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Page 1
Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction.
Lehtonen J, Hakonen AH, Hassinen A, Lurås SI, Kaustio M, Glumoff V, Hinrichsen F, Li W, Sulonen AM, Wickman S, Almusa H, Polso M, Palomäki M, Kivirikko S, Avela K, Heiskanen K, Pietiäinen V, Aittomäki K, Saarela J. Lehtonen J, et al. Hum Mol Genet. 2025 Jul 20;34(15):1294-1312. doi: 10.1093/hmg/ddaf081. Hum Mol Genet. 2025. PMID: 40401444 Free PMC article.
Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.
Partanen T, Chen J, Lehtonen J, Kuismin O, Rusanen H, Vapalahti O, Vaheri A, Anttila VJ, Bode M, Hautala N, Vuorinen T, Glumoff V, Kraatari M, Åström P, Saarela J, Kauma H, Lorenzo L, Casanova JL, Zhang SY, Seppänen M, Hautala T. Partanen T, et al. Among authors: lehtonen j. J Clin Immunol. 2020 Nov;40(8):1156-1162. doi: 10.1007/s10875-020-00834-2. Epub 2020 Sep 16. J Clin Immunol. 2020. PMID: 32936395 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: lehtonen j. 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.
Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation.
Hautala T, Chen J, Tervonen L, Partanen T, Winqvist S, Lehtonen J, Saarela J, Kraatari M, Kuismin O, Vuorinen T, Glumoff V, Åström P, Huuskonen U, Lorenzo L, Casanova JL, Zhang SY, Seppänen MRJ. Hautala T, et al. Among authors: lehtonen j. Neurol Genet. 2020 Nov 25;6(6):e532. doi: 10.1212/NXG.0000000000000532. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33294619 Free PMC article. No abstract available.