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The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
DiStefano MT, Goehringer S, Babb L, Alkuraya FS, Amberger J, Amin M, Austin-Tse C, Balzotti M, Berg JS, Birney E, Bocchini C, Bruford EA, Coffey AJ, Collins H, Cunningham F, Daugherty LC, Einhorn Y, Firth HV, Fitzpatrick DR, Foulger RE, Goldstein J, Hamosh A, Hurles MR, Leigh SE, Leong IUS, Maddirevula S, Martin CL, McDonagh EM, Olry A, Puzriakova A, Radtke K, Ramos EM, Rath A, Riggs ER, Roberts AM, Rodwell C, Snow C, Stark Z, Tahiliani J, Tweedie S, Ware JS, Weller P, Williams E, Wright CF, Yates TM, Rehm HL. DiStefano MT, et al. Among authors: wright cf. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4. Genet Med. 2022. PMID: 35507016 Free PMC article.
Policy challenges of clinical genome sequencing.
Wright CF, Middleton A, Burton H, Cunningham F, Humphries SE, Hurst J, Birney E, Firth HV. Wright CF, et al. BMJ. 2013 Nov 22;347:f6845. doi: 10.1136/bmj.f6845. BMJ. 2013. PMID: 24270507 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. 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: wright cf. 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.
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: wright cf. 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.
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, Hobson E, Jones WD, Joss S, King D, Klena N, Kumar A, Lees M, Lelliott C, Lord J, McMullan D, O'Regan M, Osio D, Piombo V, Prigmore E, Rajan D, Rosser E, Sifrim A, Smith A, Swaminathan GJ, Turnpenny P, Whitworth J, Wright CF, Firth HV, Barrett JC, Lo CW, FitzPatrick DR, Hurles ME; DDD study. Akawi N, et al. Among authors: wright cf. Nat Genet. 2015 Nov;47(11):1363-9. doi: 10.1038/ng.3410. Epub 2015 Oct 5. Nat Genet. 2015. PMID: 26437029 Free PMC article.
174 results