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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. 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.
An investigation of the clinical impact and therapeutic relevance of a DNA damage immune response (DDIR) signature in patients with advanced gastroesophageal adenocarcinoma.
Baxter MA, Spender LC, Cairns D, Walsh S, Oparka R, Porter RJ, Bray S, Skinner G, King S, Turbitt J, Collinson D, Miedzybrodzka ZH, Jellema G, Logan G, Kennedy RD, Turkington RC, McLean MH, Swinson D, Grabsch HI, Lord S, Seymour MJ, Hall PS, Petty RD. Baxter MA, et al. Among authors: miedzybrodzka zh. ESMO Open. 2024 May;9(5):103450. doi: 10.1016/j.esmoop.2024.103450. Epub 2024 May 13. ESMO Open. 2024. PMID: 38744099 Free PMC article. Clinical Trial.
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.
Yang X, Mooij TM, Leslie G, Ficorella L, Andrieu N, Kast K, Singer CF, Jakubowska A, van Gils CH, Tan YY, Engel C, Adank MA, van Asperen CJ, Ausems MGEM, Berthet P; EMBRACE collaborators; Collee MJ, Cook JA, Eason J, Spaendonck-Zwarts KYV, Evans DG, Gómez García EB, Hanson H, Izatt L, Kemp Z, Lalloo F, Lasset C, Lesueur F, Musgrave H, Nambot S, Noguès C, Oosterwijk JC, Stoppa-Lyonnet D, Tischkowitz M, Tripathi V, Wevers MR, Zhao E, van Leeuwen FE, Schmidt MK, Easton DF, Rookus MA, Antoniou AC. Yang X, et al. J Med Genet. 2024 Jun 4:jmg-2024-109943. doi: 10.1136/jmg-2024-109943. Online ahead of print. J Med Genet. 2024. PMID: 38834293 Free article.
Safety and efficacy of laquinimod for Huntington's disease (LEGATO-HD): a multicentre, randomised, double-blind, placebo-controlled, phase 2 study.
Reilmann R, Anderson KE, Feigin A, Tabrizi SJ, Leavitt BR, Stout JC, Piccini P, Schubert R, Loupe P, Wickenberg A, Borowsky B, Rynkowski G, Volkinshtein R, Li T, Savola JM, Hayden M, Gordon MF; LEGATO-HD Study Group. Reilmann R, et al. Lancet Neurol. 2024 Mar;23(3):243-255. doi: 10.1016/S1474-4422(23)00454-4. Epub 2024 Jan 24. Lancet Neurol. 2024. PMID: 38280392 Clinical Trial.
Tominersen in Adults with Manifest Huntington's Disease.
McColgan P, Thobhani A, Boak L, Schobel SA, Nicotra A, Palermo G, Trundell D, Zhou J, Schlegel V, Sanwald Ducray P, Hawellek DJ, Dorn J, Simillion C, Lindemann M, Wheelock V, Durr A, Anderson KE, Long JD, Wild EJ, Landwehrmeyer GB, Leavitt BR, Tabrizi SJ, Doody R; GENERATION HD1 Investigators. McColgan P, et al. N Engl J Med. 2023 Dec 7;389(23):2203-2205. doi: 10.1056/NEJMc2300400. N Engl J Med. 2023. PMID: 38055260 No abstract available.
181 results