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Page 1
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.
Mattioli F, Friðriksdóttir R, Hebert A, Bassani S, Ibrahim N, Naz S, Chrast J, Pailler-Pradeau C, Oddsson Á, Sulem P, Halldorsson GH, Melsted P, Guðbjartsson DF, Palombo F, Pippucci T, Nouri N, Seri M, Farrow EG, Saunders CJ, Guex N, Ansar M, Stefansson K, Reymond A. Mattioli F, et al. Among authors: sulem p. Genome Med. 2025 Apr 14;17(1):38. doi: 10.1186/s13073-025-01463-3. Genome Med. 2025. PMID: 40229899 Free PMC article.
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: sulem p. Nat Commun. 2022 Feb 4;13(1):705. doi: 10.1038/s41467-022-28330-8. Nat Commun. 2022. PMID: 35121750 Free PMC article.
Effect of booster vaccination against Delta and Omicron SARS-CoV-2 variants in Iceland.
Norddahl GL, Melsted P, Gunnarsdottir K, Halldorsson GH, Olafsdottir TA, Gylfason A, Kristjansson M, Magnusson OT, Sulem P, Gudbjartsson DF, Thorsteinsdottir U, Jonsdottir I, Stefansson K. Norddahl GL, et al. Among authors: sulem p. Nat Commun. 2022 Sep 28;13(1):5701. doi: 10.1038/s41467-022-33076-4. Nat Commun. 2022. PMID: 36171188 Free PMC article.
Transformers significantly improve splice site prediction.
Jónsson BA, Halldórsson GH, Árdal S, Rögnvaldsson S, Einarsson E, Sulem P, Guðbjartsson DF, Melsted P, Stefánsson K, Úlfarsson MÖ. Jónsson BA, et al. Among authors: sulem p. Commun Biol. 2024 Dec 4;7(1):1616. doi: 10.1038/s42003-024-07298-9. Commun Biol. 2024. PMID: 39633146 Free PMC article.
Publisher Correction: Transformers significantly improve splice site prediction.
Jónsson BA, Halldórsson GH, Árdal S, Rögnvaldsson S, Einarsson E, Sulem P, Guðbjartsson DF, Melsted P, Stefánsson K, Úlfarsson MÖ. Jónsson BA, et al. Among authors: sulem p. Commun Biol. 2024 Dec 18;7(1):1640. doi: 10.1038/s42003-024-07379-9. Commun Biol. 2024. PMID: 39695339 Free PMC article. No abstract available.
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
Arnadottir GA, Jensson BO, Marelsson SE, Sulem G, Oddsson A, Kristjansson RP, Benonisdottir S, Gudjonsson SA, Masson G, Thorisson GA, Saemundsdottir J, Magnusson OT, Jonasdottir A, Jonasdottir A, Sigurdsson A, Gudbjartsson DF, Thorsteinsdottir U, Arngrimsson R, Sulem P, Stefansson K. Arnadottir GA, et al. Among authors: sulem p, sulem g. BMC Med Genet. 2017 Oct 2;18(1):103. doi: 10.1186/s12881-017-0466-8. BMC Med Genet. 2017. PMID: 28965491 Free PMC article.
Large-scale integration of the plasma proteome with genetics and disease.
Ferkingstad E, Sulem P, Atlason BA, Sveinbjornsson G, Magnusson MI, Styrmisdottir EL, Gunnarsdottir K, Helgason A, Oddsson A, Halldorsson BV, Jensson BO, Zink F, Halldorsson GH, Masson G, Arnadottir GA, Katrinardottir H, Juliusson K, Magnusson MK, Magnusson OT, Fridriksdottir R, Saevarsdottir S, Gudjonsson SA, Stacey SN, Rognvaldsson S, Eiriksdottir T, Olafsdottir TA, Steinthorsdottir V, Tragante V, Ulfarsson MO, Stefansson H, Jonsdottir I, Holm H, Rafnar T, Melsted P, Saemundsdottir J, Norddahl GL, Lund SH, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K. Ferkingstad E, et al. Among authors: sulem p. Nat Genet. 2021 Dec;53(12):1712-1721. doi: 10.1038/s41588-021-00978-w. Epub 2021 Dec 2. Nat Genet. 2021. PMID: 34857953
Sequence variants affecting the genome-wide rate of germline microsatellite mutations.
Kristmundsdottir S, Jonsson H, Hardarson MT, Palsson G, Beyter D, Eggertsson HP, Gylfason A, Sveinbjornsson G, Holley G, Stefansson OA, Halldorsson GH, Olafsson S, Arnadottir GA, Olason PI, Eiriksson O, Masson G, Thorsteinsdottir U, Rafnar T, Sulem P, Helgason A, Gudbjartsson DF, Halldorsson BV, Stefansson K. Kristmundsdottir S, et al. Among authors: sulem p. Nat Commun. 2023 Jun 29;14(1):3855. doi: 10.1038/s41467-023-39547-6. Nat Commun. 2023. PMID: 37386006 Free PMC article.
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.
Sveinbjornsson G, Benediktsdottir BD, Sigfusson G, Norland K, Davidsson OB, Thorolfsdottir RB, Tragante V, Arnadottir GA, Jensson BO, Katrinardottir H, Fridriksdottir R, Gudmundsdottir H, Aegisdottir HM, Fridriksson B, Thorgeirsson G, Magnusson V, Oddsson A, Sulem P, Gudbjartsson DF, Holm H, Arnar DO, Stefansson K. Sveinbjornsson G, et al. Among authors: sulem p. J Am Heart Assoc. 2023 Jul 18;12(14):e029845. doi: 10.1161/JAHA.123.029845. Epub 2023 Jul 14. J Am Heart Assoc. 2023. PMID: 37449562 Free PMC article.
297 results