. N., Dewhurst, R. E., Florez, L., Ong, F., Kerfoot, M., Champain, D., Adams, A. M., Fletcher, S., Viola, H. M. & 10 others, Hool, L. C., Connor, T., Longville, B. A. C., Tan, Y. F., Kroeger, K., Morath, V., Weiss, G. A., Skerra, A., Hopkins, R. M. & Watt, P. M., 1 Dec 2018, In : Scientific Reports. 8, 1, 12538.

Research output: Contribution to journalArticle

Open Access
18 Citations (Scopus)
2019

Reduction of integrin alpha 4 activity through splice modulating antisense oligonucleotides

Aung-Htut, M. T., Comerford, I., Johnsen, R., Foyle, K., Fletcher, S. & Wilton, S. D., 10 Sep 2019, In : Scientific Reports. 9, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
3 Citations (Scopus)
2011
14 Citations (Scopus)
2013
5 Citations (Scopus)

Revertant Fibers in the mdx Murine Model of Duchenne Muscular Dystrophy: An Age and Muscle-Related Reappraisal

Pigozzo, S., Da Re, L., Romualdi, C., Mazzara, P. G., Galletta, E., Fletcher, S., Wilton, S. & Vitiello, L., 2013, In : PLoS One. 8, 8, p. 6pp

Research output: Contribution to journalArticle

Open Access
12 Citations (Scopus)
1 Citation (Scopus)
2019

Antisense-mediated splice intervention to treat human disease: the odyssey continues

Pitout, I., Flynn, L. L., Wilton, S. D. & Fletcher, S., 22 May 2019, In : F1000Research. 8, 710.

Research output: Contribution to journalReview article

Open Access
3 Citations (Scopus)
2020
Open Access
2017

Treatment of Adult mdx Mice with Phosphorodiamidate Morpholino Oligomer Restores Cardiac Mitochondrial Energetics and Prevents the Dystrophic Cardiomyopathy

Viola, H. M., Johnstone, V. P. A., Adams, A. M., Fletcher, S. & Hool, L. C., 3 Feb 2017, In : Biophysical Journal. 112, 3, p. 245A-245A 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2018

Skipping of Duplicated Dystrophin Exons: In Vitro Induction and Assessment

Greer, K., Fletcher, S. & Wilton, S. D., 1 Jan 2018, Methods in Molecular Biology. Yokota, T. & Maruyama, R. (eds.). USA: Humana Press, p. 219-228 10 p. (Methods in Molecular Biology; vol. 1828).

Research output: Chapter in Book/Conference paperChapter

2019

ANTISENSE OLIGONUCLEOTIDES TO IMPROVE CFTR FUNCTION FOR PEOPLE WITH THE INTRON 9 5T POLYMORPHISM

AREST CF, Oct 2019, In : Pediatric Pulmonology. 54, p. S217-S218 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Systematic Approach to Developing Splice Modulating Antisense Oligonucleotides

Aung-Htut, M. T., McIntosh, C. S., Ham, K. A., Pitout, I. L., Flynn, L. L., Greer, K., Fletcher, S. & Wilton, S. D., 11 Oct 2019, In : International Journal of Molecular Sciences. 20, 20

Research output: Contribution to journalArticle

Open Access
1 Citation (Scopus)
2020

Novel mutations found in individuals with adult-onset pompe disease

Aung-Htut, M. T., Ham, K. A., Tchan, M. C., Fletcher, S. & Wilton, S. D., 1 Feb 2020, In : Genes. 11, 2, 135.

Research output: Contribution to journalArticle

Open Access
2 Citations (Scopus)
2011

Gene therapy: Therapeutic applications and relevance to pathology

Both, G., Alexander, I., Fletcher, S., Nicolson, T. J., Rasko, J. E. J., Wilton, S. & Symonds, G., 2011, In : Pathology. 43, 6, p. 642-656

Research output: Contribution to journalArticle

12 Citations (Scopus)
2014

Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene

Greer, K. L., Lochmueller, H., Flanigan, K., Fletcher, S. & Wilton, S. D., 18 Mar 2014, In : Molecular Therapy-Nucleic Acids. 3, p. 1-7 7 p., 155.

