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Scientific Business Abstracts of the 113th Annual Meeting of the Association of Physicians of Great Britain and Ireland.
Cacciottolo TM, Perikari A, van der Klaauw A, Henning E, Stadler LKJ, Keogh J, Farooqi IS, Tenin G, Keavney B, Ryan E, Budd R, Bewley M, Coelho P, Rumsey W, Sanchez Y, McCafferty J, Dockrell D, Walmsley S, Whyte M, Liu Y, Choy MK, Tenin G, Abraham S, Black G, Keavney B, Ford T, Stanley B, Good R, Rocchiccioli P, McEntegart M, Watkins S, Eteiba H, Shaukat A, Lindsay M, Robertson K, Hood S, McGeoch R, McDade R, Sidik N, McCartney P, Corcoran D, Collison D, Rush C, McConnachie A, Touyz R, Oldroyd K, Berry C, Gazdagh G, Diver L, Marshall J, McGowan R, Ahmed F; DDD Study; Tobias E, Curtis E, Parsons C, Maslin K, D'Angelo S, Moon R, Crozier S, Gossiel F, Bishop N, Kennedy S, Papageorghiou A, Fraser R, Gandhi S, Prentice A, Inskip H, Godfrey K, Schoenmakers I, Javaid MK, Eastell R, Cooper C, Harvey N, Watt ER, Howden A, Mirchandani A, Coelho P, Hukelmann JL, Sadiku P, Plant TM, Cantrell DA, Whyte MKB, Walmsley SR, Mordi I, Forteath C, Wong A, Mohan M, Palmer C, Doney A, Rena G, Lang C, Gray EH, Azarian S, Riva A, Edwards H, McPhail MJW, Williams R, Chokshi S, Patel VC, Edwards LA, Page D, Miossec M, Williams S, Monaghan R, Fotiou E; CHANGE Study Collaborators, CheartED Study Collaborator… See abstract for full author list ➔ Cacciottolo TM, et al. QJM. 2019 Sep 1;112(9):724-729. doi: 10.1093/qjmed/hcz175. QJM. 2019. PMID: 31505685 No abstract available.
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study; Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 Free PMC article.
The contribution of X-linked coding variation to severe developmental disorders.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J; Deciphering Developmental Disorders Study; Wright CF, FitzPatrick DR, Firth HV, Hurles ME. Martin HC, et al. Nat Commun. 2021 Jan 27;12(1):627. doi: 10.1038/s41467-020-20852-3. Nat Commun. 2021. PMID: 33504798 Free PMC article.
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.
Hocking LJ, Andrews C, Armstrong C, Ansari M, Baty D, Berg J, Bradley T, Clark C, Diamond A, Doherty J, Lampe A, McGowan R, Moore DJ, O'Sullivan D, Purvis A, Santoyo-Lopez J, Westwood P, Abbott M, Williams N; Scottish Genomes Partnership; Aitman TJ, Miedzybrodzka Z. Hocking LJ, et al. Eur J Hum Genet. 2023 Feb;31(2):231-238. doi: 10.1038/s41431-022-01226-3. Epub 2022 Dec 6. Eur J Hum Genet. 2023. PMID: 36474026 Free PMC article.
57 results