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Page 1
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: helgason h. 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.
Loss-of-function variants in ATM confer risk of gastric cancer.
Helgason H, Rafnar T, Olafsdottir HS, Jonasson JG, Sigurdsson A, Stacey SN, Jonasdottir A, Tryggvadottir L, Alexiusdottir K, Haraldsson A, le Roux L, Gudmundsson J, Johannsdottir H, Oddsson A, Gylfason A, Magnusson OT, Masson G, Jonsson T, Skuladottir H, Gudbjartsson DF, Thorsteinsdottir U, Sulem P, Stefansson K. Helgason H, et al. Nat Genet. 2015 Aug;47(8):906-10. doi: 10.1038/ng.3342. Epub 2015 Jun 22. Nat Genet. 2015. PMID: 26098866
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Oddsson A, Sulem P, Sveinbjornsson G, Arnadottir GA, Steinthorsdottir V, Halldorsson GH, Atlason BA, Oskarsson GR, Helgason H, Nielsen HS, Westergaard D, Karjalainen JM, Katrinardottir H, Fridriksdottir R, Jensson BO, Tragante V, Ferkingstad E, Jonsson H, Gudjonsson SA, Beyter D, Moore KHS, Thordardottir HB, Kristmundsdottir S, Stefansson OA, Rantapää-Dahlqvist S, Sonderby IE, Didriksen M, Stridh P, Haavik J, Tryggvadottir L, Frei O, Walters GB, Kockum I, Hjalgrim H, Olafsdottir TA, Selbaek G, Nyegaard M, Erikstrup C, Brodersen T, Saevarsdottir S, Olsson T, Nielsen KR, Haraldsson A, Bruun MT, Hansen TF; DBDS Genomic Consortium; Steingrimsdottir T, Jacobsen RL, Lie RT, Djurovic S, Alfredsson L, Lopez de Lapuente Portilla A, Brunak S, Melsted P, Halldorsson BV, Saemundsdottir J, Magnusson OT, Padyukov L, Banasik K, Rafnar T, Askling J, Klareskog L, Pedersen OB, Masson G, Havdahl A, Nilsson B, Andreassen OA, Daly M, Ostrowski SR, Jonsdottir I, Stefansson H, Holm H, Helgason A, Thorsteinsdottir U, Stefansson K, Gudbjartsson DF. Oddsson A, et al. Among authors: helgason h, helgason a. Nat Commun. 2023 Jun 10;14(1):3453. doi: 10.1038/s41467-023-38951-2. Nat Commun. 2023. PMID: 37301908 Free PMC article.
Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Oddsson A, Sulem P, Sveinbjornsson G, Arnadottir GA, Steinthorsdottir V, Halldorsson GH, Atlason BA, Oskarsson GR, Helgason H, Nielsen HS, Westergaard D, Karjalainen JM, Katrinardottir H, Fridriksdottir R, Jensson BO, Tragante V, Ferkingstad E, Jonsson H, Gudjonsson SA, Beyter D, Moore KHS, Thordardottir HB, Kristmundsdottir S, Stefansson OA, Rantapää-Dahlqvist S, Sonderby IE, Didriksen M, Stridh P, Haavik J, Tryggvadottir L, Frei O, Walters GB, Kockum I, Hjalgrim H, Olafsdottir TA, Selbaek G, Nyegaard M, Erikstrup C, Brodersen T, Saevarsdottir S, Olsson T, Nielsen KR, Haraldsson A, Bruun MT, Hansen TF; DBDS Genomic Consortium; Steingrimsdottir T, Jacobsen RL, Lie RT, Djurovic S, Alfredsson L, Lopez de Lapuente Portilla A, Brunak S, Melsted P, Halldorsson BV, Saemundsdottir J, Magnusson OT, Padyukov L, Banasik K, Rafnar T, Askling J, Klareskog L, Pedersen OB, Masson G, Havdahl A, Nilsson B, Andreassen OA, Daly M, Ostrowski SR, Jonsdottir I, Stefansson H, Holm H, Helgason A, Thorsteinsdottir U, Stefansson K, Gudbjartsson DF. Oddsson A, et al. Among authors: helgason h, helgason a. Nat Commun. 2023 Jul 3;14(1):3923. doi: 10.1038/s41467-023-39492-4. Nat Commun. 2023. PMID: 37400429 Free PMC article. No abstract available.
Rate of de novo mutations and the importance of father's age to disease risk.
Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, Gudjonsson SA, Sigurdsson A, Jonasdottir A, Jonasdottir A, Wong WS, Sigurdsson G, Walters GB, Steinberg S, Helgason H, Thorleifsson G, Gudbjartsson DF, Helgason A, Magnusson OT, Thorsteinsdottir U, Stefansson K. Kong A, et al. Among authors: helgason h, helgason a. Nature. 2012 Aug 23;488(7412):471-5. doi: 10.1038/nature11396. Nature. 2012. PMID: 22914163 Free PMC article.
A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration.
Helgason H, Sulem P, Duvvari MR, Luo H, Thorleifsson G, Stefansson H, Jonsdottir I, Masson G, Gudbjartsson DF, Walters GB, Magnusson OT, Kong A, Rafnar T, Kiemeney LA, Schoenmaker-Koller FE, Zhao L, Boon CJ, Song Y, Fauser S, Pei M, Ristau T, Patel S, Liakopoulos S, van de Ven JP, Hoyng CB, Ferreyra H, Duan Y, Bernstein PS, Geirsdottir A, Helgadottir G, Stefansson E, den Hollander AI, Zhang K, Jonasson F, Sigurdsson H, Thorsteinsdottir U, Stefansson K. Helgason H, et al. Nat Genet. 2013 Nov;45(11):1371-4. doi: 10.1038/ng.2740. Epub 2013 Sep 15. Nat Genet. 2013. PMID: 24036950
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes.
Steinthorsdottir V, Thorleifsson G, Sulem P, Helgason H, Grarup N, Sigurdsson A, Helgadottir HT, Johannsdottir H, Magnusson OT, Gudjonsson SA, Justesen JM, Harder MN, Jørgensen ME, Christensen C, Brandslund I, Sandbæk A, Lauritzen T, Vestergaard H, Linneberg A, Jørgensen T, Hansen T, Daneshpour MS, Fallah MS, Hreidarsson AB, Sigurdsson G, Azizi F, Benediktsson R, Masson G, Helgason A, Kong A, Gudbjartsson DF, Pedersen O, Thorsteinsdottir U, Stefansson K. Steinthorsdottir V, et al. Among authors: helgason h, helgason a. Nat Genet. 2014 Mar;46(3):294-8. doi: 10.1038/ng.2882. Epub 2014 Jan 26. Nat Genet. 2014. PMID: 24464100
The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms.
Oddsson A, Kristinsson SY, Helgason H, Gudbjartsson DF, Masson G, Sigurdsson A, Jonasdottir A, Jonasdottir A, Steingrimsdottir H, Vidarsson B, Reykdal S, Eyjolfsson GI, Olafsson I, Onundarson PT, Runarsson G, Sigurdardottir O, Kong A, Rafnar T, Sulem P, Thorsteinsdottir U, Stefansson K. Oddsson A, et al. Among authors: helgason h. Leukemia. 2014 Jun;28(6):1371-4. doi: 10.1038/leu.2014.48. Epub 2014 Jan 30. Leukemia. 2014. PMID: 24476768 Free PMC article. No abstract available.
132 results