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Page 1
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. 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: ivarsdottir ev. J Allergy Clin Immunol. 2025 Jan;155(1):228-235. doi: 10.1016/j.jaci.2024.10.002. Epub 2024 Oct 16. J Allergy Clin Immunol. 2025. PMID: 39423878 Free article.
Genetic links between ovarian ageing, cancer risk and de novo mutation rates.
Stankovic S, Shekari S, Huang QQ, Gardner EJ, Ivarsdottir EV, Owens NDL, Mavaddat N, Azad A, Hawkes G, Kentistou KA, Beaumont RN, Day FR, Zhao Y, Jonsson H, Rafnar T, Tragante V, Sveinbjornsson G, Oddsson A, Styrkarsdottir U, Gudmundsson J, Stacey SN, Gudbjartsson DF; Breast Cancer Association Consortium; Kennedy K, Wood AR, Weedon MN, Ong KK, Wright CF, Hoffmann ER, Sulem P, Hurles ME, Ruth KS, Martin HC, Stefansson K, Perry JRB, Murray A. Stankovic S, et al. Among authors: ivarsdottir ev. Nature. 2024 Sep;633(8030):608-614. doi: 10.1038/s41586-024-07931-x. Epub 2024 Sep 11. Nature. 2024. PMID: 39261734 Free PMC article.
Loss-of-function variants in ITSN1 confer high risk of Parkinson's disease.
Skuladottir AT, Tragante V, Sveinbjornsson G, Helgason H, Sturluson A, Bjornsdottir A, Jonsson P, Palmadottir V, Sveinsson OA, Jensson BO, Gudjonsson SA, Ivarsdottir EV, Gisladottir RS, Gunnarsson AF, Walters GB, Jonsdottir GA, Thorgeirsson TE, Bjornsdottir G, Holm H, Gudbjartsson DF, Sulem P, Stefansson H, Stefansson K. Skuladottir AT, et al. Among authors: ivarsdottir ev. NPJ Parkinsons Dis. 2024 Aug 15;10(1):140. doi: 10.1038/s41531-024-00752-9. NPJ Parkinsons Dis. 2024. PMID: 39147844 Free PMC article.
Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy.
Nicastro M, Vermeer AMC, Postema PG, Tadros R, Bowling FZ, Aegisdottir HM, Tragante V, Mach L, Postma AV, Lodder EM, van Duijvenboden K, Zwart R, Beekman L, Wu L, van der Zwaag PA, Alders M, Allouba M, Aguib Y, Santomel JL, de Una D, Monserrat L, Miranda AMA, Kanemaru K, Cranley J, van Zeggeren IE, Aronica EMA, Ripolone M, Zanotti S, Sveinbjornsson G, Ivarsdottir EV, Hólm H, Guðbjartsson DF, Skúladóttir ÁT, Stefánsson K, Nadauld L, Knowlton KU, Ostrowski SR, Sørensen E, Vesterager Pedersen OB, Ghouse J, Rand S, Bundgaard H, Ullum H, Erikstrup C, Aagaard B, Bruun MT, Christiansen M, Jensen HK, Carere DA, Cummings CT, Fishler K, Tøring PM, Brusgaard K, Juul TM, Saaby L, Winkel BG, Mogensen J, Fortunato F, Comi GP, Ronchi D, van Tintelen JP, Noseda M, Airola MV, Christiaans I, Wilde AAM, Wilders R, Clur SA, Verkerk AO, Bezzina CR, Lahrouchi N. Nicastro M, et al. Among authors: ivarsdottir ev. medRxiv [Preprint]. 2024 Jul 5:2024.07.04.24309755. doi: 10.1101/2024.07.04.24309755. medRxiv. 2024. PMID: 39006410 Free PMC article. Preprint.
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.
Saevarsdottir S, Bjarnadottir K, Markusson T, Berglund J, Olafsdottir TA, Halldorsson GH, Rutsdottir G, Gunnarsdottir K, Arnthorsson AO, Lund SH, Stefansdottir L, Gudmundsson J, Johannesson AJ, Sturluson A, Oddsson A, Halldorsson B, Ludviksson BR, Ferkingstad E, Ivarsdottir EV, Sveinbjornsson G, Grondal G, Masson G, Eldjarn GH, Thorisson GA, Kristjansdottir K, Knowlton KU, Moore KHS, Gudjonsson SA, Rognvaldsson S, Knight S, Nadauld LD, Holm H, Magnusson OT, Sulem P, Gudbjartsson DF, Rafnar T, Thorleifsson G, Melsted P, Norddahl GL, Jonsdottir I, Stefansson K. Saevarsdottir S, et al. Among authors: ivarsdottir ev. Nat Commun. 2024 Jul 9;15(1):5748. doi: 10.1038/s41467-024-50007-7. Nat Commun. 2024. PMID: 38982041 Free PMC article.
Homozygosity for R47H in TREM2 and the Risk of Alzheimer's Disease.
