Analysis of gene panel next-generation sequencing results shows enrichment of the MYH11 gene duplication in aortopathy cases compared to controls

Ellen Regalado, PhD, CGC, Meghan Mannello, MS, CGC, Yi-Lee Ting, MS, CGC, Kathleen Dady, MS, CGC, Andrea Nagl, MS, CGC, Rachel Lewis, MS, Matteo Vatta, PhD, FACMG

Event: ASHG 2025