MRC London Institute of Medical Sciences - 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

Affiliated Researchers

James S. Ware

MRC London Institute of Medical Sciences

Institution Info

Type: facility
Country: GB
Publications: 3
Citations: 444

External Links

Identifiers

ROR: https://ror.org/05p1n6x86