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44 Publications listed
Centripetal Retinal Degeneration Follows an Exponential Decay and May Be Reversed Following Gene Therapy
Published 2026
Eye
Nuffield Laboratory of Ophthalmology (M.E.A.A.E., A.S.J., S.R., R.E.M.), Department of Clinical Neurosciences, University of Oxford
doi: 10.1016/j.ajo.2026.05.029
Abdalla Elsayed MEA, Josan AS, Rehman S, Maclaren RE., Am J Ophthalmol. 2026 Sep;289:76-86. doi: 10.1016/j.ajo.2026.05.029. Epub 2026 May 22. PMID: 42176833.
Spatial transcriptomics implicates the thalamus and cortex in autism and schizophrenia
Published 2026
Brain
University of California, San Francisco,
Agency for Science, Technology and Research, Singapore,
Loma Linda University,
Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford,
University of Pittsburgh School of Medicine
10.64898/2026.05.15.724759
Young DM, Sharma R, Rohani N, Dema C, Liang L, Devlin B, Manoli DS, Sanders SJ., bioRxiv [Preprint]. 2026 May 15:2026.05.15.724759. doi: 10.64898/2026.05.15.724759. PMID: 42182261; PMCID: PMC13192642.
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery
Published 2026
Genomics
Centre for Human Genetics, University of Oxford,
University of Exeter,
Broad Institute of MIT and Harvard,
University of Manchester,
Imperial College London,
Murdoch Children’s Research Institute,
NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology,
Metabolic Department, Great Ormond Street Hospital,
University of Melbourne,
Neuroscience Research Australia (NeuRA),
Great Ormond Street Hospital for Children,
Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford,
University of Manchester
doi.org/10.64898/2026.05.13.26352722
McGuigan A, Pagnamenta AT, Covill LE, Samson J, et al. , medRxiv [Preprint]. 2026 May 15:2026.05.13.26352722. doi: 10.64898/2026.05.13.26352722. PMID: 42180369; PMCID: PMC13193078.
The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study
Published 2026
Spinal Muscular Atrophy (SMA)
Brain
SMN1,
SMN2
Fondazione Agostino Gemelli IRCCS,
Università Cattolica del Sacro Cuore,
NIHR (National Institute for Health and Care Research) Oxford Biomedical Research Centre, University of Oxford
doi.org/10.1016/j.eclinm.2026.103931
Cicala G, Capasso A, Villa M et al., eClinicalMedicine, 2026; 95
Personalized CRISPR therapies could soon reach thousands — here’s how
Published 2026
Blood,
Brain,
Eye,
Genomics,
Delivery
University of California, Berkeley - IGI
10.1038/d41586-026-01243-y
Nature . 2026 Apr;652(8111):857-859. doi: 10.1038/d41586-026-01243-y