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

Year Number of Results
2010 1
2011 2
2012 3
2013 2
2014 4
2015 1
2016 1
2018 1
2019 3
2020 3
2021 5
2022 2
2023 1
2024 1

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29 results

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Page 1
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Lehtonen J, Sulonen AM, Almusa H, Lehtokari VL, Johari M, Palva A, Hakonen AH, Wartiovaara K, Lehesjoki AE, Udd B, Wallgren-Pettersson C, Pelin K, Savarese M, Saarela J. Lehtonen J, et al. Among authors: almusa h. Sci Rep. 2024 Feb 21;14(1):4306. doi: 10.1038/s41598-024-54866-4. Sci Rep. 2024. PMID: 38383731 Free PMC article.
Mitochondrial genome-wide analysis of nuclear DNA methylation quantitative trait loci.
Laaksonen J, Mishra PP, Seppälä I, Raitoharju E, Marttila S, Mononen N, Lyytikäinen LP, Kleber ME, Delgado GE, Lepistö M, Almusa H, Ellonen P, Lorkowski S, März W, Hutri-Kähönen N, Raitakari O, Kähönen M, Salonen JT, Lehtimäki T. Laaksonen J, et al. Among authors: almusa h. Hum Mol Genet. 2022 May 19;31(10):1720-1732. doi: 10.1093/hmg/ddab339. Hum Mol Genet. 2022. PMID: 35077545 Free PMC article.
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
Kaustio M, Nayebzadeh N, Hinttala R, Tapiainen T, Åström P, Mamia K, Pernaa N, Lehtonen J, Glumoff V, Rahikkala E, Honkila M, Olsén P, Hassinen A, Polso M, Al Sukaiti N, Al Shekaili J, Al Kindi M, Al Hashmi N, Almusa H, Bulanova D, Haapaniemi E, Chen P, Suo-Palosaari M, Vieira P, Tuominen H, Kokkonen H, Al Macki N, Al Habsi H, Löppönen T, Rantala H, Pietiäinen V, Zhang SY, Renko M, Hautala T, Al Farsi T, Uusimaa J, Saarela J. Kaustio M, et al. Among authors: almusa h. J Allergy Clin Immunol. 2021 Aug;148(2):599-611. doi: 10.1016/j.jaci.2020.12.656. Epub 2021 Mar 1. J Allergy Clin Immunol. 2021. PMID: 33662367 Free article. Clinical Trial.
Author Correction: Clonal hematopoiesis in patients with rheumatoid arthritis.
Savola P, Lundgren S, Keränen MAI, Almusa H, Ellonen P, Leirisalo-Repo M, Kelkka T, Mustjoki S. Savola P, et al. Among authors: almusa h. Blood Cancer J. 2021 Feb 17;11(2):36. doi: 10.1038/s41408-021-00427-1. Blood Cancer J. 2021. PMID: 33597539 Free PMC article. No abstract available.
Examining the effect of mitochondrial DNA variants on blood pressure in two Finnish cohorts.
Laaksonen J, Mishra PP, Seppälä I, Lyytikäinen LP, Raitoharju E, Mononen N, Lepistö M, Almusa H, Ellonen P, Hutri-Kähönen N, Juonala M, Raitakari O, Kähönen M, Salonen JT, Lehtimäki T. Laaksonen J, et al. Among authors: almusa h. Sci Rep. 2021 Jan 12;11(1):611. doi: 10.1038/s41598-020-79931-6. Sci Rep. 2021. PMID: 33436758 Free PMC article.
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
Hakonen AH, Lehtonen J, Kivirikko S, Keski-Filppula R, Moilanen J, Kivisaari R, Almusa H, Jakkula E, Saarela J, Avela K, Aittomäki K. Hakonen AH, et al. Among authors: almusa h. Am J Med Genet A. 2020 Nov;182(11):2605-2610. doi: 10.1002/ajmg.a.61836. Epub 2020 Sep 9. Am J Med Genet A. 2020. PMID: 32902138
29 results