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Page 1
A roadmap for restoring trust in Big Data.
Lawler M, Morris AD, Sullivan R, Birney E, Middleton A, Makaroff L, Knoppers BM, Horgan D, Eggermont A. Lawler M, et al. Among authors: middleton a. Lancet Oncol. 2018 Aug;19(8):1014-1015. doi: 10.1016/S1470-2045(18)30425-X. Lancet Oncol. 2018. PMID: 30102210 No abstract available.
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD study. Wright CF, et al. Among authors: middleton a. Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17. Lancet. 2015. PMID: 25529582 Free PMC article.
GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Rehm HL, Page AJH, Smith L, Adams JB, Alterovitz G, Babb LJ, Barkley MP, Baudis M, Beauvais MJS, Beck T, Beckmann JS, Beltran S, Bernick D, Bernier A, Bonfield JK, Boughtwood TF, Bourque G, Bowers SR, Brookes AJ, Brudno M, Brush MH, Bujold D, Burdett T, Buske OJ, Cabili MN, Cameron DL, Carroll RJ, Casas-Silva E, Chakravarty D, Chaudhari BP, Chen SH, Cherry JM, Chung J, Cline M, Clissold HL, Cook-Deegan RM, Courtot M, Cunningham F, Cupak M, Davies RM, Denisko D, Doerr MJ, Dolman LI, Dove ES, Dursi LJ, Dyke SOM, Eddy JA, Eilbeck K, Ellrott KP, Fairley S, Fakhro KA, Firth HV, Fitzsimons MS, Fiume M, Flicek P, Fore IM, Freeberg MA, Freimuth RR, Fromont LA, Fuerth J, Gaff CL, Gan W, Ghanaim EM, Glazer D, Green RC, Griffith M, Griffith OL, Grossman RL, Groza T, Guidry Auvil JM, Guigó R, Gupta D, Haendel MA, Hamosh A, Hansen DP, Hart RK, Hartley DM, Haussler D, Hendricks-Sturrup RM, Ho CWL, Hobb AE, Hoffman MM, Hofmann OM, Holub P, Hsu JS, Hubaux JP, Hunt SE, Husami A, Jacobsen JO, Jamuar SS, Janes EL, Jeanson F, Jené A, Johns AL, Joly Y, Jones SJM, Kanitz A, Kato K, Keane TM, Kekesi-Lafrance K, Kelleher J, Kerry G, Khor SS, Knoppers BM, Konopko MA, Kosaki K, Kuba M, Lawson J, Leinonen R… See abstract for full author list ➔ Rehm HL, et al. Among authors: middleton a. Cell Genom. 2021 Nov 10;1(2):100029. doi: 10.1016/j.xgen.2021.100029. Cell Genom. 2021. PMID: 35072136 Free PMC article.
Society and personal genome data.
Middleton A. Middleton A. Hum Mol Genet. 2018 May 1;27(R1):R8-R13. doi: 10.1093/hmg/ddy084. Hum Mol Genet. 2018. PMID: 29522190 Free PMC article. Review.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia.
Milne R, Morley KI, Howard H, Niemiec E, Nicol D, Critchley C, Prainsack B, Vears D, Smith J, Steed C, Bevan P, Atutornu J, Farley L, Goodhand P, Thorogood A, Kleiderman E, Middleton A; Participant Values Work Stream of the Global Alliance for Genomics and Health. Milne R, et al. Among authors: middleton a. Hum Genet. 2019 Dec;138(11-12):1237-1246. doi: 10.1007/s00439-019-02062-0. Epub 2019 Sep 17. Hum Genet. 2019. PMID: 31531740 Free PMC article.
Socialising the genome.
Parry V, Middleton A. Parry V, et al. Among authors: middleton a. Lancet. 2017 Apr 22;389(10079):1603-1604. doi: 10.1016/S0140-6736(17)31011-5. Lancet. 2017. PMID: 28443545 No abstract available.
Attitudes of publics who are unwilling to donate DNA data for research.
Middleton A, Milne R, Thorogood A, Kleiderman E, Niemiec E, Prainsack B, Farley L, Bevan P, Steed C, Smith J, Vears D, Atutornu J, Howard HC, Morley KI. Middleton A, et al. Eur J Med Genet. 2019 May;62(5):316-323. doi: 10.1016/j.ejmg.2018.11.014. Epub 2018 Nov 23. Eur J Med Genet. 2019. PMID: 30476628 Free PMC article.
Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?
Middleton A, Milne R, Almarri MA, Anwer S, Atutornu J, Baranova EE, Bevan P, Cerezo M, Cong Y, Critchley C, Fernow J, Goodhand P, Hasan Q, Hibino A, Houeland G, Howard HC, Hussain SZ, Malmgren CI, Izhevskaya VL, Jędrzejak A, Jinhong C, Kimura M, Kleiderman E, Leach B, Liu K, Mascalzoni D, Mendes Á, Minari J, Wang N, Nicol D, Niemiec E, Patch C, Pollard J, Prainsack B, Rivière M, Robarts L, Roberts J, Romano V, Sheerah HA, Smith J, Soulier A, Steed C, Stefànsdóttir V, Tandre C, Thorogood A, Voigt TH, West AV, Yoshizawa G, Morley KI. Middleton A, et al. Am J Hum Genet. 2020 Oct 1;107(4):743-752. doi: 10.1016/j.ajhg.2020.08.023. Epub 2020 Sep 17. Am J Hum Genet. 2020. PMID: 32946764 Free PMC article.
APPLaUD: access for patients and participants to individual level uninterpreted genomic data.
Thorogood A, Bobe J, Prainsack B, Middleton A, Scott E, Nelson S, Corpas M, Bonhomme N, Rodriguez LL, Murtagh M, Kleiderman E; Participant Values Task Team of the Global Alliance for Genomics and Health. Thorogood A, et al. Among authors: middleton a. Hum Genomics. 2018 Feb 17;12(1):7. doi: 10.1186/s40246-018-0139-5. Hum Genomics. 2018. PMID: 29454384 Free PMC article. Review.
580 results