Universitat de Vic - Universitat Central de Catalunya - Academic Profile

Publications

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

Nicola Whiffin , Konrad J. Karczewski , Xiaolei Zhang +97 more

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 ...

2020 Nature Communications 171 citations

Evaluating drug targets through human loss-of-function genetic variation

Eric Vallabh Minikel , Konrad J. Karczewski , Hilary C. Martin +97 more

2020 Nature 167 citations

The effect of LRRK2 loss-of-function variants in humans

Nicola Whiffin , Irina M. Armean , Aaron Kleinman +97 more

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 ...

2020 Nature Medicine 106 citations

Institution Info

Type: education
Country: ES
Publications: 3
Citations: 444

External Links

Identifiers

ROR: https://ror.org/006zjws59