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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 2
2010 3
2011 2
2012 3
2014 2
2015 3
2016 2
2017 1
2018 1
2019 2
2020 4
2021 5
2022 2
2023 1
2024 0

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31 results

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Page 1
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.
Stepping stones in DNA sequencing.
Stranneheim H, Lundeberg J. Stranneheim H, et al. Biotechnol J. 2012 Sep;7(9):1063-73. doi: 10.1002/biot.201200153. Epub 2012 Aug 8. Biotechnol J. 2012. PMID: 22887891 Free PMC article. Review.
Classification of DNA sequences using Bloom filters.
Stranneheim H, Käller M, Allander T, Andersson B, Arvestad L, Lundeberg J. Stranneheim H, et al. Bioinformatics. 2010 Jul 1;26(13):1595-600. doi: 10.1093/bioinformatics/btq230. Epub 2010 May 13. Bioinformatics. 2010. PMID: 20472541 Free PMC article.
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.
SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation.
Calvo-Garrido J, Maffezzini C, Schober FA, Clemente P, Uhlin E, Kele M, Stranneheim H, Lesko N, Bruhn H, Svenningsson P, Falk A, Wedell A, Freyer C, Wredenberg A. Calvo-Garrido J, et al. Among authors: stranneheim h. Stem Cell Reports. 2019 Apr 9;12(4):696-711. doi: 10.1016/j.stemcr.2019.01.023. Epub 2019 Feb 28. Stem Cell Reports. 2019. PMID: 30827875 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.
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monné M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A. Kishita Y, et al. Among authors: stranneheim h. Am J Hum Genet. 2015 Nov 5;97(5):761-8. doi: 10.1016/j.ajhg.2015.09.013. Epub 2015 Oct 29. Am J Hum Genet. 2015. PMID: 26522469 Free PMC article.
Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations.
Paucar M, Pajak A, Freyer C, Bergendal Å, Döry M, Laffita-Mesa JM, Stranneheim H, Lagerstedt-Robinson K, Savitcheva I, Walker RH, Wedell A, Wredenberg A, Svenningsson P. Paucar M, et al. Among authors: stranneheim h. Neurology. 2018 Oct 9;91(15):710-712. doi: 10.1212/WNL.0000000000006320. Epub 2018 Sep 14. Neurology. 2018. PMID: 30217939 Free PMC article. No abstract available.
31 results