Quantifying prion disease penetrance using large population control cohorts
Large genomic reference data sets reveal a spectrum of pathogenicity in the prion protein gene and provide genetic validation for a therapeutic strategy in prion disease.
Publications
View AllThe 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
- company
- Country
- US
- Publications
- 2
- Citations
- 550
External Links
Identifiers
- ROR
- https://ror.org/00q62jx03