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Page 1
Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program.
Wheeler MM, Stilp AM, Rao S, Halldórsson BV, Beyter D, Wen J, Mihkaylova AV, McHugh CP, Lane J, Jiang MZ, Raffield LM, Jun G, Sedlazeck FJ, Metcalf G, Yao Y, Bis JB, Chami N, de Vries PS, Desai P, Floyd JS, Gao Y, Kammers K, Kim W, Moon JY, Ratan A, Yanek LR, Almasy L, Becker LC, Blangero J, Cho MH, Curran JE, Fornage M, Kaplan RC, Lewis JP, Loos RJF, Mitchell BD, Morrison AC, Preuss M, Psaty BM, Rich SS, Rotter JI, Tang H, Tracy RP, Boerwinkle E, Abecasis GR, Blackwell TW, Smith AV, Johnson AD, Mathias RA, Nickerson DA, Conomos MP, Li Y, Þorsteinsdóttir U, Magnússon MK, Stefansson K, Pankratz ND, Bauer DE, Auer PL, Reiner AP. Wheeler MM, et al. Among authors: thorsteinsdottir u. Nat Commun. 2022 Dec 8;13(1):7592. doi: 10.1038/s41467-022-35354-7. Nat Commun. 2022. PMID: 36481753 Free PMC article.
Parental origin of sequence variants associated with complex diseases.
Kong A, Steinthorsdottir V, Masson G, Thorleifsson G, Sulem P, Besenbacher S, Jonasdottir A, Sigurdsson A, Kristinsson KT, Jonasdottir A, Frigge ML, Gylfason A, Olason PI, Gudjonsson SA, Sverrisson S, Stacey SN, Sigurgeirsson B, Benediktsdottir KR, Sigurdsson H, Jonsson T, Benediktsson R, Olafsson JH, Johannsson OT, Hreidarsson AB, Sigurdsson G; DIAGRAM Consortium; Ferguson-Smith AC, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K. Kong A, et al. Among authors: thorsteinsdottir u. Nature. 2009 Dec 17;462(7275):868-74. doi: 10.1038/nature08625. Nature. 2009. PMID: 20016592 Free PMC article.
Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries.
Mishra A, Malik R, Hachiya T, Jürgenson T, Namba S, Posner DC, Kamanu FK, Koido M, Le Grand Q, Shi M, He Y, Georgakis MK, Caro I, Krebs K, Liaw YC, Vaura FC, Lin K, Winsvold BS, Srinivasasainagendra V, Parodi L, Bae HJ, Chauhan G, Chong MR, Tomppo L, Akinyemi R, Roshchupkin GV, Habib N, Jee YH, Thomassen JQ, Abedi V, Cárcel-Márquez J, Nygaard M, Leonard HL, Yang C, Yonova-Doing E, Knol MJ, Lewis AJ, Judy RL, Ago T, Amouyel P, Armstrong ND, Bakker MK, Bartz TM, Bennett DA, Bis JC, Bordes C, Børte S, Cain A, Ridker PM, Cho K, Chen Z, Cruchaga C, Cole JW, de Jager PL, de Cid R, Endres M, Ferreira LE, Geerlings MI, Gasca NC, Gudnason V, Hata J, He J, Heath AK, Ho YL, Havulinna AS, Hopewell JC, Hyacinth HI, Inouye M, Jacob MA, Jeon CE, Jern C, Kamouchi M, Keene KL, Kitazono T, Kittner SJ, Konuma T, Kumar A, Lacaze P, Launer LJ, Lee KJ, Lepik K, Li J, Li L, Manichaikul A, Markus HS, Marston NA, Meitinger T, Mitchell BD, Montellano FA, Morisaki T, Mosley TH, Nalls MA, Nordestgaard BG, O'Donnell MJ, Okada Y, Onland-Moret NC, Ovbiagele B, Peters A, Psaty BM, Rich SS, Rosand J, Sabatine MS, Sacco RL, Saleheen D, Sandset EC, Salomaa V, Sargurupremraj M, Sasaki M, Satizabal CL, Schmidt CO, Sh… See abstract for full author list ➔ Mishra A, et al. Nature. 2022 Dec;612(7938):E7. doi: 10.1038/s41586-022-05492-5. Nature. 2022. PMID: 36376532 Free PMC article. No abstract available.
