Recent publications
Article
Freeman, K, Taylor, D, Dinnes, J, Clark, CCA, Kander, I, Scandrett, K, Chockalingam, S, Dracup, N, Court, R, Butt, F, Visintin, C, Bonham, JR, Elliman, D, Shortland, G, Mackie, A, Miedzybrodzka, Z, Morgan, S, Boardman, F, Takwoingi, Y, Shinkins, B, Clarke, A & Taylor-Phillips, S 2025, 'Challenges in the evaluation of whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers', BMJ Medicine. https://doi.org/10.1136/ bmjmed-2025-001726
Freeman, K, Dinnes, J, Shinkins, B, Clark, C, Kander, I, Scandrett, K, Chockalingam, S, Osman, A, Dracup, N, Court, R, Butt, F, Visintin, C, Bonham, JR, Elliman, D, Shortland, G, Mackie, A, Miedzybrodzka, Z, Morgan, SM, Boardman, F, Takwoingi, Y & Taylor-Phillips, S 2025, 'Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews', Health Technology Assessment. https://doi.org/10.3310/DJRF1124
Review article
Yousefi, M, Mehrabian, A, Brown, A, Butt, F, Donoghue, J, Parr, J, Patel, M, Grove, A, Parsons, J & Auguste, P 2025, 'Economic evaluations of disease-modifying therapies for spinal muscular atrophy: a systematic literature review', Orphanet Journal of Rare Diseases. https://doi.org/10.1186/s13023-025-04150-z
Mehrabian, A, Auguste, P, Grove, A, Brown, A, Parr, J, Patel, M, Butt, F, Donoghue, J, Yousefi, M & Parsons, J 2025, 'Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review', Annals of Clinical and Translational Neurology. https://doi.org/10.1002/acn3.70274
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