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Page 1
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.
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
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.
Publisher Correction: Transformers significantly improve splice site prediction.
Jónsson BA, Halldórsson GH, Árdal S, Rögnvaldsson S, Einarsson E, Sulem P, Guðbjartsson DF, Melsted P, Stefánsson K, Úlfarsson MÖ. Jónsson BA, et al. Among authors: stefansson k. Commun Biol. 2024 Dec 18;7(1):1640. doi: 10.1038/s42003-024-07379-9. Commun Biol. 2024. PMID: 39695339 Free PMC article. No abstract available.
A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways.
Andersen RK, Stefansdottir L, Riis PT, Halldorsson G, Ferkingstad E, Oddsson A, Walters GB, Olafsdottir TA, Rutsdottir G, Zachariae C, Thomsen SF, Brodersen T, Dinh KM, Knowlton KU, Knight S, Nadauld LD, Banasik K, Brunak S, Hansen TF, Hjalgrim H, Sørensen E, Mikkelsen C, Ullum H, Nyegaard M, Bruun MT, Erikstrup C, Ostrowski SR, Eidsmo L, Saunte DML, Sigurgeirsson B, Orvar KB, Saemundsdottir J, Melsted P, Norddahl GL, Sulem P, Stefansson H, Holm H, Gudbjartsson D, Thorleifsson G, Jonsdottir I, Pedersen OBV, Jemec GBE, Stefansson K. Andersen RK, et al. Among authors: stefansson k. J Am Acad Dermatol. 2024 Dec 5:S0190-9622(24)03292-4. doi: 10.1016/j.jaad.2024.11.050. Online ahead of print. J Am Acad Dermatol. 2024. PMID: 39645042 Free article.
Novel loci and biomedical consequences of iron homoeostasis variation.
Allara E, Bell S, Smith R, Keene SJ, Gill D, Gaziano L, Morselli Gysi D, Wang F, Tragante V, Mason A, Karthikeyan S, Lumbers RT, Bonglack E, Ouwehand W, Roberts DJ, Dowsett J, Ostrowski SR, Larsen MH, Ullum H, Pedersen OB, Brunak S, Banasik K, Erikstrup C; DBDS Genomic Consortium; Mitchell J, Fuchsberger C, Pattaro C, Pramstaller PP, Girelli D, Arvas M, Toivonen J, Molnos S, Peters A, Polasek O, Rudan I, Hayward C, McDonnell C, Pirastu N, Wilson JF, van den Hurk K, Quee F, Ferrucci L, Bandinelli S, Tanaka T, Girotto G, Concas MP, Pecori A, Verweij N, van der Harst P, van de Vegte YJ, Kiemeney LA, Sweep FC, Galesloot TE, Sulem P, Gudbjartsson D, Ferkingstad E; FinnGen Consortium; Djousse L, Cho K, Inouye M, Burgess S, Benyamin B, Oexle K, Swinkels D, Stefansson K, Magnusson M, Ganna A, Gaziano M, Ivey K, Danesh J, Pereira A, Wood AM, Butterworth AS, Di Angelantonio E. Allara E, et al. Among authors: stefansson k. Commun Biol. 2024 Dec 6;7(1):1631. doi: 10.1038/s42003-024-07115-3. Commun Biol. 2024. PMID: 39643614 Free PMC article.
Transformers significantly improve splice site prediction.
Jónsson BA, Halldórsson GH, Árdal S, Rögnvaldsson S, Einarsson E, Sulem P, Guðbjartsson DF, Melsted P, Stefánsson K, Úlfarsson MÖ. Jónsson BA, et al. Among authors: stefansson k. Commun Biol. 2024 Dec 4;7(1):1616. doi: 10.1038/s42003-024-07298-9. Commun Biol. 2024. PMID: 39633146 Free PMC article.
Corroborating written history with ancient DNA: The case of the Well-man described in an Old Norse saga.
Ellegaard MR, Ebenesersdóttir SS, Moore KHS, Petersén A, Vågene ÅJ, Bieker VC, Denham SD, Cavalleri GL, Gilbert E, Werge T, Hansen TF, Kockum I, Alfredsson L, Olsson T, Hovig E, Gilbert MTP, Stefánsson K, Stenøien HK, Helgason A, Martin MD. Ellegaard MR, et al. Among authors: stefansson k. iScience. 2024 Oct 25;27(11):111076. doi: 10.1016/j.isci.2024.111076. eCollection 2024 Nov 15. iScience. 2024. PMID: 39620136 Free PMC article.
Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy.
Zheng SL, Henry A, Cannie D, Lee M, Miller D, McGurk KA, Bond I, Xu X, Issa H, Francis C, De Marvao A, Theotokis PI, Buchan RJ, Speed D, Abner E, Adams L, Aragam KG, Ärnlöv J, Raja AA, Backman JD, Baksi J, Barton PJR, Biddinger KJ, Boersma E, Brandimarto J, Brunak S, Bundgaard H, Carey DJ, Charron P, Cook JP, Cook SA, Denaxas S, Deleuze JF, Doney AS, Elliott P, Erikstrup C, Esko T, Farber-Eger EH, Finan C, Garnier S, Ghouse J, Giedraitis V, Guðbjartsson DF, Haggerty CM, Halliday BP, Helgadottir A, Hemingway H, Hillege HL, Kardys I, Lind L, Lindgren CM, Lowery BD, Manisty C, Margulies KB, Moon JC, Mordi IR, Morley MP, Morris AD, Morris AP, Morton L, Noursadeghi M, Ostrowski SR, Owens AT, Palmer CNA, Pantazis A, Pedersen OBV, Prasad SK, Shekhar A, Smelser DT, Srinivasan S, Stefansson K, Sveinbjörnsson G, Syrris P, Tammesoo ML, Tayal U, Teder-Laving M, Thorgeirsson G, Thorsteinsdottir U, Tragante V, Trégouët DA, Treibel TA, Ullum H, Valdes AM, van Setten J, van Vugt M, Veluchamy A, Verschuren WMM, Villard E, Yang Y; COVIDsortium; DBDS Genomic Consortium; Estonian Biobank Research Team; HERMES Consortium; Asselbergs FW, Cappola TP, Dube MP, Dunn ME, Ellinor PT, Hingorani AD, La… See abstract for full author list ➔ Zheng SL, et al. Among authors: stefansson k. Nat Genet. 2024 Dec;56(12):2646-2658. doi: 10.1038/s41588-024-01952-y. Epub 2024 Nov 21. Nat Genet. 2024. PMID: 39572783 Free PMC article.
1,064 results