Sean Massey
Sean Massey
Top Publications
- Massey, S, Guo, Y, Riley, LG, Van Bergen, NJ, Sandaradura, SA, McCusker, E, Tchan, M, Thauvin-Robinet, C, Thomas, Q, Moreau, T, et al. Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia. Neurology Genetics 9(1) : e200051 2023 view publication
- Van Bergen, NJ, Bell, KM, Carey, K, Gear, R, Massey, S, Murrell, EK, Gallacher, L, Pope, K, Lockhart, PJ, Kornberg, A, et al. Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans. Human Molecular Genetics 31(3) : 362 -375 2022 view publication
- Van Bergen, NJ, Massey, S, Stait, T, Ellery, M, Reljić, B, Formosa, LE, Quigley, A, Dottori, M, Thorburn, D, Stroud, DA, et al. Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder. Neurobiology of Disease 155: 105370 2021 view publication
- Van Bergen, NJ, Ahmed, SM, Collins, F, Cowley, M, Vetro, A, Dale, RC, Hock, DH, de Caestecker, C, Menezes, M, Massey, S, et al. Mutations in the exocyst component EXOC2 cause severe defects in human brain development. Journal of Experimental Medicine 217(10) : e20192040 2020 view publication
- Kaur, S, Van Bergen, NJ, Verhey, KJ, Nowell, CJ, Budaitis, B, Yue, Y, Ellaway, C, Brunetti‐Pierri, N, Cappuccio, G, Bruno, I, et al. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). Human Mutation 41(10) : 1761 -1774 2020 view publication
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