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Browsing by Author "Holm, Hilma"

Browsing by Author "Holm, Hilma"

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    Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults 
    Björnsson, Eyþór; Þorleifsson, Guðmar; Helgadóttir, Anna; Gudnason, Thorarinn; Gudbjartsson, Tomas; Andersen, Karl; Grétarsdóttir, Sólveig; Ólafsson, Ísleifur; Tragante, Vinicius; Ólafsson, Ólafur Hreiðar; Jónsdóttir, Birna; Eyjólfsson, Guðmundur I.; Sigurðardóttir, Ólöf; Thorgeirsson, Gudmundur; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Holm, Hilma; Stefansson, Kari (American Medical Association (AMA), 2020-01-01)
    Importance: Genetic studies have evaluated the influence of blood lipid levels on the risk of coronary artery disease (CAD), but less is known about how they are associated with the extent of coronary atherosclerosis. Objective: To estimate the ...
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    The CRTAC1 protein in plasma associates with osteoarthritis and predicts progression to joint replacements : A Large-Scale Proteomics Scan in Iceland 
    Styrkarsdottir, Unnur; Lund, Sigrun H.; Sævarsdóttir, Sædís; Magnusson, Magnus I.; Gunnarsdottir, Kristbjorg; Norddahl, Gudmundur L.; Frigge, Michael L.; Ivarsdottir, Erna V.; Bjornsdottir, Gyda; Holm, Hilma; Thorgeirsson, Gudmundur; Rafnar, Thorunn; Jónsdóttir, Ingileif; Ingvarsson, Þorvaldur; Jónsson, Helgi; Sulem, Patrick; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Stefansson, Kari (2021-11)
    Objective: Biomarkers for diagnosis and progression of osteoarthritis (OA) are lacking. This study was undertaken to identify circulating biomarkers for OA that could predict disease occurrence and/or progression to joint replacement. Methods: Using ...
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    Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6 
    Prins, Bram P.; Mead, Timothy J.; Brody, Jennifer A.; Sveinbjornsson, Gardar; Ntalla, Ioanna; Bihlmeyer, Nathan A.; van den Berg, Marten; Bork-Jensen, Jette; Cappellani, Stefania; Van Duijvenboden, Stefan; Klena, Nikolai T.; Gabriel, George C.; Liu, Xiaoqin; Gulec, Cagri; Grarup, Niels; Haessler, Jeffrey; Hall, Leanne M.; Iorio, Annamaria; Isaacs, Aaron; Li-Gao, Ruifang; Lin, Honghuang; Liu, Ching-Ti; Lyytikäinen, Leo-Pekka; Marten, Jonathan; Mei, Hao; Müller-Nurasyid, Martina; Orini, Michele; Padmanabhan, Sandosh; Radmanesh, Farid; Ramirez, Julia; Robino, Antonietta; Schwartz, Molly; van Setten, Jessica; Smith, Albert Vernon; Verweij, Niek; Warren, Helen R.; Weiss, Stefan; Alonso, Alvaro; Arnar, Davíð O.; Bots, Michiel L.; de Boer, Rudolf A.; Dominiczak, Anna F.; Eijgelsheim, Mark; Ellinor, Patrick T.; Guo, Xiuqing; Felix, Stephan B.; Harris, Tamara B.; Hayward, Caroline; Heckbert, Susan R.; Huang, Paul L.; Jukema, J. Wouter; Kähönen, Mika; Kors, Jan A.; Lambiase, Pier D.; Launer, Lenore J.; Li, Man; Linneberg, Allan; Nelson, Christopher P.; Pedersen, Oluf; Perez, Marco; Peters, Annette; Polasek, Ozren; Psaty, Bruce M.; Raitakari, Olli T.; Rice, Kenneth M.; Rotter, Jerome I.; Sinner, Moritz F.; Soliman, Elsayed Z.; Spector, Tim D.; Strauch, Konstantin; Thorsteinsdottir, Unnur; Tinker, Andrew; Trompet, Stella; Uitterlinden, André; Vaartjes, Ilonca; van der Meer, Peter; Völker, Uwe; Völzke, Henry; Waldenberger, Melanie; Wilson, James G.; Xie, Zhijun; Asselbergs, Folkert W.; Dörr, Marcus; van Duijn, Cornelia M.; Gasparini, Paolo; Gudbjartsson, Daniel; Gudnason, Vilmundur; Hansen, Torben; Kääb, Stefan; Kanters, Jørgen K.; Kooperberg, Charles; Lehtimäki, Terho; Lin, Henry J.; Lubitz, Steven A.; Mook-Kanamori, Dennis O.; Conti, Francesco J.; Newton-Cheh, Christopher H.; Rosand, Jonathan; Rudan, Igor; Samani, Nilesh J.; Sinagra, Gianfranco; Smith, Blair H.; Holm, Hilma; Stricker, Bruno H.; Ulivi, Sheila; Sotoodehnia, Nona; Apte, Suneel S.; van der Harst, Pim; Stefansson, Kari; Munroe, Patricia B.; Arking, Dan E.; Lo, Cecilia W.; Jamshidi, Yalda (Springer Science and Business Media LLC, 2018-07-17)
    Background: Genome-wide association studies conducted on QRS duration, an electrocardiographic measurement associated with heart failure and sudden cardiac death, have led to novel biological insights into cardiac function. However, the variants ...
