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Year Number of Results
2014 2
2015 3
2016 1
2017 4
2019 1
2020 2
2021 5
2022 2
2024 0

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18 results

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Page 1
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Among authors: ferraro nm. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease.
de Goede OM, Nachun DC, Ferraro NM, Gloudemans MJ, Rao AS, Smail C, Eulalio TY, Aguet F, Ng B, Xu J, Barbeira AN, Castel SE, Kim-Hellmuth S, Park Y, Scott AJ, Strober BJ; GTEx Consortium; Brown CD, Wen X, Hall IM, Battle A, Lappalainen T, Im HK, Ardlie KG, Mostafavi S, Quertermous T, Kirkegaard K, Montgomery SB. de Goede OM, et al. Among authors: ferraro nm. Cell. 2021 May 13;184(10):2633-2648.e19. doi: 10.1016/j.cell.2021.03.050. Epub 2021 Apr 16. Cell. 2021. PMID: 33864768 Free PMC article.
Integration of rare expression outlier-associated variants improves polygenic risk prediction.
Smail C, Ferraro NM, Hui Q, Durrant MG, Aguirre M, Tanigawa Y, Keever-Keigher MR, Rao AS, Justesen JM, Li X, Gloudemans MJ, Assimes TL, Kooperberg C, Reiner AP, Huang J, O'Donnell CJ, Sun YV; Million Veteran Program; Rivas MA, Montgomery SB. Smail C, et al. Among authors: ferraro nm. Am J Hum Genet. 2022 Jun 2;109(6):1055-1064. doi: 10.1016/j.ajhg.2022.04.015. Epub 2022 May 18. Am J Hum Genet. 2022. PMID: 35588732 Free PMC article.
Nonsense-mediated decay is highly stable across individuals and tissues.
Teran NA, Nachun DC, Eulalio T, Ferraro NM, Smail C, Rivas MA, Montgomery SB. Teran NA, et al. Among authors: ferraro nm. Am J Hum Genet. 2021 Aug 5;108(8):1401-1408. doi: 10.1016/j.ajhg.2021.06.008. Epub 2021 Jul 2. Am J Hum Genet. 2021. PMID: 34216550 Free PMC article.
Transcriptomic signatures across human tissues identify functional rare genetic variation.
Ferraro NM, Strober BJ, Einson J, Abell NS, Aguet F, Barbeira AN, Brandt M, Bucan M, Castel SE, Davis JR, Greenwald E, Hess GT, Hilliard AT, Kember RL, Kotis B, Park Y, Peloso G, Ramdas S, Scott AJ, Smail C, Tsang EK, Zekavat SM, Ziosi M, Aradhana; TOPMed Lipids Working Group; Ardlie KG, Assimes TL, Bassik MC, Brown CD, Correa A, Hall I, Im HK, Li X, Natarajan P; GTEx Consortium; Lappalainen T, Mohammadi P, Montgomery SB, Battle A. Ferraro NM, et al. Science. 2020 Sep 11;369(6509):eaaz5900. doi: 10.1126/science.aaz5900. Epub 2020 Sep 10. Science. 2020. PMID: 32913073 Free PMC article.
Ideal MHD Limited Electron Temperature in Spherical Tokamaks.
Jardin SC, Ferraro NM, Guttenfelder W, Kaye SM, Munaretto S. Jardin SC, et al. Among authors: ferraro nm. Phys Rev Lett. 2022 Jun 17;128(24):245001. doi: 10.1103/PhysRevLett.128.245001. Phys Rev Lett. 2022. PMID: 35776465
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics.
Bonder MJ, Smail C, Gloudemans MJ, Frésard L, Jakubosky D, D'Antonio M, Li X, Ferraro NM, Carcamo-Orive I, Mirauta B, Seaton DD, Cai N, Vakili D, Horta D, Zhao C, Zastrow DB, Bonner DE; HipSci Consortium; iPSCORE consortium; Undiagnosed Diseases Network; PhLiPS consortium; Wheeler MT, Kilpinen H, Knowles JW, Smith EN, Frazer KA, Montgomery SB, Stegle O. Bonder MJ, et al. Among authors: ferraro nm. Nat Genet. 2021 Mar;53(3):313-321. doi: 10.1038/s41588-021-00800-7. Epub 2021 Mar 4. Nat Genet. 2021. PMID: 33664507 Free PMC article.
18 results