Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing. - Hou H; Yuki KE; Costain G; Szuto A; Barnes S; Ramani AK; Celik A; Braga M; Gloven-Brown M; Stavropoulos DJ; Bowdin S; Cohn RD; et al. (NPJ genomic medicine, 2025)