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Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Arnadottir GA, Oddsson A, Jensson BO, Gisladottir S, Simon MT, Arnthorsson AO, Katrinardottir H, Fridriksdottir R, Ivarsdottir EV, Jonasdottir A, Jonasdottir A, Barrick R, Saemundsdottir J, le Roux L, Oskarsson GR, Asmundsson J, Steffensen T, Gudmundsson KR, Ludvigsson P, Jonsson JJ, Masson G, Jonsdottir I, Holm H, Jonasson JG, Magnusson OT, Thorarensen O, Abdenur J, Norddahl GL, Gudbjartsson DF, Bjornsson HT, Thorsteinsdottir U, Sulem P, Stefansson K. Arnadottir GA, et al. Among authors: bjornsson ht. Nat Commun. 2022 Feb 4;13(1):705. doi: 10.1038/s41467-022-28330-8. Nat Commun. 2022. PMID: 35121750 Free PMC article.
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.
Fridriksdottir R, Jonsson AJ, Jensson BO, Sverrisson KO, Arnadottir GA, Skarphedinsdottir SJ, Katrinardottir H, Snaebjornsdottir S, Jonsson H, Eiriksson O, Oskarsson GR, Oddsson A, Jonasdottir A, Jonasdottir A, Sigurdsson GH, Indridason EP, Sigurdsson SB, Bjornsdottir G, Saemundsdottir J, Magnusson OT, Bjornsson HT, Thorsteinsdottir U, Sigurdsson TS, Sulem P, Sigurdsson MI, Stefansson K. Fridriksdottir R, et al. Among authors: bjornsson ht. Eur J Hum Genet. 2021 Dec;29(12):1819-1824. doi: 10.1038/s41431-021-00954-2. Epub 2021 Aug 31. Eur J Hum Genet. 2021. PMID: 34462577 Free PMC article.
[Increased use of genetic health care in Iceland 2012-2017].
Hognason HB, Stefansdottir VF, Thorolfsdottir ET, Jonsson JJ, Bjornsson HT. Hognason HB, et al. Among authors: bjornsson ht. Laeknabladid. 2022 Jan;108(1):11-16. doi: 10.17992/lbl.2022.01.670. Laeknabladid. 2022. PMID: 34927600 Free article. Icelandic.
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.
Klemenzdottir EO, Arnadottir GA, Jensson BO, Jonasdottir A, Katrinardottir H, Fridriksdottir R, Jonasdottir A, Sigurdsson A, Gudjonsson SA, Jonsson JJ, Stefansdottir V, Danielsen R, Palsdottir A, Jonsson H, Helgason A, Magnusson OT, Thorsteinsdottir U, Bjornsson HT, Stefansson K, Sulem P. Klemenzdottir EO, et al. Among authors: bjornsson ht. Eur J Hum Genet. 2024 Jan;32(1):44-51. doi: 10.1038/s41431-023-01455-0. Epub 2023 Sep 8. Eur J Hum Genet. 2024. PMID: 37684520 Free PMC article.
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
Schnappauf O, Zhou Q, Moura NS, Ombrello AK, Michael DG, Deuitch N, Barron K, Stone DL, Hoffmann P, Hershfield M, Applegate C, Bjornsson HT, Beck DB, Witmer PD, Sobreira N, Wohler E, Chiorini JA, Center TAG, Dalgard CL, Center NIS, Kastner DL, Aksentijevich I. Schnappauf O, et al. Among authors: bjornsson ht. J Clin Immunol. 2020 Aug;40(6):917-926. doi: 10.1007/s10875-020-00817-3. Epub 2020 Jul 8. J Clin Immunol. 2020. PMID: 32638197 Free PMC article.
76 results