Stefansson H, Walters GB, Sveinbjornsson G, Tragante V, Einarsson G, Helgason H, Sigurðsson A, Beyter D, Snaebjarnarson AS, Ivarsdottir EV, Thorleifsson G, Halldorsson BV, Norddahl G, Styrkarsdottir U, Sturluson A, Holm H, Helgason A, Moore K, Eggertsson HP, Oddsson AH, Jonsdottir GA, Gunnarsson AF, Bjornsdottir G, Gisladottir RS, Thorgeirsson TE, Skuladottir A, Gudbjartsson DF, Sulem P, Jonsson P, Thordardottir S, Snaedal J, Eyjolfsdottir H, Creese B, Ballard C, Corbett A, Vasconcelos Da Silva M, Aarsland D, Andreassen OA; DemGen Study Group; Selbæk G, Djurovic S, Stordal E, Fladby T, Haavik J, Igland J, Giil LM, Eriksson S, Hallmans G, Lövheim H, Lopatko Lindman K, Trupp M, Forsgren L, Werge T, Banasik K, Brunak S, Ullum H, Frikke-Schmidt R, Ostrowski SR; DBDS Genomic Consortium; Didriksen M, Sørensen E, Simonsen AH, Nielsen JE, Waldemar G, Pedersen OB, Erikstrup C, Knowlton KU, Nadauld LD, Stefansson K; DemGen Study Group and DBDS Genomic Consortium. Stefansson H, et al. Among authors: ivarsdottir ev. N Engl J Med. 2024 Jun 20;390(23):2217-2219. doi: 10.1056/NEJMc2314334. N Engl J Med. 2024. PMID: 38899702 No abstract available.
Variants at the Interleukin 1 Gene Locus and Pericarditis.
Thorolfsdottir RB, Jonsdottir AB, Sveinbjornsson G, Aegisdottir HM, Oddsson A, Stefansson OA, Halldorsson GH, Saevarsdottir S, Thorleifsson G, Stefansdottir L, Pedersen OB, Sørensen E, Ghouse J, Raja AA, Zheng C, Silajdzija E, Rand SA, Erikstrup C, Ullum H, Mikkelsen C, Banasik K, Brunak S, Ivarsdottir EV, Sigurdsson A, Beyter D, Sturluson A, Einarsson H, Tragante V, Helgason H, Lund SH, Halldorsson BV, Sigurpalsdottir BD, Olafsson I, Arnar DO, Thorgeirsson G, Knowlton KU, Nadauld LD, Gretarsdottir S, Helgadottir A, Ostrowski SR, Gudbjartssson DF, Jonsdottir I, Bundgaard H, Holm H, Sulem P, Stefansson K; Danish Blood Donor Study Genomic Consortium. Thorolfsdottir RB, et al. Among authors: ivarsdottir ev. JAMA Cardiol. 2024 Feb 1;9(2):165-172. doi: 10.1001/jamacardio.2023.4820. JAMA Cardiol. 2024. PMID: 38150231 Free PMC article.
Complex effects of sequence variants on lipid levels and coronary artery disease.
Snaebjarnarson AS, Helgadottir A, Arnadottir GA, Ivarsdottir EV, Thorleifsson G, Ferkingstad E, Einarsson G, Sveinbjornsson G, Thorgeirsson TE, Ulfarsson MO, Halldorsson BV, Olafsson I, Erikstrup C, Pedersen OB, Nyegaard M, Bruun MT, Ullum H, Brunak S, Iversen KK, Christensen AH, Olesen MS, Ghouse J, Banasik K; DBDS Genomic Consortium; Knowlton KU, Arnar DO, Thorgeirsson G, Nadauld L, Ostrowski SR, Bundgaard H, Holm H, Sulem P, Stefansson K, Gudbjartsson DF. Snaebjarnarson AS, et al. Among authors: ivarsdottir ev. Cell. 2023 Sep 14;186(19):4085-4099.e15. doi: 10.1016/j.cell.2023.08.012. Cell. 2023. PMID: 37714134 Free article.
Evaluation of Large-Scale Proteomics for Prediction of Cardiovascular Events.
Helgason H, Eiriksdottir T, Ulfarsson MO, Choudhary A, Lund SH, Ivarsdottir EV, Hjorleifsson Eldjarn G, Einarsson G, Ferkingstad E, Moore KHS, Honarpour N, Liu T, Wang H, Hucko T, Sabatine MS, Morrow DA, Giugliano RP, Ostrowski SR, Pedersen OB, Bundgaard H, Erikstrup C, Arnar DO, Thorgeirsson G, Masson G, Magnusson OT, Saemundsdottir J, Gretarsdottir S, Steinthorsdottir V, Thorleifsson G, Helgadottir A, Sulem P, Thorsteinsdottir U, Holm H, Gudbjartsson D, Stefansson K. Helgason H, et al. Among authors: ivarsdottir ev. JAMA. 2023 Aug 22;330(8):725-735. doi: 10.1001/jama.2023.13258. JAMA. 2023. PMID: 37606673 Free PMC article.
37 results