Pathway analysis identifies novel non-synonymous variants contributing to extreme vascular outcomes in Williams-Beuren syndrome
D. Liu, Charles John Billington, N. Raja, Zoë C. Wong, Mark David Levin, Wolfgang Resch, Camille Alba, Daniel N. Hupalo, Elisa Biamino, Maria Francesca Bedeschi, Maria Cristina Digilio, Gabriella Maria Squeo, R. Villa, Phoebe C. R. Parrish, Russell H. Knutsen, , Beth A. Kozel
The paper identifies novel non-synonymous variants associated with extreme vascular outcomes in Williams-Beuren syndrome through whole-genome sequencing and pathway analysis.
medRxiv · Sep 21, 2022 · PreprintGenetic & Genomic Medicine