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Eric Vallabh Minikel | Researchclopedia

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Eric Vallabh Minikel

Prion Alliance ORCID

121

Works

29,889

Citations

39

h-index

56

i10-index

Research Topics

Prion Diseases and Protein Misfolding Genomics and Rare Diseases Neurological diseases and metabolism

Affiliations

Broad Institute2012–2025

Centre National de la Recherche Scientifique2019–2019

MACOM (United States)2024–2024

Harvard University2016–2025

Inserm2019–2019

Top Works

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek,Konrad J. Karczewski,et al.

201610,248 citations

Trace Elements in Health

RNA Research and Splicing

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski,Laurent C. Francioli,et al.

20209,878 citations

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski,Laurent C. Francioli,et al.

20191,767 citations

A structural variation reference for medical and population genetics

Ryan L. Collins,Harrison Brand,et al.

20201,137 citations

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Roddy Walsh,Kate Thomson,et al.

2016752 citations

Quantifying prion disease penetrance using large population control cohorts

Eric Vallabh Minikel,Sonia M. Vallabh,et al.

2016463 citations

Using high-resolution variant frequencies to empower clinical genome interpretation

Nicola Whiffin,Eric Vallabh Minikel,et al.

2017459 citations

Effect of predicted protein-truncating genetic variants on the human transcriptome

Manuel A. Rivas,Matti Pirinen,et al.

2015339 citations

Refining the impact of genetic evidence on clinical success

Eric Vallabh Minikel,Jeffery L. Painter,et al.

2024262 citations