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.. Neurol Genet 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.. Hum Mol Genet 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.. Neurobiol Dis 155: 105370 2021 view publication
- Kaur, S, Van Bergen, NJ, Ben-Zeev, B, Leonardi, E, Tan, TY, Coman, D, Kamien, B, White, SM, St John, M, Phelan, D, et al. Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).. J Genet Genomics 47(10) : 650 -654 2020 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.. J Exp Med 217(10) : 2020 view publication
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