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Page 1
Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia.
Rezayee F, Eisfeldt J, Skaftason A, Öfverholm I, Sayyab S, Syvänen AC, Maqbool K, Lilljebjörn H, Johansson B, Olsson-Arvidsson L, Pietras CO, Staffas A, Palmqvist L, Fioretos T, Cavelier L, Fogelstrand L, Nordlund J, Wirta V, Rosenquist R, Barbany G. Rezayee F, et al. Among authors: wirta v. Front Oncol. 2023 Aug 14;13:1217712. doi: 10.3389/fonc.2023.1217712. eCollection 2023. Front Oncol. 2023. PMID: 37664045 Free PMC article.
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.
Nazaryan-Petersen L, Eisfeldt J, Pettersson M, Lundin J, Nilsson D, Wincent J, Lieden A, Lovmar L, Ottosson J, Gacic J, Mäkitie O, Nordgren A, Vezzi F, Wirta V, Käller M, Hjortshøj TD, Jespersgaard C, Houssari R, Pignata L, Bak M, Tommerup N, Lundberg ES, Tümer Z, Lindstrand A. Nazaryan-Petersen L, et al. Among authors: wirta v. PLoS Genet. 2018 Nov 12;14(11):e1007780. doi: 10.1371/journal.pgen.1007780. eCollection 2018 Nov. PLoS Genet. 2018. PMID: 30419018 Free PMC article.
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: wirta v. Genome Med. 2019 Nov 7;11(1):68. doi: 10.1186/s13073-019-0675-1. Genome Med. 2019. PMID: 31694722 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: wirta v. BMC Bioinformatics. 2020 Jul 1;21(1):273. doi: 10.1186/s12859-020-03609-z. BMC Bioinformatics. 2020. PMID: 32611382 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. Among authors: wirta v. Genome Med. 2021 Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5. Genome Med. 2021. PMID: 33726816 Free PMC article.
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: wirta v. 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.
Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany.
Stenzinger A, Edsjö A, Ploeger C, Friedman M, Fröhling S, Wirta V, Seufferlein T, Botling J, Duyster J, Akhras M, Thimme R, Fioretos T, Bitzer M, Cavelier L, Schirmacher P, Malek N, Rosenquist R; GMS working group and ZPM working group. Stenzinger A, et al. Among authors: wirta v. Semin Cancer Biol. 2022 Sep;84:242-254. doi: 10.1016/j.semcancer.2021.05.026. Epub 2021 May 24. Semin Cancer Biol. 2022. PMID: 34033893 Review.
A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias.
Berglund E, Barbany G, Orsmark-Pietras C, Fogelstrand L, Abrahamsson J, Golovleva I, Hallböök H, Höglund M, Lazarevic V, Levin LÅ, Nordlund J, Norèn-Nyström U, Palle J, Thangavelu T, Palmqvist L, Wirta V, Cavelier L, Fioretos T, Rosenquist R. Berglund E, et al. Among authors: wirta v. Front Med (Lausanne). 2022 Mar 24;9:842507. doi: 10.3389/fmed.2022.842507. eCollection 2022. Front Med (Lausanne). 2022. PMID: 35402448 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: wirta v. Nat Med. 2022 Oct;28(10):1980-1982. doi: 10.1038/s41591-022-01963-4. Nat Med. 2022. PMID: 36123428 No abstract available.
45 results