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Implementing precision medicine in a regionally organized healthcare system in Sweden.
Fioretos T, Wirta V, Cavelier L, Berglund E, Friedman M, Akhras M, Botling J, Ehrencrona H, Engstrand L, Helenius G, Fagerqvist T, Gisselsson D, Gruvberger-Saal S, Gyllensten U, Heidenblad M, Höglund K, Jacobsson B, Johansson M, Johansson Å, Soller MJ, Landström M, Larsson P, Levin LÅ, Lindstrand A, Lovmar L, Lyander A, Melin M, Nordgren A, Nordmark G, Mölling P, Palmqvist L, Palmqvist R, Repsilber D, Sikora P, Stenmark B, Söderkvist P, Stranneheim H, Strid T, Wheelock CE, Wadelius M, Wedell A, Edsjö A, Rosenquist R. Fioretos T, et al. Among authors: stranneheim h. Nat Med. 2022 Oct;28(10):1980-1982. doi: 10.1038/s41591-022-01963-4. Nat Med. 2022. PMID: 36123428 No abstract available.
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Hammarsjö A, Pettersson M, Chitayat D, Handa A, Anderlid BM, Bartocci M, Basel D, Batkovskyte D, Beleza-Meireles A, Conner P, Eisfeldt J, Girisha KM, Chung BH, Horemuzova E, Hyodo H, Korņejeva L, Lagerstedt-Robinson K, Lin AE, Magnusson M, Moosa S, Nayak SS, Nilsson D, Ohashi H, Ohashi-Fukuda N, Stranneheim H, Taylan F, Traberg R, Voss U, Wirta V, Nordgren A, Nishimura G, Lindstrand A, Grigelioniene G. Hammarsjö A, et al. Among authors: stranneheim h. J Hum Genet. 2021 Oct;66(10):995-1008. doi: 10.1038/s10038-021-00925-x. Epub 2021 Apr 20. J Hum Genet. 2021. PMID: 33875766 Free PMC article.
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.
Bruhn H, Samuelsson K, Schober FA, Engvall M, Lesko N, Wibom R, Nennesmo I, Calvo-Garrido J, Press R, Stranneheim H, Freyer C, Wedell A, Wredenberg A. Bruhn H, et al. Among authors: stranneheim h. Neurol Genet. 2021 Mar 15;7(2):e566. doi: 10.1212/NXG.0000000000000566. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33732874 Free PMC article.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, Engvall M, Anderlid BM, Arnell H, Johansson CB, Barbaro M, Björck E, Bruhn H, Eisfeldt J, Freyer C, Grigelioniene G, Gustavsson P, Hammarsjö A, Hellström-Pigg M, Iwarsson E, Jemt A, Laaksonen M, Enoksson SL, Malmgren H, Naess K, Nordenskjöld M, Oscarson M, Pettersson M, Rasi C, Rosenbaum A, Sahlin E, Sardh E, Stödberg T, Tesi B, Tham E, Thonberg H, Töhönen V, von Döbeln U, Vassiliou D, Vonlanthen S, Wikström AC, Wincent J, Winqvist O, Wredenberg A, Ygberg S, Zetterström RH, Marits P, Soller MJ, Nordgren A, Wirta V, Lindstrand A, Wedell A. Stranneheim H, et al. Genome Med. 2021 Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5. Genome Med. 2021. PMID: 33726816 Free PMC article.
32 results