Eric Vallabh Minikel
Prion Alliance(US)
Publications by Year
Research Areas
Prion Diseases and Protein Misfolding, Genomics and Rare Diseases, Neurological diseases and metabolism, Trace Elements in Health, RNA Research and Splicing
Most-Cited Works
- → Analysis of protein-coding genetic variation in 60,706 humans(2016)10,243 cited
- → The mutational constraint spectrum quantified from variation in 141,456 humans(2020)9,856 cited
- → A structural variation reference for medical and population genetics(2020)1,132 cited
- → Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples(2016)751 cited
- → Quantifying prion disease penetrance using large population control cohorts(2016)463 cited
- → Using high-resolution variant frequencies to empower clinical genome interpretation(2017)459 cited
- → Effect of predicted protein-truncating genetic variants on the human transcriptome(2015)339 cited
- → Refining the impact of genetic evidence on clinical success(2024)259 cited
- → Transcript expression-aware annotation improves rare variant interpretation(2020)200 cited