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2018 1
2019 1
2020 2
2021 6
2022 5
2023 6
2024 5

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25 results

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Page 1
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: fridriksdottir r. Nat Genet. 2021 Dec;53(12):1712-1721. doi: 10.1038/s41588-021-00978-w. Epub 2021 Dec 2. Nat Genet. 2021. PMID: 34857953
Actionable Genotypes and Their Association with Life Span in Iceland.
Jensson BO, Arnadottir GA, Katrinardottir H, Fridriksdottir R, Helgason H, Oddsson A, Sveinbjornsson G, Eggertsson HP, Halldorsson GH, Atlason BA, Jonsson H, Oskarsson GR, Sturluson A, Gudjonsson SA, Thorisson GA, Zink F, Moore KHS, Palsson G, Sigurdsson A, Jonasdottir A, Jonasdottir A, Magnusson MK, Helgadottir A, Steinthorsdottir V, Gudmundsson J, Stacey SN, Hilmarsson R, Olafsson I, Johannsson OT, Arnar DO, Saemundsdottir J, Magnusson OT, Masson G, Halldorsson BV, Helgason A, Stefansson H, Jonsdottir I, Holm H, Rafnar T, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K, Sulem P. Jensson BO, et al. Among authors: fridriksdottir r. N Engl J Med. 2023 Nov 9;389(19):1741-1752. doi: 10.1056/NEJMoa2300792. N Engl J Med. 2023. PMID: 37937776
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, C… See abstract for full author list ➔ Stephenson SEM, et al. Among authors: fridriksdottir r. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency.
Oddsson A, Steinthorsdottir V, Oskarsson GR, Styrkarsdottir U, Moore KHS, Isberg S, Halldorsson GH, Sveinbjornsson G, Westergaard D, Nielsen HS, Fridriksdottir R, Jensson BO, Arnadottir GA, Jonsson H, Sturluson A, Snaebjarnarson AS, Andreassen OA, Walters GB, Nyegaard M, Erikstrup C, Steingrimsdottir T, Lie RT, Melsted P, Jonsdottir I, Halldorsson BV, Thorleifsson G, Saemundsdottir J, Magnusson OT; DBDS Genomic Consortium; Banasik K, Sorensen E, Masson G, Pedersen OB, Tryggvadottir L, Haavik J, Ostrowski SR, Stefansson H, Holm H, Rafnar T, Gudbjartsson DF, Sulem P, Stefansson K. Oddsson A, et al. Among authors: fridriksdottir r. Nat Genet. 2024 Sep;56(9):1804-1810. doi: 10.1038/s41588-024-01885-6. Epub 2024 Aug 27. Nat Genet. 2024. PMID: 39192094 Free PMC article.
Molecular benchmarks of a SARS-CoV-2 epidemic.
Jonsson H, Magnusson OT, Melsted P, Berglund J, Agustsdottir AB, Eiríksdottir B, Fridriksdottir R, Garðarsdottir EE, Georgsson G, Gretarsdottir OS, Guðmundsson KR, Gunnarsdottir TR, Eggertsson H, Gylfason A, Holm H, Jensson BO, Jonasdottir A, Jonsson F, Josefsdottir KS, Thordardottir M, Kristinsson KG, Kristjánsson Þ, Magnusdottir DN, Roux LL, Saemundsdottir J, Sigurdsson A, Sigmundsdottir G, Sveinbjornsson G, Rognvaldsson S, Eiriksson O, Magnusson MK, Sveinsdottir KE, Sveinsdottir M, Thorarensen EA, Thorbjornsson B, Löve A, Norddahl GL, Jonsdottir I, Sulem P, Masson G, Moller A, Gudnason T, Kristjansson M, Helgason A, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K. Jonsson H, et al. Among authors: fridriksdottir r. Nat Commun. 2021 Jun 15;12(1):3633. doi: 10.1038/s41467-021-23883-6. Nat Commun. 2021. PMID: 34131116 Free PMC article.
