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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: fridriksdottir r. Genome Med. 2025 Apr 14;17(1):38. doi: 10.1186/s13073-025-01463-3. Genome Med. 2025. PMID: 40229899 Free PMC article.
Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder.
Thorgeirsson TE, Tragante V, Sveinbjornsson G, Jonsdottir GA, Walters GB, Ivarsdottir EV, Arnadottir GA, Sturluson A, Jensson BO, Fridriksdottir R, Skuladottir AT, Einarsson G, Bjornsdottir G, Gunnarsson AF, Gisladottir RS, Sigurdsson A, Oddsson A, Jonsson H, Magnusson OT, Helgason H, Norddahl G, Thorleifsson G, Haraldsson M, Sigurdsson E, Holm H, Masson G, Gudbjartsson DF, Stefansson H, Sulem P, Stefansson K. Thorgeirsson TE, et al. Among authors: fridriksdottir r. Nat Genet. 2025 Apr;57(4):851-855. doi: 10.1038/s41588-025-02141-1. Epub 2025 Mar 25. Nat Genet. 2025. PMID: 40133559 Free PMC article.
Missense variants in FRS3 affect body mass index in populations of diverse ancestries.
Jonsdottir AB, Sveinbjornsson G, Thorolfsdottir RB, Tamlander M, Tragante V, Olafsdottir T, Rognvaldsson S, Sigurdsson A, Eggertsson HP, Aegisdottir HM, Arnar DO, Banasik K, Beyter D, Bjarnason RG, Bjornsdottir G, Brunak S, Topholm Bruun M, Dowsett J, Einarsson E, Einarsson G, Erikstrup C, Fridriksdottir R, Ghouse J, Gretarsdottir S, Halldorsson GH, Hansen T, Helgadottir A, Holm PC, Ivarsdottir EV, Iversen KK, Jensen BA, Jonsdottir I, Knight S, Knowlton KU, Kristmundsdottir S, Larusdottir AE, Magnusson OT, Masson G, Melsted P, Mikkelsen C, Moore KHS, Oddsson A, Olason PI, Palsson F, Pedersen OB, Schwinn M, Sigurdsson EL, Skaftason A, Stefansdottir L, Stefansson H, Steingrimsdottir T, Sturluson A, Styrkarsdottir U, Sørensen E, Teitsdottir UD, Thorgeirsson TE, Thorisson GA, Thorsteinsdottir U, Ulfarsson MO, Ullum H, Vikingsson A, Walters GB; DBDS Genomic Consortium; Nadauld LD, Bundgaard H, Ostrowski SR, Helgason A, Halldorsson BV, Norddahl GL, Ripatti S, Gudbjartsson DF, Thorleifsson G, Steinthorsdottir V, Holm H, Sulem P, Stefansson K. Jonsdottir AB, et al. Among authors: fridriksdottir r. Nat Commun. 2025 Mar 25;16(1):2694. doi: 10.1038/s41467-025-57753-2. Nat Commun. 2025. PMID: 40133257 Free PMC article.
Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish.
Abdel-Hamid MS, Paimboeuf A, Zaki MS, Figueiredo F, Abdel-Ghafar SF, Maher S, Friðriksdóttir R, Sulem P, Högnason HB, Hallgrímsdóttir S, Rojas CFN, Kok F, Suri M, Alves CAPF, Houlden H, Maroofian R, Patten SA. Abdel-Hamid MS, et al. Among authors: fridriksdottir r. Brain Commun. 2025 Feb 5;7(1):fcaf055. doi: 10.1093/braincomms/fcaf055. eCollection 2025. Brain Commun. 2025. PMID: 40040844 Free PMC article.
Predictors of treatment outcomes for Hepatitis C infection in a nationwide elimination program in Iceland: The treatment as prevention for Hepatitis C (TraP HepC) study.
Olafsson S, Love TJ, Fridriksdottir RH, Tyrfingsson T, Runarsdottir V, Hansdottir I, Bergmann OM, Björnsson ES, Johannsson B, Sigurdardottir B, Löve A, Baldvinsdottir GE, Thordardottir M, Hernandez UB, Heimisdottir M, Hellard M, Gottfredsson M; TraP Hep C working group. Olafsson S, et al. Among authors: fridriksdottir rh. Int J Drug Policy. 2024 Nov;133:104616. doi: 10.1016/j.drugpo.2024.104616. Epub 2024 Oct 24. Int J Drug Policy. 2024. PMID: 39454253 Free article.
Verification of reprojected planar images generated from a ring-configured cadmium zinc telluride gamma camera in scintigraphy for diagnosing transthyretin cardiac amyloidosis.
Cerić Andelius I, Fridriksdóttir R, Minarik D, Hedeer F, Stenvall A, Trägårdh E, Oddstig J. Cerić Andelius I, et al. Among authors: fridriksdottir r. Eur Heart J Imaging Methods Pract. 2024 May 31;2(1):qyae051. doi: 10.1093/ehjimp/qyae051. eCollection 2024 Jan. Eur Heart J Imaging Methods Pract. 2024. PMID: 39224107 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.
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 Nov;32(11):1378-1386. doi: 10.1038/s41431-024-01661-4. Epub 2024 Jul 4. Eur J Hum Genet. 2024. PMID: 38965372
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 Free PMC article.
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
30 results