| 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 | 10729 | 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 | 9586* | 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 | 742 | 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 | 460 | 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 | 389 | 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 | 370 | 2015 |
| Antisense oligonucleotides: A primer DR Scoles, EV Minikel, SM Pulst Neurology: Genetics 5 (2), e323, 2019 | 214 | 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 | 180* | 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 | 131 | 2016 |
| Antisense oligonucleotides extend survival of prion-infected mice GJ Raymond, HT Zhao, B Race, LD Raymond, K Williams, EE Swayze, ... JCI insight 4 (16), e131175, 2019 | 118 | 2019 |
| 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 | 117* | 2020 |
| Refining the impact of genetic evidence on clinical success EV Minikel, JL Painter, CC Dong, MR Nelson Nature 629 (8012), 624-629, 2024 | 110 | 2024 |
| 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 | 107 | 2020 |
| 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 | 100 | 2018 |
| 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 | 97 | 2014 |
| Cyclist safety on bicycle boulevards and parallel arterial routes in Berkeley, California E Minikel Accident Analysis & Prevention 45, 241-247, 2012 | 97 | 2012 |
| 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 | 79 | 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 | 71 | 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 | 60 | 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 | 59 | 2012 |
Daniel G MacArthurGarvan Institute of Medical Research, Murdoch Children's Research InstitutePreverjeni e-poštni naslov na garvan.org.au