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Page 1
Actionable Genotypes and Life Span in Iceland. Reply.
Jensson BO, Stefansson K, Sulem P. Jensson BO, et al. Among authors: stefansson k. N Engl J Med. 2024 Mar 7;390(10):10.1056/NEJMc2314021#sa5. doi: 10.1056/NEJMc2314021. N Engl J Med. 2024. PMID: 38446687 No abstract available.
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: stefansson k. 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.
The rate and nature of mitochondrial DNA mutations in human pedigrees.
Árnadóttir ER, Moore KHS, Guðmundsdóttir VB, Ebenesersdóttir SS, Guity K, Jónsson H, Stefánsson K, Helgason A. Árnadóttir ER, et al. Among authors: stefansson k. Cell. 2024 Jul 25;187(15):3904-3918.e8. doi: 10.1016/j.cell.2024.05.022. Epub 2024 Jun 7. Cell. 2024. PMID: 38851187
Histopathology and levels of proteins in plasma associate with survival after colorectal cancer diagnosis.
Magnusson MI, Agnarsson BA, Jonasson JG, Tryggvason T, Aeffner F, le Roux L, Magnusdottir DN, Gunnarsdottir HS, Alexíusdóttir KK, Gunnarsdottir K, Söebech E, Runarsdottir H, Jonsdottir EM, Kristinsdottir BS, Olafsson S, Knutsdottir H, Thorsteinsdottir U, Ulfarsson MO, Gudbjartsson DF, Saemundsdottir J, Magnusson OT, Norddahl GL, Watson JEV, Rafnar T, Lund SH, Stefansson K. Magnusson MI, et al. Among authors: stefansson k. Br J Cancer. 2023 Oct;129(7):1142-1151. doi: 10.1038/s41416-023-02374-z. Epub 2023 Aug 18. Br J Cancer. 2023. PMID: 37596405 Free PMC article.
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group; Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. Nalls MA, et al. Among authors: stefansson h, stefansson k. Nat Genet. 2014 Sep;46(9):989-93. doi: 10.1038/ng.3043. Epub 2014 Jul 27. Nat Genet. 2014. PMID: 25064009 Free PMC article.
Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.
Braun A, Shekhar S, Levey DF, Straub P, Kraft J, Panagiotaropoulou GM, Heilbron K, Awasthi S, Meleka Hanna R, Hoffmann S, Stein M, Lehnerer S, Mergenthaler P, Elnahas AG, Topaloudi A, Koromina M, Palviainen T, Asbjornsdottir B, Stefansson H, Skuladóttir AT, Jónsdóttir I, Stefansson K, Reis K, Esko T, Palotie A, Leypoldt F, Stein MB, Fontanillas P; Estonian Biobank Research Team; 23andMe Research Team; Kaprio J, Gelernter J, Davis LK, Paschou P, Tannemaat MR, Verschuuren JJGM, Kuhlenbäumer G, Gregersen PK, Huijbers MG, Stascheit F, Meisel A, Ripke S. Braun A, et al. Among authors: stefansson k. Nat Commun. 2024 Nov 13;15(1):9839. doi: 10.1038/s41467-024-53595-6. Nat Commun. 2024. PMID: 39537604 Free PMC article.
Sequence variants associated with BMI affect disease risk through BMI itself.
Einarsson G, Thorleifsson G, Steinthorsdottir V, Zink F, Helgason H, Olafsdottir T, Rognvaldsson S, Tragante V, Ulfarsson MO, Sveinbjornsson G, Snaebjarnarson AS, Einarsson H, Aegisdottir HM, Jonsdottir GA, Helgadottir A, Gretarsdottir S, Styrkarsdottir U, Arnason HK, Bjarnason R, Sigurdsson E, Arnar DO, Bjornsson ES, Palsson R, Bjornsdottir G, Stefansson H, Thorgeirsson T, Sulem P, Thorsteinsdottir U, Holm H, Gudbjartsson DF, Stefansson K. Einarsson G, et al. Among authors: stefansson k. Nat Commun. 2024 Nov 12;15(1):9335. doi: 10.1038/s41467-024-53568-9. Nat Commun. 2024. PMID: 39532837 Free PMC article.
Gene-based burden tests of rare germline variants identify six cancer susceptibility genes.
Ivarsdottir EV, Gudmundsson J, Tragante V, Sveinbjornsson G, Kristmundsdottir S, Stacey SN, Halldorsson GH, Magnusson MI, Oddsson A, Walters GB, Sigurdsson A, Saevarsdottir S, Beyter D, Thorleifsson G, Halldorsson BV, Melsted P, Stefansson H, Jonsdottir I, Sørensen E, Pedersen OB, Erikstrup C, Bøgsted M, Pøhl M, Røder A, Stroomberg HV, Gögenur I, Hillingsø J, Bojesen SE, Lassen U, Høgdall E, Ullum H, Brunak S, Ostrowski SR; DBDS Genomic Consortium; Sonderby IE, Frei O, Djurovic S, Havdahl A, Moller P, Dominguez-Valentin M, Haavik J, Andreassen OA, Hovig E, Agnarsson BA, Hilmarsson R, Johannsson OT, Valdimarsson T, Jonsson S, Moller PH, Olafsson JH, Sigurgeirsson B, Jonasson JG, Tryggvason G, Holm H, Sulem P, Rafnar T, Gudbjartsson DF, Stefansson K. Ivarsdottir EV, et al. Among authors: stefansson k. Nat Genet. 2024 Nov;56(11):2422-2433. doi: 10.1038/s41588-024-01966-6. Epub 2024 Oct 29. Nat Genet. 2024. PMID: 39472694
A partial loss-of-function variant in STAT6 protects against type 2 asthma.
Kristjansdottir K, Norddahl GL, Ivarsdottir EV, Halldorsson GH, Einarsson G, Bjarnadottir K, Rutsdottir G, Arnthorsson AO, Erikstrup C, Gudmundsdottir S, Gunnarsdottir K, Gunnbjornsdottir MI, Halldorsson BV, Holm H, Ludviksdottir D, Ludviksson BR, Brunak S, Bruun MT, Mikkelsen C, Mikkelsen S, Jensen BA, Sørensen E, Thomsen SF, Ullum H, Olafsson I, Onundarson PT, Ostrowski SR, Saevarsdottir S, Sigurdardottir O, Sigurgeirsson B, Snaebjarnarson AS, Sveinbjornsson G, Thorlacius GE, Thorleifsson G, Tragante V, Vidarsson B, Porsbjerg C, Bjornsdottir US, Sulem P, Gudbjartsson DF, Melsted P, Pedersen OB, Jonsdottir I, Olafsdottir TA, Stefansson K. Kristjansdottir K, et al. Among authors: stefansson k. J Allergy Clin Immunol. 2024 Oct 16:S0091-6749(24)01029-7. doi: 10.1016/j.jaci.2024.10.002. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39423878 Free article.
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Seaby EG, et al. Among authors: stefansson k. Brain. 2024 Oct 15:awae320. doi: 10.1093/brain/awae320. Online ahead of print. Brain. 2024. PMID: 39405200
1,058 results