Browsing 2018 RD&E publications by Author "Rawlins, Lettie"
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Yuan, B. [et al]; Baple, Emma L.; Rawlins, Lettie; Crosby, Andrew H. (Nature, 2018-08-30)Defects in the cohesin pathway are associated with cohesinopathies, notably Cornelia de Lange syndrome (CdLS). We aimed to delineate pathogenic variants in known and candidate cohesinopathy genes from a clinical exome perspective.