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Page 1
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: holm h. medRxiv [Preprint]. 2024 Jul 5:2024.07.04.24309755. doi: 10.1101/2024.07.04.24309755. medRxiv. 2024. PMID: 39006410 Free PMC article. Preprint.
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: holm h. JAMA Cardiol. 2024 Feb 1;9(2):165-172. doi: 10.1001/jamacardio.2023.4820. JAMA Cardiol. 2024. PMID: 38150231 Free PMC article.
Genome-Wide Association Study of Accessory Atrioventricular Pathways.
Aegisdottir HM, Andreasen L, Thorolfsdottir RB, Sveinbjornsson G, Jonsdottir AB, Stefansdottir L, Thorleifsson G, Sigurdsson A, Halldorsson GH, Barc J, Simonet F, Tragante V, Oddsson A, Ferkingstad E, Svendsen JH, Ghouse J, Ahlberg G, Paludan-Müller C, Hadji-Turdeghal K, Bustamante M, Ulfarsson MO, Helgadottir A, Gretarsdottir S, Saevarsdottir S, Jonsdottir I, Erikstrup C, Ullum H, Sørensen E, Brunak S, Jøns C, Zheng C, Bezzina CR, Knowlton KU, Nadauld LD, Sulem P, Ostrowski SR, Pedersen OB, Arnar DO, Gudbjartsson DF, Olesen MS, Bundgaard H, Holm H, Stefansson K; DBDS consortium. Aegisdottir HM, et al. Among authors: holm h. JAMA Cardiol. 2024 Nov 1;9(11):1053-1058. doi: 10.1001/jamacardio.2024.2684. JAMA Cardiol. 2024. PMID: 39230897
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: holm h. 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.
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: holm 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.
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: holm h. 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.
Actionable Genotypes and Their Association with Life Span in Iceland.
Jensson BO, Arnadottir GA, Katrinardottir H, Fridriksdottir R, Helgason H, Oddsson A, Sveinbjornsson G, Eggertsson HP, Halldorsson GH, Atlason BA, Jonsson H, Oskarsson GR, Sturluson A, Gudjonsson SA, Thorisson GA, Zink F, Moore KHS, Palsson G, Sigurdsson A, Jonasdottir A, Jonasdottir A, Magnusson MK, Helgadottir A, Steinthorsdottir V, Gudmundsson J, Stacey SN, Hilmarsson R, Olafsson I, Johannsson OT, Arnar DO, Saemundsdottir J, Magnusson OT, Masson G, Halldorsson BV, Helgason A, Stefansson H, Jonsdottir I, Holm H, Rafnar T, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K, Sulem P. Jensson BO, et al. Among authors: holm h. N Engl J Med. 2023 Nov 9;389(19):1741-1752. doi: 10.1056/NEJMoa2300792. N Engl J Med. 2023. PMID: 37937776
Patient-reported outcome measures in orthopaedics.
Hansen ST, Jensen RS, Holm HA, Liljensøe A. Hansen ST, et al. Among authors: holm ha. Dan Med J. 2024 Oct 8;71(11):A03240193. doi: 10.61409/A03240193. Dan Med J. 2024. PMID: 39575940 Free 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, Lang CC, … See abstract for full author list ➔ Zheng SL, et al. Among authors: holm h. 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.
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: holm h. Nat Commun. 2024 Nov 12;15(1):9335. doi: 10.1038/s41467-024-53568-9. Nat Commun. 2024. PMID: 39532837 Free PMC article.
581 results