Hugh Stephen Markus

This study identifies HTRA1 deficiency in COL4A1 mutant astrocytes as a mechanism underlying BBB dysfunction in cerebral small vessel disease.

This study identifies cognitive impairment and white matter defects in a mouse model of cerebral small vessel disease caused by Col4a1 mutations and shows that targeting protein folding can alleviate these issues.

This study uses Mendelian randomization to identify plasma proteins associated with stroke risk and potential therapeutic targets.

This study uses Mendelian randomization to assess the causal effects of education, smoking, and BMI on stroke risk, finding independent associations with different stroke subtypes.

This study uses Mendelian randomization to show that genetic predisposition to T2D and hyperglycemia increases risk of ischemic and small vessel stroke, with distinct effects of insulin resistance and beta-cell dysfunction.

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

The paper identifies subtype-specific genetic loci associated with stroke subtypes and finds heterogeneity in their effects across different stroke types.