Functional Predictors of Causative Cis-Regulatory Mutations in Mendelian Disease
Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R. Louros, Jilly E. Hope, Adam Jackson, James G. D. Prendergast, Liusaidh J. Owen, Magali Naville, Jacqueline K. Rainger, Graeme R. Grimes, Mihail R. Halachev, Laura C. Murphy, Olivera Spasić-Bošković, , 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.
bioRxiv · Aug 3, 2020 · PreprintGenetics