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Empirical research on the ethics of genomic research.
Middleton A, Parker M, Wright CF, Bragin E, Hurles ME; DDD Study. Middleton A, et al. Among authors: hurles me. Am J Med Genet A. 2013 Aug;161A(8):2099-101. doi: 10.1002/ajmg.a.36067. Epub 2013 Jun 27. Am J Med Genet A. 2013. PMID: 23813698 Free PMC article.
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
Grozeva D, Carss K, Spasic-Boskovic O, Parker MJ, Archer H, Firth HV, Park SM, Canham N, Holder SE, Wilson M, Hackett A, Field M, Floyd JA; UK10K Consortium; Hurles M, Raymond FL. Grozeva D, et al. Am J Hum Genet. 2014 Apr 3;94(4):618-24. doi: 10.1016/j.ajhg.2014.03.006. Epub 2014 Mar 27. Am J Hum Genet. 2014. PMID: 24680889 Free PMC article.
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: hurles me. 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.
No expectation to share incidental findings in genomic research.
Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME, Wright CF, Parker M; Deciphering Developmental Disorders Study. Middleton A, et al. Among authors: hurles me. Lancet. 2015 Apr 4;385(9975):1289-90. doi: 10.1016/S0140-6736(14)62119-X. Epub 2014 Dec 17. Lancet. 2015. PMID: 25529584 No abstract available.
Mosaic structural variation in children with developmental disorders.
King DA, Jones WD, Crow YJ, Dominiczak AF, Foster NA, Gaunt TR, Harris J, Hellens SW, Homfray T, Innes J, Jones EA, Joss S, Kulkarni A, Mansour S, Morris AD, Parker MJ, Porteous DJ, Shihab HA, Smith BH, Tatton-Brown K, Tolmie JL, Trzaskowski M, Vasudevan PC, Wakeling E, Wright M, Plomin R, Timpson NJ, Hurles ME; Deciphering Developmental Disorders Study. King DA, et al. Among authors: hurles me. Hum Mol Genet. 2015 May 15;24(10):2733-45. doi: 10.1093/hmg/ddv033. Epub 2015 Jan 29. Hum Mol Genet. 2015. PMID: 25634561 Free PMC article.
Potential research participants support the return of raw sequence data.
Middleton A, Wright CF, Morley KI, Bragin E, Firth HV, Hurles ME, Parker M; DDD study. Middleton A, et al. Among authors: hurles me. J Med Genet. 2015 Aug;52(8):571-4. doi: 10.1136/jmedgenet-2015-103119. Epub 2015 May 20. J Med Genet. 2015. PMID: 25995218 Free PMC article.
283 results