Publications
View AllThe mutational constraint spectrum quantified from variation in 141,456 humans
Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the f...
A natural antisense transcript regulates Zeb2/Sip1 gene expression during Snail1-induced epithelial–mesenchymal transition
Expression of Snail1 in epithelial cells triggers an epithelial–mesenchymal transition (EMT). Here, we demonstrate that the synthesis of Zeb2, a transcriptional repressor of E-c...
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 ...
The effect of LRRK2 loss-of-function variants in humans
Abstract Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be ...
Affiliated Researchers
Institution Info
- Type
- healthcare
- Country
- ES
- Publications
- 9
- Citations
- 22,948
External Links
Identifiers
- ROR
- https://ror.org/03a8gac78