Publications: 

Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis.

DeBose-Scarlett E, Ressler AK, Gallione CJ, Sapisochin Cantis G, Friday C, Weinsheimer S, Schimmel K, Spiekerkoetter E, Kim H, Gossage JR, Faughnan ME, Marchuk DA.

Am J Hum Genet. 2024 Sep 11:S0002-9297(24)00306-9. doi: 10.1016/j.ajhg.2024.08.020. Online ahead of print.  PMID: 39299239