Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets. - Weisburd B; Sharma R; Pata V; Reimand T; Ganesh VS; Austin-Tse C; Osei-Owusu I; O'Heir E; O'Leary M; Pais L; Stafki SA; Daugherty AL; et al. (Genetics in medicine : official journal of the American College of Medical Genetics, 2025)