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Rare variant associations with plasma protein levels in the UK Biobank.
Dhindsa RS, Burren OS, Sun BB, Prins BP, Matelska D, Wheeler E, Mitchell J, Oerton E, Hristova VA, Smith KR, Carss K, Wasilewski S, Harper AR, Paul DS, Fabre MA, Runz H, Viollet C, Challis B, Platt A; AstraZeneca Genomics Initiative; Vitsios D, Ashley EA, Whelan CD, Pangalos MN, Wang Q, Petrovski S. Dhindsa RS, et al. Among authors: ashley ea. Nature. 2023 Oct;622(7982):339-347. doi: 10.1038/s41586-023-06547-x. Epub 2023 Oct 4. Nature. 2023. PMID: 37794183 Free PMC article.
Guidelines for investigating causality of sequence variants in human disease.
MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C. MacArthur DG, et al. Among authors: ashley ea. Nature. 2014 Apr 24;508(7497):469-76. doi: 10.1038/nature13127. Nature. 2014. PMID: 24759409 Free PMC article.
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: ashley ea. 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.
The genetics of human performance.
Kim DS, Wheeler MT, Ashley EA. Kim DS, et al. Among authors: ashley ea. Nat Rev Genet. 2022 Jan;23(1):40-54. doi: 10.1038/s41576-021-00400-5. Epub 2021 Sep 14. Nat Rev Genet. 2022. PMID: 34522035 Review.
Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk.
Turner AW, Hu SS, Mosquera JV, Ma WF, Hodonsky CJ, Wong D, Auguste G, Song Y, Sol-Church K, Farber E, Kundu S, Kundaje A, Lopez NG, Ma L, Ghosh SKB, Onengut-Gumuscu S, Ashley EA, Quertermous T, Finn AV, Leeper NJ, Kovacic JC, Björkegren JLM, Zang C, Miller CL. Turner AW, et al. Among authors: ashley ea. Nat Genet. 2022 Jun;54(6):804-816. doi: 10.1038/s41588-022-01069-0. Epub 2022 May 19. Nat Genet. 2022. PMID: 35590109 Free PMC article.
Author Correction: Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk.
Turner AW, Hu SS, Mosquera JV, Ma WF, Hodonsky CJ, Wong D, Auguste G, Song Y, Sol-Church K, Farber E, Kundu S, Kundaje A, Lopez NG, Ma L, Ghosh SKB, Onengut-Gumuscu S, Ashley EA, Quertermous T, Finn AV, Leeper NJ, Kovacic JC, Björkegren JLM, Zang C, Miller CL. Turner AW, et al. Among authors: ashley ea. Nat Genet. 2022 Aug;54(8):1259. doi: 10.1038/s41588-022-01142-8. Nat Genet. 2022. PMID: 35768727 No abstract available.
537 results