One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome.
Robert MeyerMatthias BegemannChristian Thomas HübnerDaniela DeyAlma KuechlerMagdeldin ElgizouliUlrike ScharaLaima AmbrozaityteBirute BurnyteCarmen SchröderAsmaa KenawyPeter KroiselStephanie DemuthGyorgy FeketeThomas OpladenMiriam ElbrachtEggermann ThomasPublished in: Orphanet journal of rare diseases (2021)
WES approaches significantly increase the diagnostic yield in patients referred for SRS testing. Several of the identified monogenetic disorders have a major impact on clinical management and genetic counseling.