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• 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 journal › Abstract/Meeting Abstract
• 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 journal › Article

  • Bioinformatics
  • Rare Diseases
  • Computational Biology
  • Health
  • Registries
  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 journal › Article

  Open Access
  9 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 journal › Article

  Open Access
  19 Citations (Scopus)

• 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 journal › Article

  Open Access

  • Lamin Type A
  • Antisense Oligonucleotides
  • Oligonucleotides
  • Exons
  • Progeria
  8 Citations (Scopus)
• 2020

  A splice intervention therapy for autosomal recessive juvenile parkinson’s disease arising from parkin mutations

  Li, D., Aung-Htut, M. T., Ham, K. A., Fletcher, S. & Wilton, S. D., 1 Oct 2020, In : International Journal of Molecular Sciences. 21, 19, p. 1-15 15 p., 7282.

  Research output: Contribution to journal › Article

  Open Access

  • Parkinson disease
  • deletion
  • mutations
  • Parkinsonian Disorders
  • Reading Frames
• 2015

  Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient

  Greer, K., Mizzi, K., Rice, E., Kuster, L., Barrero, R. A., Bellgard, M. I., Lynch, B. J., Foley, A. R., O Rathallaigh, E., Wilton, S. & Fletcher, S., 2015, In : Molecular Genetics and Genomics. 3, 4, p. 320-326

  Research output: Contribution to journal › Article

  Open Access
  13 Citations (Scopus)
• 2018

  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 journal › Abstract/Meeting Abstract

  15 Citations (Scopus)
• 2014

  Impaired functional communication between the L-type calcium channel and mitochondria contributes to metabolic inhibition in the mdx heart

  Viola, H., Adams, A., Davies, S., Fletcher, S., Filipovska, A. & Hool, L., Jul 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 28, p. E2905-E2914

  Research output: Contribution to journal › Article

  Open Access

  • L-Type Calcium Channels
  • Dystrophin
  • Voltage-Dependent Anion Channels
  • Duchenne Muscular Dystrophy
  • Mitochondria
  29 Citations (Scopus)
• 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 journal › Article

  Open Access

  • Cell-Penetrating Peptides
  • Cytoplasm
  • Peptide Nucleic Acids
  • Bacterial Genomes
  • Cell Engineering
  24 Citations (Scopus)
• 2020

  NEAT1 polyA-modulating antisense oligonucleotides reveal opposing functions for both long non-coding RNA isoforms in neuroblastoma

  Naveed, A., Cooper, J. A., Li, R., Hubbard, A., Chen, J., Liu, T., Wilton, S. D., Fletcher, S. & Fox, A. H., 10 Sep 2020, In : Cellular and Molecular Life Sciences.

  Research output: Contribution to journal › Article

  • RNA Isoforms
  • Antisense Oligonucleotides
  • Long Noncoding RNA
  • Neuroblastoma
  • Polyadenylation

• 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 journal › Article

  Open Access

  • Stargardt disease 1
  • Pedigree
  • RNA Splice Sites
  • ATP Binding Cassette Transporter, Subfamily A, Member 4
  • Cone-Rod Dystrophies
  1 Citation (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 journal › Article

  Open Access

  • Gaucher Disease
  • Rare Diseases
  • Registries
  • Orphan Drug Production
  • Sustainable Development
  12 Citations (Scopus)
• 2013

  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 journal › Article

  Open Access
  14 Citations (Scopus)
• 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 paper › Chapter

  • Dystrophin
  • Exons
  • In Vitro Techniques
  • Reading Frames
  • Polymerase Chain Reaction
  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 journal › Article

  Open Access

  • Glycogen Storage Disease Type II
  • Mutation
  • Glucosidases
  • Nonsense Codon
  • Muscle Weakness
  2 Citations (Scopus)

• 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 journal › Article

  Open Access

  • Glycogen Storage Disease Type II
  • Late Onset Disorders
  • alpha-Glucosidases
  • Antisense Oligonucleotides
  • Acids
  1 Citation (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 journal › Editorial

  Open Access
• 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 journal › Article

  Open Access

  • Spinal Muscular Atrophy
  • Antisense Oligonucleotides
  • Exons
  • Morpholinos
  • Genes
  55 Citations (Scopus)

• Primary over-expression of AβPP in muscle does not lead to the development of inclusion body myositis in a new lineage of the MCK-AβPP transgenic mouse

  Luo, Y., Johnsen, R., Griffiths, L., Needham, M., Fabian, V. A., Fletcher, S., Wilton, S. & Mastaglia, F., 2013, In : International Journal of Experimental Pathology. 94, 6, p. 418-425

