Carmel Toomes

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Publications (85)

• Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing
  European Journal of Human Genetics 2026 DOI: 10.1038/s41431-026-02190-y
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• Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models
  Science Advances 2025 DOI: 10.1126/sciadv.adt9354
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• Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies
  Molecular Genetics & Genomic Medicine 2023 DOI: 10.1002/mgg3.2164
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• Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK
  Genes 2023 DOI: 10.3390/genes14010191
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• Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 Locus
  Laboratory Investigation 2023 DOI: 10.1016/j.labinv.2023.100160
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• The Role of Csmd1 during Mammary Gland Development
  Genes 2021 DOI: 10.3390/genes12020162
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• New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease
  2020 DOI: 10.1101/2020.02.20.936880
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• Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes
  Genes 2018 DOI: 10.3390/genes9010021
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• Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
  JAMA ophthalmology 2017 DOI: 10.1001/jamaophthalmol.2017.0046
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• DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM.
  Retina (Philadelphia, Pa.) 2017 DOI: 10.1097/iae.0000000000001570
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