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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: gudbjartsson df. medRxiv [Preprint]. 2024 Jul 5:2024.07.04.24309755. doi: 10.1101/2024.07.04.24309755. medRxiv. 2024. Update in: Am J Hum Genet. 2025 May 20:S0002-9297(25)00179-X. doi: 10.1016/j.ajhg.2025.04.016. PMID: 39006410 Free PMC article. Updated. Preprint.
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: gudbjartsson df. Eur Heart J. 2023 Mar 21;44(12):1070-1080. doi: 10.1093/eurheartj/ehad016. Eur Heart J. 2023. PMID: 36747475
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: gudbjartsson df. JAMA Cardiol. 2024 Nov 1;9(11):1053-1058. doi: 10.1001/jamacardio.2024.2684. JAMA Cardiol. 2024. PMID: 39230897
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and 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, Jurgens SJ, van der Zwaag PA, Alders M, Allouba M, Aguib Y, Santome 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 SA, Bundgaard H, Ullum H, Erikstrup C, Aagaard B, Bruun MT, Christiansen M, Jensen HK, Carere DA, Cummings CT, Fishler K, Tørring 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: gudbjartsson df. Am J Hum Genet. 2025 May 20:S0002-9297(25)00179-X. doi: 10.1016/j.ajhg.2025.04.016. Online ahead of print. Am J Hum Genet. 2025. PMID: 40409267 Free article.
Thirty novel sequence variants impacting human intracranial volume.
Nawaz MS, Einarsson G, Bustamante M, Gisladottir RS, Walters GB, Jonsdottir GA, Skuladottir AT, Bjornsdottir G, Magnusson SH, Asbjornsdottir B, Unnsteinsdottir U, Sigurdsson E, Jonsson PV, Palmadottir VK, Gudjonsson SA, Halldorsson GH, Ferkingstad E, Jonsdottir I, Thorleifsson G, Holm H, Thorsteinsdottir U, Sulem P, Gudbjartsson DF, Stefansson H, Thorgeirsson TE, Ulfarsson MO, Stefansson K. Nawaz MS, et al. Among authors: gudbjartsson df. Brain Commun. 2022 Oct 25;4(6):fcac271. doi: 10.1093/braincomms/fcac271. eCollection 2022. Brain Commun. 2022. PMID: 36415660 Free PMC article.
GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis.
Skuladottir AT, Stefansdottir L, Halldorsson GH, Stefansson OA, Bjornsdottir A, Jonsson P, Palmadottir V, Thorgeirsson TE, Walters GB, Gisladottir RS, Bjornsdottir G, Jonsdottir GA, Sulem P, Gudbjartsson DF, Knowlton KU, Jones DA, Ottas A; Estonian Biobank; Pedersen OB, Didriksen M, Brunak S, Banasik K, Hansen TF, Erikstrup C; DBDS Genomic Consortium; Haavik J, Andreassen OA, Rye D, Igland J, Ostrowski SR, Milani LA, Nadauld LD, Stefansson H, Stefansson K. Skuladottir AT, et al. Among authors: gudbjartsson df. Commun Biol. 2024 Apr 26;7(1):504. doi: 10.1038/s42003-024-06207-4. Commun Biol. 2024. PMID: 38671141 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: gudbjartsson df. 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.
Kjærsgaard Andersen R, Stefansdottir L, Riis PT, Halldorsson G, Ferkingstad E, Oddsson A, Walters B, 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. Kjærsgaard Andersen R, et al. J Am Acad Dermatol. 2025 Apr;92(4):761-772. doi: 10.1016/j.jaad.2024.11.050. Epub 2024 Dec 5. J Am Acad Dermatol. 2025. PMID: 39645042 Free 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
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.
324 results