Minikel, Eric V.

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

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 9,587

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

Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 9,434

A genomic mutational constraint map using variation in 76,156 human genomes

Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., et al. (2024) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,727

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

Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,662

A structural variation reference for medical and population genetics

Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., et al. (2020) · Nature

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 1,037

Quantifying prion disease penetrance using large population control cohorts

Minikel, E. V., Vallabh, S. M., Lek, M., Estrada, K., Samocha, K. E., Sathirapongsasuti, J. F., McLean, C. Y., Tung, J. Y., Yu, L. P. C., Gambetti, P., et al. (2016) · Science Translational Medicine

Prion Diseases and Protein MisfoldingGenomics and Rare Diseases

Cited by 442

Using high-resolution variant frequencies to empower clinical genome interpretation

Whiffin, N., Minikel, E., Walsh, R., O’Donnell-Luria, A. H., Karczewski, K., Ing, A. Y., Barton, P. J. R., Funke, B., Cook, S. A., MacArthur, D., et al. (2017) · Genetics in Medicine

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 441

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

Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., et al. (2015) · Science

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 313

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Rivas, M. A., Avila, B. E., Koskela, J., Huang, H., Stevens, C., Pirinen, M., Haritunians, T., Neale, B. M., Kurki, M., Ganna, A., et al. (2018) · PLoS Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 87

Autism Spectrum Disorder Genetics: Diverse Genes with Diverse Clinical Outcomes

Talkowski, M. E., Minikel, E. V., & Gusella, J. F. (2014) · Harvard Review of Psychiatry

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 72

A single-cell map of antisense oligonucleotide activity in the brain

Mortberg, M. A., Gentile, J. E., Nadaf, N. M., Vanderburg, C., Simmons, S., Dubinsky, D., Slamin, A., Maldonado, S., Petersen, C. L., Jones, N., et al. (2023) · Nucleic Acids Research

RNA Interference and Gene DeliveryAlzheimer's disease research and treatments

Cited by 54

Evidence that minocycline treatment confounds the interpretation of neurofilament as a biomarker

Gentile, J. E., Heiss, C., Corridon, T. L., Mortberg, M. A., Fruhwürth, S., Guzman, K., Grötschel, L., Chan, K., Herring, N. C., Janicki, T., et al. (2024) · Brain Communications

Prion Diseases and Protein MisfoldingAlzheimer's disease research and treatments

Cited by 11