![Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data]()
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing dataChen, Xiao; Sanchis-Juan, Alba; French, Courtney E.; Connell, Andrew J.; Delon, Isabelle; Kingsbury, Zoya; Chawla, Aditi; Halpern, Aaron L.; Taft, Ryan J.; Bentley, David R.; Butchbach, Matthew E. R.; Raymond, F. Lucy; Eberle, Michael A. · Genetics in Medicine · 2020