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
Deb W, Rosenfelt C, Vignard V, Papendorf JJ, Möller S, Wendlandt M, Studencka-Turski M, Cogné B, Besnard T, Ruffier L, Toutain B, Poirier L, Cuinat S, Kritzer A, Crunk A, diMonda J, Vengoechea J, Mercier S, Kleinendorst L, van Haelst MM, Zuurbier L, Sulem T, Katrínardóttir H, Friðriksdóttir R, Sulem P, Stefansson K, Jonsdottir B, Zeidler S, Sinnema M, Stegmann APA, Naveh N, Skraban CM, Gray C, Murrell JR, Isikay S, Pehlivan D, Calame DG, Posey JE, Nizon M, McWalter K, Lupski JR, Isidor B, Bolduc FV, Bézieau S, Krüger E, Küry S, Ebstein F. Deb W, et al. Among authors: fridriksdottir r. Am J Hum Genet. 2024 Jul 11;111(7):1352-1369. doi: 10.1016/j.ajhg.2024.05.016. Epub 2024 Jun 11. Am J Hum Genet. 2024. PMID: 38866022
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.
Smal N, Majdoub F, Janssens K, Reyniers E, Meuwissen MEC, Ceulemans B, Northrup H, Hill JB, Liu L, Errichiello E, Gana S, Strong A, Rohena L, Franciskovich R, Murali CN, Huybrechs A, Sulem T, Fridriksdottir R, Sulem P, Stefansson K, Bai Y, Rosenfeld JA, Lalani SR, Streff H; Undiagnosed Diseases Network; Kooy RF, Weckhuysen S. Smal N, et al. Among authors: fridriksdottir r. Eur J Hum Genet. 2024 Jul 4. doi: 10.1038/s41431-024-01661-4. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38965372
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: fridriksdottir r. 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.
Genetic architecture of band neutrophil fraction in Iceland.
Oskarsson GR, Magnusson MK, Oddsson A, Jensson BO, Fridriksdottir R, Arnadottir GA, Katrinardottir H, Rognvaldsson S, Halldorsson GH, Sveinbjornsson G, Ivarsdottir EV, Stefansdottir L, Ferkingstad E, Norland K, Tragante V, Saemundsdottir J, Jonasdottir A, Jonasdottir A, Sigurjonsdottir S, Petursdottir KO, Davidsson OB, Rafnar T, Holm H, Olafsson I, Onundarson PT, Vidarsson B, Sigurdardottir O, Masson G, Gudbjartsson DF, Jonsdottir I, Norddahl GL, Thorsteinsdottir U, Sulem P, Stefansson K. Oskarsson GR, et al. Among authors: fridriksdottir r. Commun Biol. 2022 Jun 1;5(1):525. doi: 10.1038/s42003-022-03462-1. Commun Biol. 2022. PMID: 35650273 Free PMC article.
Spread of SARS-CoV-2 in the Icelandic Population.
Gudbjartsson DF, Helgason A, Jonsson H, Magnusson OT, Melsted P, Norddahl GL, Saemundsdottir J, Sigurdsson A, Sulem P, Agustsdottir AB, Eiriksdottir B, Fridriksdottir R, Gardarsdottir EE, Georgsson G, Gretarsdottir OS, Gudmundsson KR, Gunnarsdottir TR, Gylfason A, Holm H, Jensson BO, Jonasdottir A, Jonsson F, Josefsdottir KS, Kristjansson T, Magnusdottir DN, le Roux L, Sigmundsdottir G, Sveinbjornsson G, Sveinsdottir KE, Sveinsdottir M, Thorarensen EA, Thorbjornsson B, Löve A, Masson G, Jonsdottir I, Möller AD, Gudnason T, Kristinsson KG, Thorsteinsdottir U, Stefansson K. Gudbjartsson DF, et al. Among authors: fridriksdottir r. N Engl J Med. 2020 Jun 11;382(24):2302-2315. doi: 10.1056/NEJMoa2006100. Epub 2020 Apr 14. N Engl J Med. 2020. PMID: 32289214 Free PMC article.
25 results