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Year Number of Results
2018 8
2019 8
2020 9
2021 1
2024 0

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23 results

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Page 1
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.
Park J, Lucas AM, Zhang X, Chaudhary K, Cho JH, Nadkarni G, Dobbyn A, Chittoor G, Josyula NS, Katz N, Breeyear JH, Ahmadmehrabi S, Drivas TG, Chavali VRM, Fasolino M, Sawada H, Daugherty A, Li Y, Zhang C, Bradford Y, Weaver J, Verma A, Judy RL, Kember RL, Overton JD, Reid JG, Ferreira MAR, Li AH, Baras A, LeMaire SA, Shen YH, Naji A, Kaestner KH, Vahedi G, Edwards TL, Chen J, Damrauer SM, Justice AE, Do R, Ritchie MD, Rader DJ. Park J, et al. Nat Med. 2021 Jan;27(1):66-72. doi: 10.1038/s41591-020-1133-8. Epub 2021 Jan 11. Nat Med. 2021. PMID: 33432171 Free PMC article.
PKC downregulation upon rapamycin treatment attenuates mitochondrial disease.
Martin-Perez M, Grillo AS, Ito TK, Valente AS, Han J, Entwisle SW, Huang HZ, Kim D, Yajima M, Kaeberlein M, Villén J. Martin-Perez M, et al. Nat Metab. 2020 Dec;2(12):1472-1481. doi: 10.1038/s42255-020-00319-x. Epub 2020 Dec 14. Nat Metab. 2020. PMID: 33324011 Free PMC article.
The UCSC SARS-CoV-2 Genome Browser.
Fernandes JD, Hinrichs AS, Clawson H, Gonzalez JN, Lee BT, Nassar LR, Raney BJ, Rosenbloom KR, Nerli S, Rao AA, Schmelter D, Fyfe A, Maulding N, Zweig AS, Lowe TM, Ares M Jr, Corbet-Detig R, Kent WJ, Haussler D, Haeussler M. Fernandes JD, et al. Nat Genet. 2020 Oct;52(10):991-998. doi: 10.1038/s41588-020-0700-8. Nat Genet. 2020. PMID: 32908258 Free PMC article.
Effects of a patient-derived de novo coding alteration of CACNA1I in mice connect a schizophrenia risk gene with sleep spindle deficits.
Ghoshal A, Uygun DS, Yang L, McNally JM, Lopez-Huerta VG, Arias-Garcia MA, Baez-Nieto D, Allen A, Fitzgerald M, Choi S, Zhang Q, Hope JM, Yan K, Mao X, Nicholson TB, Imaizumi K, Fu Z, Feng G, Brown RE, Strecker RE, Purcell SM, Pan JQ. Ghoshal A, et al. Transl Psychiatry. 2020 Jan 23;10(1):29. doi: 10.1038/s41398-020-0685-1. Transl Psychiatry. 2020. PMID: 32066662 Free PMC article.
Local Ancestry Inference in Large Pedigrees.
Wang H, Sofer T, Zhang X, Elston RC, Redline S, Zhu X. Wang H, et al. Sci Rep. 2020 Jan 13;10(1):189. doi: 10.1038/s41598-019-57039-w. Sci Rep. 2020. PMID: 31932708 Free PMC article.
Orchestrating single-cell analysis with Bioconductor.
Amezquita RA, Lun ATL, Becht E, Carey VJ, Carpp LN, Geistlinger L, Marini F, Rue-Albrecht K, Risso D, Soneson C, Waldron L, Pagès H, Smith ML, Huber W, Morgan M, Gottardo R, Hicks SC. Amezquita RA, et al. Nat Methods. 2020 Feb;17(2):137-145. doi: 10.1038/s41592-019-0654-x. Epub 2019 Dec 2. Nat Methods. 2020. PMID: 31792435 Free PMC article. Review.
23 results