Items where authors include "Mansour, S."

Article

Ludlow, M., Povstyan, O. V., Linley, D. M. et al. (20 more authors) (2025) PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescue. iScience, 28 (8). 113110. ISSN 2589-0042

Mansour, S., Giles, J., Nair, K.P.S. et al. (3 more authors) (2025) A clinical trial evaluating feasibility and acceptability of a brain-computer interface for telerehabilitation in stroke patients. Journal of NeuroEngineering and Rehabilitation, 22. 19. ISSN 1743-0003

Elkhateeb, N. orcid.org/0000-0002-3076-3178, Crookes, R., Spiller, M. et al. (68 more authors) (2025) Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder. Genetics in Medicine, 27 (3). 101348. ISSN 1098-3600

Copeland, H., Low, K.J., Wynn, S.L. et al. (89 more authors) (2024) Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders. Genetics in Medicine Open, 2. 101864. ISSN 2949-7744

Chen, Y. orcid.org/0000-0001-5593-6920, Dawes, R. orcid.org/0000-0003-2135-0117, Kim, H.C. orcid.org/0000-0001-5877-5456 et al. (116 more authors) (2024) De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature, 632. pp. 832-840. ISSN 0028-0836

Smith, C.E.L. orcid.org/0000-0001-8320-5105, Laugel-Haushalter, V., Hany, U. orcid.org/0000-0002-4486-1625 et al. (15 more authors) (2024) Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability. Journal of Medical Genetics. ISSN 0022-2593

Kulasekararaj, A. orcid.org/0000-0003-3180-3570, Cavenagh, J., Dokal, I. et al. (14 more authors) (2024) Guidelines for the diagnosis and management of adult aplastic anaemia: a British Society for Haematology guideline. British Journal of Haematology, 204 (3). pp. 784-804. ISSN 0007-1048

Vezyroglou, A., Akilapa, R., Barwick, K. et al. (26 more authors) (2022) The phenotypic continuum of ATPLA3-related disorders. Neurology, 99 (14). e1511-e1526. ISSN 0028-3878

Mansour, S. orcid.org/0000-0002-0942-5780, Giles, J., Ang, K.K. et al. (3 more authors) (2022) Exploring the ability of stroke survivors in using the contralesional hemisphere to control a brain-computer interface. Scientific Reports, 12. 16223. ISSN 2045-2322

Mansour, S. orcid.org/0000-0002-0942-5780, Ang, K.K., Nair, K.P.S. et al. (2 more authors) (2022) Efficacy of brain-computer interface and the impact of its design characteristics on post-stroke upper-limb rehabilitation: a systematic review and meta-analysis of randomized controlled trials. Clinical EEG and Neuroscience, 53 (1). pp. 79-90. ISSN 1550-0594

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Dingemans, A.J.M., Albaba, S. et al. (36 more authors) (2021) Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. European Journal of Human Genetics, 29 (4). pp. 625-636. ISSN 1018-4813

Schirwani, S., Hauser, N., Platt, A. et al. (6 more authors) (2020) Mosaicism in ASXL3-related syndrome : description of five patients from three families. European Journal of Medical Genetics, 63 (6). 103925. ISSN 1769-7212

McRae, J.F., Clayton, S., Fitzgerald, T.W. et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542 (7642). pp. 433-438. ISSN 0028-0836

Hempel, A., Pagnamenta, A. T., Blyth, M. et al. (18 more authors) (2016) Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. Journal of Medical Genetics, 53 (3). pp. 152-162. ISSN 0022-2593

Fitzgerald, T.W., Gerety, S.S., Jones, W.D. et al. (263 more authors) (2015) Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519. pp. 223-228. ISSN 0028-0836

Proceedings Paper

Mansour, S. orcid.org/0000-0002-0942-5780, Giles, J., Ang, K.K. et al. (3 more authors) (2021) Comparing the performance of contralesional and ipsilesional brain-computer interface in stroke survivors. In: Neuroergonomics Conference 2021 Proceedings. 3rd International Neuroergonomics Conference, 11-16 Sep 2021, Virtual conference. Neuroergonomics Conference .

Preprint

Copeland, H., Low, K.J., Wynn, S. et al. (89 more authors) (2023) Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders. [Preprint] (Submitted)