Whole Exome Sequencing of Suspected Monogenic Cerebral Small Vessel Disease Patients reveals Novel Gene Associations
Solomon K. Guyler, Mohammed M. Alfayyadh, Neven Maksemous, Rod A. Lea, Robert A. Smith, Heidi G. E. Sutherland, Lyn Robyn Griffiths
The paper performs whole exome sequencing on CSVD patients to identify novel gene associations and finds significant variants in ABCC6, MYH11, NOTCH1, and seven other genes.
medRxiv · Feb 16, 2026 · PreprintGenetic & Genomic Medicine