St Mary's Hospital

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Abstract Upstream open reading frames (uORFs) are tissue-specific cis -regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs ...

Locus Reference Genomic sequences: an improved basis for describing human DNA variants

As our knowledge of the complexity of gene architecture grows, and we increase our understanding of the subtleties of gene expression, the process of accurately describing disea...

Anchorage in the developing placenta: An overlooked determinant of pregnancy outcome?

Anchoring villi are peripheral trophoblastic specializations that attach the placenta to the uterine wall. In addition, they supply the migratory trophoblast population that col...