photo of Sean Massey

Sean Massey

Sean Massey

Details

Role Research Assistant
Research area Genomic Medicine

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
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  • 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
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  • 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
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  • 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
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  • 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
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