Research output: Contribution to journalArticle

Open Access
17 Citations (Scopus)
2011
27 Citations (Scopus)
2014

Antisense oligonucleotide induction of progerin in human myogenic cells

Luo, Y., Mitrpant, C., Adams, A., Johnsen, R., Fletcher, S., Mastaglia, F. & Wilton, S., 2014, In : PLoS One. 9, 6, p. 9pp

Research output: Contribution to journalArticle

Open Access
7 Citations (Scopus)
2013

Antisense suppression of donor splice site mutations in the dystrophin gene transcript

Fletcher, S., Meloni, P., Johnsen, R., Wong, B. L., Muntoni, F. & Wilton, S., 2013, In : Molecular genetics & genomic medicine. 1, 3, p. 162-173

Research output: Contribution to journalArticle

Open Access
9 Citations (Scopus)
2014
Open Access
27 Citations (Scopus)
2017

Comprehending the Health informatics Spectrum: Grappling with System Entropy and Advancing Quality Clinical Research

Bellgard, M. I., Chartres, N., Watts, G. F., Wilton, S., Fletcher, S., Hunter, A. & Snelling, T., 14 Sep 2017, In : Frontiers in Public Health. 5, 5 p., 224.

Research output: Contribution to journalEditorial

Open Access
2016

Deletion of dystrophin in-frame exon 5 leads to a severe phenotype: Guidance for exon skipping strategies

Toh, Z. Y. C., Aung-Htut, M. T., Pinniger, G., Adams, A., Krishnaswarmy, S., Wong, B. L., Fletcher, S. & Wilton, S., 8 Jan 2016, In : PLoS One. 11, 1, p. 1-17 e0145620.

Research output: Contribution to journalArticle

Open Access
File
11 Citations (Scopus)
377 Downloads (Pure)
2019

Consequences of Making the Inactive Active Through Changes in Antisense Oligonucleotide Chemistries

Zaw, K., Greer, K., Aung-Htut, M. T., Mitrpant, C., Veedu, R. N., Fletcher, S. & Wilton, S. D., 20 Dec 2019, In : Frontiers in Genetics. 10, 1249.

Research output: Contribution to journalArticle

Open Access
1 Citation (Scopus)

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

Servián-Morilla, E., Cabrera-Serrano, M., Rivas-Infante, E., Carvajal, A., Lamont, P. J., Pelayo-Negro, A. L., Ravenscroft, G., Junckerstorff, R., Dyke, J. M., Fletcher, S., Adams, A. M., Mavillard, F., Fernández-García, M. A., Nieto-González, J. L., Laing, N. G. & Paradas, C., 1 Mar 2019, In : Acta Neuropathologica Communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
3 Citations (Scopus)
2018

Design of a framework for the deployment of collaborative independent rare disease-centric registries: Gaucher disease registry model

Bellgard, M. I., Napier, K. R., Bittles, A. H., Szer, J., Fletcher, S., Zeps, N., Hunter, A. A. & Goldblatt, J., Feb 2018, In : Blood Cells, Molecules, and Diseases. 68, p. 232-238

Research output: Contribution to journalArticle

Open Access
10 Citations (Scopus)
2019

Removal of the polyglutamine repeat of ataxin-3 by redirecting pre-mrna processing

McIntosh, C. S., Aung-Htut, M. T., Fletcher, S. & Wilton, S. D., 1 Nov 2019, In : International Journal of Molecular Sciences. 20, 21, 5434.

Research output: Contribution to journalArticle

Open Access
2020

Single Exon Skipping Can Address a Multi-Exon Duplication in the Dystrophin Gene

Greer, K., Johnsen, R., Nevo, Y., Fellig, Y., Fletcher, S. & Wilton, S. D., 25 Jun 2020, In : International Journal of Molecular Sciences. 21, 12

Research output: Contribution to journalArticle

Open Access
2019

Breakpoint junction features of seven DMD deletion mutations

Keegan, N. P., Wilton, S. D. & Fletcher, S., 1 Dec 2019, In : Human Genome Variation. 6, 1, 39.

Research output: Contribution to journalArticle

Open Access

ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?

Mejzini, R., Flynn, L. L., Pitout, I. L., Fletcher, S., Wilton, S. D. & Akkari, P. A., 6 Dec 2019, In : Frontiers in Neuroscience. 13, 1310.

Research output: Contribution to journalReview article

Open Access
26 Citations (Scopus)
2020

Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect

Huang, D., Thompson, J. A., Charng, J., Chelva, E., McLenachan, S., Chen, S. C., Zhang, D., McLaren, T. L., Lamey, T. M., Constable, I. J., De Roach, J. N., Aung-Htut, M. T., Adams, A., Fletcher, S., Wilton, S. D. & Chen, F. K., 1 Jul 2020, In : Molecular Genetics and Genomic Medicine. 8, 7, e1259.

Research output: Contribution to journalArticle

Open Access

Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease

Aung-Htut, M. T., Ham, K. A., Tchan, M., Johnsen, R., Schnell, F. J., Fletcher, S. & Wilton, S. D., 1 Dec 2020, In : Scientific Reports. 10, 1, 6702.

Research output: Contribution to journalArticle

Open Access
2012
Open Access
279 Citations (Scopus)