GeneticsbioRxivPreprint
Functional Predictors of Causative Cis-Regulatory Mutations in Mendelian Disease
Hemant Bengani, Detelina Grozeva, Lambert Moyon…·David R FitzPatrick
The paper identifies rare CRE variants associated with X-linked intellectual disability by combining sequencing, functional assays in zebrafish and mice, and phenotypic analysis.