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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Sanchis-Juan A, Megy K, Stephens J, Armirola Ricaurte C, Dewhurst E, Low K, French CE, Grozeva D, Stirrups K, Erwood M, McTague A, Penkett CJ, Shamardina O, Tuna S, Daugherty LC, Gleadall N, Duarte ST, Hedrera-Fernández A, Vogt J, Ambegaonkar G, Chitre M, Josifova D, Kurian MA, Parker A, Rankin J, Reid E, Wakeling E, Wassmer E, Woods CG; NIHR BioResource; Raymond FL, Carss KJ. Sanchis-Juan A, et al. Among authors: reid e. Am J Hum Genet. 2023 Aug 3;110(8):1343-1355. doi: 10.1016/j.ajhg.2023.07.007. Am J Hum Genet. 2023. PMID: 37541188 Free PMC article.
Ataxia and spastic paraplegia in mitochondrial disease.
Synofzik M, Rugarli E, Reid E, Schüle R. Synofzik M, et al. Among authors: reid e. Handb Clin Neurol. 2023;194:79-98. doi: 10.1016/B978-0-12-821751-1.00009-9. Handb Clin Neurol. 2023. PMID: 36813322 Review.
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M; Solve-RD DITF-ITHACA; Solve-RD DITF-Euro-NMD; Solve-RD DITF-RND; Solve-RD DITF-EpiCARE; Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A. Steyaert W, et al. Among authors: reid e. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
Patient-specific tissue engineered vascular graft for aortic arch reconstruction.
Hayashi H, Contento J, Matsushita H, Mass P, Cleveland V, Aslan S, Dave A, Santos RD, Zhu A, Reid E, Watanabe T, Lee N, Dunn T, Siddiqi U, Nurminsky K, Nguyen V, Kawaji K, Huddle J, Pocivavsek L, Johnson J, Fuge M, Loke YH, Krieger A, Olivieri L, Hibino N. Hayashi H, et al. Among authors: reid e. JTCVS Open. 2024 Feb 27;18:209-220. doi: 10.1016/j.xjon.2024.02.012. eCollection 2024 Apr. JTCVS Open. 2024. PMID: 38690440 Free PMC article.
The state of emergency medicine in Greece: at critical momentum.
Tsiftsis D, Ulrich A, Notas G, Patrikakou A, Reid E. Tsiftsis D, et al. Among authors: reid e. Int J Emerg Med. 2024 Apr 3;17(1):46. doi: 10.1186/s12245-024-00622-4. Int J Emerg Med. 2024. PMID: 38566013 Free PMC article.
626 results