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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 4
2016 3
2017 1
2018 1
2019 2
2020 4
2021 5
2022 0
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29 results
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Page 1
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand A, Eisfeldt J, Pettersson M, Carvalho CMB, Kvarnung M, Grigelioniene G, Anderlid BM, Bjerin O, Gustavsson P, Hammarsjö A, Georgii-Hemming P, Iwarsson E, Johansson-Soller M, Lagerstedt-Robinson K, Lieden A, Magnusson M, Martin M, Malmgren H, Nordenskjöld M, Norling A, Sahlin E, Stranneheim H, Tham E, Wincent J, Ygberg S, Wedell A, Wirta V, Nordgren A, Lundin J, Nilsson D. Lindstrand A, et al. Among authors: stranneheim h. Genome Med. 2019 Nov 7;11(1):68. doi: 10.1186/s13073-019-0675-1. Genome Med. 2019. PMID: 31694722 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.
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.
Loqusdb: added value of an observations database of local genomic variation.
Magnusson M, Eisfeldt J, Nilsson D, Rosenbaum A, Wirta V, Lindstrand A, Wedell A, Stranneheim H. Magnusson M, et al. Among authors: stranneheim h. BMC Bioinformatics. 2020 Jul 1;21(1):273. doi: 10.1186/s12859-020-03609-z. BMC Bioinformatics. 2020. PMID: 32611382 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.
29 results