Author Correction: Functional dissection of inherited non-coding variation influencing multiple myeloma risk.
Ajore R, Niroula A, Pertesi M, Cafaro C, Thodberg M, Went M, Bao EL, Duran-Lozano L, Lopez de Lapuente Portilla A, Olafsdottir T, Ugidos-Damboriena N, Magnusson O, Samur M, Lareau CA, Halldorsson GH, Thorleifsson G, Norddahl GL, Gunnarsdottir K, Försti A, Goldschmidt H, Hemminki K, van Rhee F, Kimber S, Sperling AS, Kaiser M, Anderson K, Jonsdottir I, Munshi N, Rafnar T, Waage A, Weinhold N, Thorsteinsdottir U, Sankaran VG, Stefansson K, Houlston R, Nilsson B. Ajore R, et al. Among authors: thorsteinsdottir u. Nat Commun. 2022 Dec 13;13(1):7725. doi: 10.1038/s41467-022-35411-1. Nat Commun. 2022. PMID: 36513657 Free PMC article. No abstract available.
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: thorsteinsdottir u. 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: thorsteinsdottir u. 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.
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: thorsteinsdottir u. 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.
Genome-wide association meta-analysis of knee and hip osteoarthritis uncovers genetic differences between patients treated with joint replacement and patients without joint replacement.
Henkel C, Styrkársdóttir U, Thorleifsson G, Stefánsdóttir L, Björnsdóttir G, Banasik K, Brunak S, Erikstrup C, Dinh KM, Hansen TF, Nielsen KR, Bruun MT, Dowsett J, Brodersen T; DBDS Genomic Consortium; Thorgeirsson TE, Gromov K, Boesen MP, Ullum H, Ostrowski SR, Pedersen OB, Stefánsson K, Troelsen A. Henkel C, et al. Ann Rheum Dis. 2023 Mar;82(3):384-392. doi: 10.1136/ard-2022-223199. Epub 2022 Nov 14. Ann Rheum Dis. 2023. PMID: 36376028
Genetic variants associated with syncope implicate neural and autonomic processes.
Aegisdottir HM, Thorolfsdottir RB, Sveinbjornsson G, Stefansson OA, Gunnarsson B, Tragante V, Thorleifsson G, Stefansdottir L, Thorgeirsson TE, Ferkingstad E, Sulem P, Norddahl G, Rutsdottir G, Banasik K, Christensen AH, Mikkelsen C, Pedersen OB, Brunak S, Bruun MT, Erikstrup C, Jacobsen RL, Nielsen KR, Sørensen E, Frigge ML, Hjorleifsson KE, Ivarsdottir EV, Helgadottir A, Gretarsdottir S, Steinthorsdottir V, Oddsson A, Eggertsson HP, Halldorsson GH, Jones DA, Anderson JL, Knowlton KU, Nadauld LD; DBDS Genomic Consortium; Haraldsson M, Thorgeirsson G, Bundgaard H, Arnar DO, Thorsteinsdottir U, Gudbjartsson DF, Ostrowski SR, Holm H, Stefansson K. Aegisdottir HM, et al. Among authors: thorsteinsdottir u. Eur Heart J. 2023 Mar 21;44(12):1070-1080. doi: 10.1093/eurheartj/ehad016. Eur Heart J. 2023. PMID: 36747475
Deep integrative models for large-scale human genomics.
Sigurdsson AI, Louloudis I, Banasik K, Westergaard D, Winther O, Lund O, Ostrowski SR, Erikstrup C, Pedersen OBV, Nyegaard M; DBDS Genomic Consortium; Brunak S, Vilhjálmsson BJ, Rasmussen S. Sigurdsson AI, et al. Nucleic Acids Res. 2023 Jul 7;51(12):e67. doi: 10.1093/nar/gkad373. Nucleic Acids Res. 2023. PMID: 37224538 Free PMC article.
513 results