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Year Number of Results
2014 2
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2017 3
2018 1
2019 7
2020 8
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2023 5
2024 5

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44 results

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Page 1
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H. Walsh R, et al. Among authors: minikel ev. Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17. Genet Med. 2017. PMID: 27532257 Free PMC article.
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Lek M, et al. Among authors: minikel ev. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
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.
Brainwide silencing of prion protein by AAV-mediated delivery of an engineered compact epigenetic editor.
Neumann EN, Bertozzi TM, Wu E, Serack F, Harvey JW, Brauer PP, Pirtle CP, Coffey A, Howard M, Kamath N, Lenz K, Guzman K, Raymond MH, Khalil AS, Deverman BE, Minikel EV, Vallabh SM, Weissman JS. Neumann EN, et al. Among authors: minikel ev. Science. 2024 Jun 28;384(6703):ado7082. doi: 10.1126/science.ado7082. Epub 2024 Jun 28. Science. 2024. PMID: 38935715
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: A primer.
Scoles DR, Minikel EV, Pulst SM. Scoles DR, et al. Among authors: minikel ev. Neurol Genet. 2019 Apr 1;5(2):e323. doi: 10.1212/NXG.0000000000000323. eCollection 2019 Apr. Neurol Genet. 2019. PMID: 31119194 Free PMC article. Review.
ClinVar data parsing.
Zhang X, Minikel EV, O'Donnell-Luria AH, MacArthur DG, Ware JS, Weisburd B. Zhang X, et al. Among authors: minikel ev. Wellcome Open Res. 2017 May 23;2:33. doi: 10.12688/wellcomeopenres.11640.1. eCollection 2017. Wellcome Open Res. 2017. PMID: 28630944 Free PMC article.
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. Update in: Neurology. 2024 Jul 23;103(2):e209506. doi: 10.1212/WNL.0000000000209506. PMID: 38196583 Free PMC article. Updated. Preprint.
44 results