• Neurology Unit
  • Research Theme Beyond the Neuron

    Mr Bernard Cho

    University Position
    PhD student


    My PhD project focuses on unravelling the genetics of cerebral small vessel disease (SVD). Whilst contributing to the 100,000 Genome Project, it aims to integrate genomic analysis and clinical data to assess the downstream implications of genotype-to-phenotype correlations underlying SVD. I am especially interested in investigating the biological consequences of disease-associated variants to provide an avenue for delineating the pathways that promote SVD.

    Key Publications


    Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.

    Journal: JAMA Neurol
    E-pub date: 1 Dec 2022
    Authors: BPH Cho, EL Harshfield, M Al-Thani, DJ Tozer, S Bell, HS Markus

    Both vascular risk factors and common genetic variants influence penetrance of variants causing monogenic stroke

    E-pub date: 1 Aug 2022
    Authors: BPH Cho, E Harshfield, M Al-Thani, D Tozer, S Bell, H Markus

    NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.

    Journal: J Neurol Neurosurg Psychiatry
    E-pub date: 1 Jul 2021
    Authors: BPH Cho, S Nannoni, EL Harshfield, D Tozer, S Gräf, S Bell, HS Markus