  Research output: Contribution to journal › Article

  • Inclusion Body Myositis
  • Amyloid
  • Transgenic Mice
  • Muscles
  • Electron Microscopy
  1 Citation (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 journal › Review article

  • Antisense Oligonucleotides
  • Precision Medicine
  • Medicine
  • Exons
  • Duchenne Muscular Dystrophy
  16 Citations (Scopus)
• 2020

  Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy

  Roshandel, D., Thompson, J. A., Charng, J., Zhang, D., Chelva, E., Arunachalam, S., Attia, M. S., Lamey, T. M., McLaren, T. L., De Roach, J. N., Mackey, D. A., Wilton, S. D., Fletcher, S., McLenachan, S. & Chen, F., 27 Sep 2020, In : Ophthalmic Genetics.

  Research output: Contribution to journal › Article

  • Retinitis Pigmentosa 11
  • Disease Progression
  • Scotoma
  • RNA Splicing Factors
  • Messenger RNA
• 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 journal › Article

  Open Access
  6 Citations (Scopus)

• RNA splicing manipulation: Strategies to modify gene expression for a variety of therapeutic outcomes

  Wilton, S. & Fletcher, S., 2011, In : Current gene therapy. 11, 4, p. 259-275

  Research output: Contribution to journal › Article
  14 Citations (Scopus)
• 2020

  Progress in the molecular pathogenesis and nucleic acid therapeutics for Parkinson's disease in the precision medicine era

  Li, D., Mastaglia, F. L., Fletcher, S. & Wilton, S. D., 1 Nov 2020, In : Medicinal Research Reviews. 40, 6, p. 2650-2681

  Research output: Contribution to journal › Review article

  Open Access

  • Precision Medicine
  • Nucleic Acids
  • Parkinson Disease
  • Small Interfering RNA
  • Molecular Biology

• 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 journal › Article

  Open Access

  • Oligomers
  • Dystrophin
  • genes
  • Duchenne Muscular Dystrophy
  • Proteins
  1 Citation (Scopus)
• 2018

  The potential of antisense oligonucleotide therapies for inherited childhood lung diseases

  Martinovich, K. M., Shaw, N., Kicic, A., Fletcher, S., Schultz, A., Wilton, S. D. & Stick, S., 2018, In : Molecular and Cellular Pediatrics. 5, 3.

  Research output: Contribution to journal › Review article

  Open Access

  • Antisense Oligonucleotides
  • Lung Diseases
  • eteplirsen
  • RNA Precursors
  • nusinersen
• 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 journal › Review article

  • Oligomers
  • Spinal Muscular Atrophy
  • Exons
  • Duchenne Muscular Dystrophy
  • Interdisciplinary Research
  15 Citations (Scopus)
• 2013

  Investigation of splicing changes and post-translational processing of LMNA in sporadic inclusion body myositis

  Luo, Y-B., Mitrpant, C., Johnsen, R., Fabian, V., Needham, M., Fletcher, S., Wilton, S. & Mastaglia, F., 2013, In : International Journal of Clinical and Experimental Pathology. 6, 9, p. 1723-1733

  Research output: Contribution to journal › Article

  • Inclusion Body Myositis
  • Muscles
  • prelamin A
  • Lamin Type A
  • Alternative Splicing
  5 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 journal › Article
  12 Citations (Scopus)

• Molecular diagnosis of duchenne muscular dystrophy: Past, present and future in relation to implementing therapies

  Laing, N., Davis, M. R., Bayley, K., Fletcher, S. & Wilton, S., 2011, In : Clinical Biochemist Reviews. 32, 3, p. 129-134

  Research output: Contribution to journal › Article

  28 Citations (Scopus)
• 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 journal › Article

  Open Access

  File

  • Dystrophin
  • Exons
  • Phenotype
  • Duchenne Muscular Dystrophy
  • Protein Isoforms
  14 Citations (Scopus)

  399 Downloads (Pure)
• 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 journal › Article

  Open Access

  • Amyotrophic lateral sclerosis 1
  • Amyotrophic Lateral Sclerosis
  • Genomic Structural Variation
  • Human Genome
  • Genetic Variation
  4 Citations (Scopus)

• Nonsequential splicing events alter antisense-mediated exon skipping outcome in COL7A1

  Ham, K. A., Aung-Htut, M. T., Fletcher, S. & Wilton, S. D., 2 Oct 2020, In : International Journal of Molecular Sciences. 21, 20, p. 1-15 15 p., 7705.

  Research output: Contribution to journal › Article

  Open Access

  • Oligomers
  • splicing
  • oligomers
  • Introns
  • Messenger RNA