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Direct-to-consumer genetic testing.
Horton R, Crawford G, Freeman L, Fenwick A, Wright CF, Lucassen A. Horton R, et al. Among authors: wright cf. BMJ. 2019 Oct 16;367:l5688. doi: 10.1136/bmj.l5688. BMJ. 2019. PMID: 31619392 Free PMC article. No abstract available.
Quantifying the contribution of recessive coding variation to developmental disorders.
Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study. Martin HC, et al. Among authors: wright m, wright cf. Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8. Science. 2018. PMID: 30409806 Free PMC article.
Genomic variant sharing: a position statement.
Wright CF, Ware JS, Lucassen AM, Hall A, Middleton A, Rahman N, Ellard S, Firth HV. Wright CF, et al. Wellcome Open Res. 2019 Feb 5;4:22. doi: 10.12688/wellcomeopenres.15090.2. eCollection 2019. Wellcome Open Res. 2019. PMID: 31886409 Free PMC article.
Population screening requires robust evidence-genomics is no exception.
Turnbull C, Firth HV, Wilkie AOM, Newman W, Raymond FL, Tomlinson I, Lachmann R, Wright CF, Wordsworth S, George A, McCartney M, Lucassen A. Turnbull C, et al. Among authors: wright cf. Lancet. 2024 Feb 10;403(10426):583-586. doi: 10.1016/S0140-6736(23)02295-X. Epub 2023 Dec 6. Lancet. 2024. PMID: 38070525 Review. No abstract available.
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T; INTERVAL Study; Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J; UK10K Consortium; Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD; Deciphering Developmental Disorders Study; Hurles ME. Sifrim A, et al. Among authors: wright m, wright cf. Nat Genet. 2016 Sep;48(9):1060-5. doi: 10.1038/ng.3627. Epub 2016 Aug 1. Nat Genet. 2016. PMID: 27479907 Free PMC article.
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
Wright CF, McRae JF, Clayton S, Gallone G, Aitken S, FitzGerald TW, Jones P, Prigmore E, Rajan D, Lord J, Sifrim A, Kelsell R, Parker MJ, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD Study. Wright CF, et al. Genet Med. 2018 Oct;20(10):1216-1223. doi: 10.1038/gim.2017.246. Epub 2018 Jan 11. Genet Med. 2018. PMID: 29323667 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.
173 results