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44 Publications listed

Efficacy of anti-VEGF single-chain variable fragment AAV-based gene therapy in a laser-induced choroidal neovascularisation mouse model

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Published 2026

Eye

Nuffield Department of Clinical Neuroscience, University of Oxford, University of Southampton, Queen's University Belfast, Intas Pharmaceuticals Ltd, Oxford Eye Hospital

Salman A, Griffiths H, Garba K, Lynn SA, Cree AJ, Szczepan M, Jashal CB, Chozhavel T M R, Rao P, Modi K, MacLaren RE, Yuen HM, Lotery AJ.

10.1016/j.omta.2026.201756

Salman A, Griffiths H, Garba K, Lynn SA, Cree AJ, Szczepan M, Jashal CB, Chozhavel T M R, Rao P, Modi K, MacLaren RE, Yuen HM, Lotery AJ. Mol Ther Adv. 2026 May 9;34(2):201756. doi: 10.1016/j.omta.2026.201756. PMID: 42254804; PMCID: PMC13234463.

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Genetic or pharmacological disruption of the MSH3 Y245/K246 IDL binding pocket slows CAG repeat expansion

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Published 2026

Huntington's disease (HD)

Brain

University College London (UCL)

Goold R, Donaldson J, Gidney F, Goff P, Hamilton J, Elmasri M, Coupland L, Flower M, Tabrizi SJ.

10.1093/narmme/ugag031

Goold R, Donaldson J, Gidney F, Goff P, Hamilton J, Elmasri M, Coupland L, Flower M, Tabrizi SJ., NAR Mol Med. 2026 Jun 5;3(2):ugag031. doi: 10.1093/narmme/ugag031. PMID: 42317610; PMCID: PMC13273312.

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Health economic evaluations of genomic newborn screening: Approaches by studies within the international consortium on newborn sequencing

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Published 2026

Health Economics, Brain, Blood, Genomics, Eye, Delivery

Harvard Pilgrim Health Care Institute, Queen Mary University of London, Harvard Medical School, University of Liège, University of Adelaide, FHU TRANSLAD, CHU Dijon Bourgogne, Murdoch Children’s Research Institute, University of Melbourne, University of Oxford

Smith HS, Vu M, Dangouloff T, Schubert C, Level C, Lamsal R, Christensen KD, Stark Z, Goranitis I, Aujla M, Westover T, Ponte A, Shah N, Servais L, Bailey M, Lavelle TA, Grosse SD, Norris S, Buchanan J.

10.1038/s41431-026-02136-4

Smith HS, Vu M, Dangouloff T, Schubert C, et al, Eur J Hum Genet. 2026 Jun 4. doi: 10.1038/s41431-026-02136-4. Epub ahead of print. PMID: 42236918

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The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review

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Published 2026

Genomics

University of Oxford, Queen Mary University of London

McElwee F, Sansom SL, Buchanan J, Taylor JC, Wordsworth S.

10.1038/s41431-026-02146-2

McElwee F, Sansom SL, Buchanan J, Taylor JC, Wordsworth S., Eur J Hum Genet. 2026 Jun 1. doi: 10.1038/s41431-026-02146-2. Epub ahead of print. PMID: 42225956.

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Targeting toxic HTT1a could be the key to treating Huntington's disease

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Published 2026

Huntington's disease (HD)

Brain

University College London (UCL)

Freja Sadler, Sarah J Tabrizi

10.1038/s41582-026-01222-x

Sadler F, Tabrizi SJ. Targeting toxic HTT1a could be the key to treating Huntington disease. Nat Rev Neurol. 2026 Sep;22(9):547-548. doi: 10.1038/s41582-026-01222-x. PMID: 42191933.

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