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The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019.
Buniello A, MacArthur JAL, Cerezo M, Harris LW, Hayhurst J, Malangone C, McMahon A, Morales J, Mountjoy E, Sollis E, Suveges D, Vrousgou O, Whetzel PL, Amode R, Guillen JA, Riat HS, Trevanion SJ, Hall P, Junkins H, Flicek P, Burdett T, Hindorff LA, Cunningham F, Parkinson H. Buniello A, et al. Nucleic Acids Res. 2019 Jan 8;47(D1):D1005-D1012. doi: 10.1093/nar/gky1120. Nucleic Acids Res. 2019. PMID: 30445434 Free PMC article.
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.
Ingham NJ, Pearson SA, Vancollie VE, Rook V, Lewis MA, Chen J, Buniello A, Martelletti E, Preite L, Lam CC, Weiss FD, Powis Z, Suwannarat P, Lelliott CJ, Dawson SJ, White JK, Steel KP. Ingham NJ, et al. Among authors: buniello a. PLoS Biol. 2019 Apr 11;17(4):e3000194. doi: 10.1371/journal.pbio.3000194. eCollection 2019 Apr. PLoS Biol. 2019. PMID: 30973865 Free PMC article.
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.
Nyegaard M, Rendtorff ND, Nielsen MS, Corydon TJ, Demontis D, Starnawska A, Hedemand A, Buniello A, Niola F, Overgaard MT, Leal SM, Ahmad W, Wikman FP, Petersen KB, Crüger DG, Oostrik J, Kremer H, Tommerup N, Frödin M, Steel KP, Tranebjærg L, Børglum AD. Nyegaard M, et al. Among authors: buniello a. PLoS Genet. 2015 Jul 21;11(7):e1005386. doi: 10.1371/journal.pgen.1005386. eCollection 2015 Jul. PLoS Genet. 2015. PMID: 26197441 Free PMC article.
A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog.
Morales J, Welter D, Bowler EH, Cerezo M, Harris LW, McMahon AC, Hall P, Junkins HA, Milano A, Hastings E, Malangone C, Buniello A, Burdett T, Flicek P, Parkinson H, Cunningham F, Hindorff LA, MacArthur JAL. Morales J, et al. Among authors: buniello a. Genome Biol. 2018 Feb 15;19(1):21. doi: 10.1186/s13059-018-1396-2. Genome Biol. 2018. PMID: 29448949 Free PMC article.
Exploring regulatory networks of miR-96 in the developing inner ear.
Lewis MA, Buniello A, Hilton JM, Zhu F, Zhang WI, Evans S, van Dongen S, Enright AJ, Steel KP. Lewis MA, et al. Among authors: buniello a. Sci Rep. 2016 Mar 18;6:23363. doi: 10.1038/srep23363. Sci Rep. 2016. PMID: 26988146 Free PMC article.
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