Cristina Dias

This study identifies inactivating CSTF2 variants in males with intellectual disability and shows they disrupt intronic polyadenylation patterns, linking CSTF2 to neurodevelopmental disorders.

The paper finds that higher serum theobromine levels are associated with slower epigenetic ageing in humans, as measured by GrimAge and DNAmTL.

The paper identifies 3'UTR variants disrupting cleavage and polyadenylation as potential causes of undiagnosed rare disorders using deep learning on Genomics England data.

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.

This study shows ASCL1 interacts with mSWI/SNF complexes to regulate chromatin structure and gene expression during human neurogenesis.