Analysis of protein-coding genetic variation in 60,706 humans M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ... Nature 536 (7616), 285-291, 2016 | 10203 | 2016 |
The mutational constraint spectrum quantified from variation in 141,456 humans KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ... Nature 581 (7809), 434-443, 2020 | 8088* | 2020 |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples R Walsh, KL Thomson, JS Ware, BH Funke, J Woodley, KJ McGuire, ... Genetics in Medicine 19 (2), 192-203, 2017 | 669 | 2017 |
Using high-resolution variant frequencies to empower clinical genome interpretation N Whiffin, E Minikel, R Walsh, AH O’Donnell-Luria, K Karczewski, AY Ing, ... Genetics in Medicine 19 (10), 1151-1158, 2017 | 414 | 2017 |
Quantifying prion disease penetrance using large population control cohorts EV Minikel, SM Vallabh, M Lek, K Estrada, KE Samocha, ... Science translational medicine 8 (322), 322ra9-322ra9, 2016 | 360 | 2016 |
Effect of predicted protein-truncating genetic variants on the human transcriptome MA Rivas, M Pirinen, DF Conrad, M Lek, EK Tsang, KJ Karczewski, ... Science 348 (6235), 666-669, 2015 | 341 | 2015 |
Antisense oligonucleotides: A primer DR Scoles, EV Minikel, SM Pulst Neurology: Genetics 5 (2), e323, 2019 | 176 | 2019 |
Evaluating drug targets through human loss-of-function genetic variation EV Minikel, KJ Karczewski, HC Martin, BB Cummings, N Whiffin, ... Nature 581 (7809), 459-464, 2020 | 146* | 2020 |
Strictly co-isogenic C57BL/6J-Prnp−/− mice: A rigorous resource for prion science M Nuvolone, M Hermann, S Sorce, G Russo, C Tiberi, P Schwarz, ... Journal of Experimental Medicine 213 (3), 313-327, 2016 | 112 | 2016 |
The effect of LRRK2 loss-of-function variants in humans N Whiffin, IM Armean, A Kleinman, JL Marshall, EV Minikel, JK Goodrich, ... Nature Medicine 26 (6), 869-877, 2020 | 105* | 2020 |
Antisense oligonucleotides extend survival of prion-infected mice GJ Raymond, HT Zhao, B Race, LD Raymond, K Williams, EE Swayze, ... JCI insight 4 (16), 2019 | 101 | 2019 |
Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes ME Talkowski, EV Minikel, JF Gusella Harvard review of psychiatry 22 (2), 65-75, 2014 | 100 | 2014 |
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population MA Rivas, BE Avila, J Koskela, H Huang, C Stevens, M Pirinen, ... PLoS genetics 14 (5), e1007329, 2018 | 92 | 2018 |
Cyclist safety on bicycle boulevards and parallel arterial routes in Berkeley, California E Minikel Accident Analysis & Prevention 45, 241-247, 2012 | 92 | 2012 |
Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints EV Minikel, HT Zhao, J Le, J O’Moore, R Pitstick, S Graffam, GA Carlson, ... Nucleic acids research 48 (19), 10615-10631, 2020 | 85 | 2020 |
Age of onset in genetic prion disease and the design of preventive clinical trials E Minikel, S Vallabh, M Orseth, JP Brandel, S Haik, JL Laplanche, I Zerr, ... Neurology 92, P1. 1-010, 2019 | 72 | 2019 |
Towards a treatment for genetic prion disease: trials and biomarkers SM Vallabh, EV Minikel, SL Schreiber, ES Lander The Lancet Neurology 19 (4), 361-368, 2020 | 64 | 2020 |
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring–Opitz Syndrome CM Carlston, AH O'Donnell‐Luria, HR Underhill, BB Cummings, ... Human mutation 38 (5), 517-523, 2017 | 58 | 2017 |
Measuring per mile risk for pay-as-you-drive automobile insurance J Ferreira Jr, E Minikel Transportation research record 2297 (1), 97-103, 2012 | 53 | 2012 |
Ascertainment bias causes false signal of anticipation in genetic prion disease EV Minikel, I Zerr, SJ Collins, C Ponto, A Boyd, G Klug, A Karch, J Kenny, ... The American Journal of Human Genetics 95 (4), 371-382, 2014 | 47 | 2014 |