Items where authors include "Mansour, S."

Article

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)