photo of Dr Sarah Stephenson

Dr Sarah Stephenson

Dr Sarah Stephenson

Details

Role Team Leader / Senior Research Officer
Group Neurogenetics (BLC)

Top Publications

  • Stephenson, SEM, Costain, G, Blok, LER, Silk, MA, Nguyen, TB, Dong, X, Alhuzaimi, DE, Dowling, JJ, Walker, S, Amburgey, K, et al. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. American Journal of Human Genetics 109(4) : 601 -617 2022
    view publication
  • Lee, WS, Baldassari, S, Stephenson, SEM, Lockhart, PJ, Baulac, S, Leventer, RJ. Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis. International Journal of Molecular Sciences 23(3) : 1344 2022
    view publication
  • Stephenson, SEM, Maixner, WJ, Barton, SM, D'Arcy, C, Mandelstam, SA, MacGregor, D, Lockhart, PJ, Leventer, RJ, Harvey, AS. Resection of tuber centers only for seizure control in tuberous sclerosis complex. Epilepsy Research 171: 106572 2021
    view publication
  • Lee, WS, Baldassari, S, Chipaux, M, Adle‐Biassette, H, Stephenson, SEM, Maixner, W, Harvey, AS, Lockhart, PJ, Baulac, S, Leventer, RJ. Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia. Annals of Clinical and Translational Neurology 8(2) : 485 -490 2021
    view publication
  • Lee, WS, Stephenson, SEM, Pope, K, Gillies, G, Maixner, W, Macdonald-Laurs, E, MacGregor, D, D'Arcy, C, Jackson, G, Harvey, AS, et al. Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy.. Neurology 95(18) : e2542 -e2551 2020
    view publication

Page 1 of 6

Professional activities