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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. Among authors: middleton a. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
The legacy of language: What we say, and what people hear, when we talk about genomics.
Middleton A, Costa A, Milne R, Patch C, Robarts L, Tomlin B, Danson M, Henriques S, Atutornu J, Aidid U, Boraschi D, Galloway C, Yazmir K, Pettit S, Harcourt T, Connolly A, Li A, Cala J, Lake S, Borra J, Parry V. Middleton A, et al. HGG Adv. 2023 Aug 31;4(4):100231. doi: 10.1016/j.xhgg.2023.100231. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37869565 Free PMC article.
Standards for the care of people with cystic fibrosis; establishing and maintaining health.
Southern KW, Addy C, Bell SC, Bevan A, Borawska U, Brown C, Burgel PR, Button B, Castellani C, Chansard A, Chilvers MA, Davies G, Davies JC, De Boeck K, Declercq D, Doumit M, Drevinek P, Fajac I, Gartner S, Georgiopoulos AM, Gursli S, Gramegna A, Hansen CM, Hug MJ, Lammertyn E, Landau EEC, Langley R, Mayer-Hamblett N, Middleton A, Middleton PG, Mielus M, Morrison L, Munck A, Plant B, Ploeger M, Bertrand DP, Pressler T, Quon BS, Radtke T, Saynor ZL, Shufer I, Smyth AR, Smith C, van Koningsbruggen-Rietschel S. Southern KW, et al. Among authors: middleton a. J Cyst Fibros. 2024 Jan;23(1):12-28. doi: 10.1016/j.jcf.2023.12.002. Epub 2023 Dec 21. J Cyst Fibros. 2024. PMID: 38129255 Free article. Review.
564 results