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Year Number of Results
2014 2
2016 2
2019 5
2020 7
2021 5
2022 3
2023 5
2024 1

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30 results

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Page 1
The mutational constraint spectrum quantified from variation in 141,456 humans.
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME; Genome Aggregation Database Consortium; Neale BM, Daly MJ, MacArthur DG. Karczewski KJ, et al. Among authors: minikel ev. Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27. Nature. 2020. PMID: 32461654 Free PMC article.
A single-cell map of antisense oligonucleotide activity in the brain.
Mortberg MA, Gentile JE, Nadaf NM, Vanderburg C, Simmons S, Dubinsky D, Slamin A, Maldonado S, Petersen CL, Jones N, Kordasiewicz HB, Zhao HT, Vallabh SM, Minikel EV. Mortberg MA, et al. Among authors: minikel ev. Nucleic Acids Res. 2023 Aug 11;51(14):7109-7124. doi: 10.1093/nar/gkad371. Nucleic Acids Res. 2023. PMID: 37188501 Free PMC article.
Antisense oligonucleotides extend survival of prion-infected mice.
Raymond GJ, Zhao HT, Race B, Raymond LD, Williams K, Swayze EE, Graffam S, Le J, Caron T, Stathopoulos J, O'Keefe R, Lubke LL, Reidenbach AG, Kraus A, Schreiber SL, Mazur C, Cabin DE, Carroll JB, Minikel EV, Kordasiewicz H, Caughey B, Vallabh SM. Raymond GJ, et al. Among authors: minikel ev. JCI Insight. 2019 Jul 30;5(16):e131175. doi: 10.1172/jci.insight.131175. JCI Insight. 2019. PMID: 31361599 Free PMC article.
Evaluating drug targets through human loss-of-function genetic variation.
Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, Alföldi J, Trembath RC, van Heel DA, Daly MJ; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Schreiber SL, MacArthur DG. Minikel EV, et al. Nature. 2020 May;581(7809):459-464. doi: 10.1038/s41586-020-2267-z. Epub 2020 May 27. Nature. 2020. PMID: 32461653 Free PMC article.
Multimodal small-molecule screening for human prion protein binders.
Reidenbach AG, Mesleh MF, Casalena D, Vallabh SM, Dahlin JL, Leed AJ, Chan AI, Usanov DL, Yehl JB, Lemke CT, Campbell AJ, Shah RN, Shrestha OK, Sacher JR, Rangel VL, Moroco JA, Sathappa M, Nonato MC, Nguyen KT, Wright SK, Liu DR, Wagner FF, Kaushik VK, Auld DS, Schreiber SL, Minikel EV. Reidenbach AG, et al. Among authors: minikel ev. J Biol Chem. 2020 Sep 25;295(39):13516-13531. doi: 10.1074/jbc.RA120.014905. Epub 2020 Jul 28. J Biol Chem. 2020. PMID: 32723867 Free PMC article.
A single-cell map of antisense oligonucleotide activity in the brain.
Mortberg MA, Gentile JE, Nadaf N, Vanderburg C, Simmons S, Dubinsky D, Slamin A, Maldonado S, Petersen CL, Jones N, Kordasiewicz HB, Zhao HT, Vallabh SM, Minikel EV. Mortberg MA, et al. Among authors: minikel ev. bioRxiv [Preprint]. 2023 Feb 14:2023.02.14.528473. doi: 10.1101/2023.02.14.528473. bioRxiv. 2023. PMID: 36824749 Free PMC article. Updated. Preprint.
Biomarker changes preceding symptom onset in genetic prion disease.
Vallabh SM, Mortberg MA, Allen SW, Kupferschmid AC, Kivisäkk P, Hammerschlag BL, Bolling A, Trombetta BA, Devitte-McKee K, Ford AM, Sather L, Duffy G, Rivera A, Gerber J, McManus AJ, Minikel EV, Arnold SE. Vallabh SM, et al. Among authors: minikel ev. medRxiv [Preprint]. 2023 Dec 18:2023.12.18.23300042. doi: 10.1101/2023.12.18.23300042. medRxiv. 2023. PMID: 38196583 Free PMC article. Preprint.
30 results