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    Genetic architecture of band neutrophil fraction in Iceland 
    Oskarsson, Gudjon R.; Magnusson, Magnus K.; Oddsson, Asmundur; Jensson, Brynjar O.; Fridriksdottir, Run; Arnadottir, Gudny A.; Katrinardottir, Hildigunnur; Rognvaldsson, Solvi; Halldorsson, Gisli H.; Sveinbjornsson, Gardar; Ivarsdottir, Erna V.; Stefansdottir, Lilja; Ferkingstad, Egil; Norland, Kristjan; Tragante, Vinicius; Saemundsdottir, Jona; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Sigurjonsdottir, Svanhvit; Petursdottir, Karen O.; Davidsson, Olafur B.; Rafnar, Thorunn; Holm, Hilma; Olafsson, Isleifur; Onundarson, Pall T.; Vidarsson, Brynjar; Sigurdardottir, Olof; Masson, Gisli; Gudbjartsson, Daniel F.; Jonsdottir, Ingileif; Norddahl, Gudmundur L.; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari (2022-06-01)
    The characteristic lobulated nuclear morphology of granulocytes is partially determined by composition of nuclear envelope proteins. Abnormal nuclear morphology is primarily observed as an increased number of hypolobulated immature neutrophils, called ...
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    Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease 
    Helgadottir, Anna; Thorleifsson, Gudmar; Alexandersson, Kristjan F; Tragante, Vinicius; Þorsteinsdóttir, Margrét; Eiriksson, Finnur Freyr; Grétarsdóttir, Sólveig; Björnsson, Eyþór; Magnússon, Ólafur; Sveinbjornsson, Gardar; Jonsdottir, Ingileif; Steinthorsdottir, Valgerdur; Ferkingstad, Egil; Jensson, Brynjar Ö; Stefansson, Hreinn; Olafsson, Isleifur; Christensen, Alex H; Torp-Pedersen, Christian; Køber, Lars; Pedersen, Ole B; Erikstrup, Christian; Sørensen, Erik; Brunak, Søren; Banasik, Karina; Hansen, Thomas F; Nyegaard, Mette; Eyjólfsson, Guðmundur I.; Sigurdardottir, Olof; Þórarinsson, Björn L; Matthíasson, Stefán E.; Steingrimsdottir, Thora; Björnsson, Einar Stefán; Danielsen, Ragnar; Asselbergs, Folkert W.; Arnar, David O; Ullum, Henrik; Bundgaard, Henning; sulem, patrick; Thorsteinsdottir, Unnur; Thorgeirsson, Gudmundur; Holm, Hilma; Gudbjartsson, Daniel; Stefansson, Kari (Oxford University Press (OUP), 2020-07-21)
    Aims: To explore whether variability in dietary cholesterol and phytosterol absorption impacts the risk of coronary artery disease (CAD) using as instruments sequence variants in the ABCG5/8 genes, key regulators of intestinal absorption of dietary ...
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    Genome-wide analysis yields new loci associating with aortic valve stenosis 
    Helgadottir, Anna; Thorleifsson, Gudmar; Grétarsdóttir, Sólveig; Stefánsson, Ólafur A.; Tragante, Vinicius; Þórólfsdóttir, Rósa B.; Jonsdottir, Ingileif; Björnsson, Þorsteinn; Steinthorsdottir, Valgerdur; Verweij, Niek; Nielsen, Jonas B.; Zhou, Wei; Folkersen, Lasse; Martinsson, Andreas; Heydarpour, Mahyar; Prakash, Siddharth; Óskarsson, Gylfi; Gudbjartsson, Tomas; Geirsson, Arnar; Olafsson, Isleifur; Sigurðsson, Emil Lárus; Almgren, Peter; Melander, Olle; Franco-Cereceda, Anders; Hamsten, Anders; Fritsche, Lars; Lin, Maoxuan; Yang, Bo; Hornsby, Whitney; Guo, Dongchuan; Brummett, Chad M.; Abecasis, Gonçalo; Mathis, Michael; Milewicz, Dianna; Body, Simon C.; Eriksson, Per; Willer, Cristen J.; Hveem, Kristian; Newton-Cheh, Christopher; Smith, J. Gustav; Danielsen, Ragnar; Thorgeirsson, Gudmundur; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Holm, Hilma; Stefansson, Kari (Springer Nature, 2018-03-07)
    Aortic valve stenosis (AS) is the most common valvular heart disease, and valve replacement is the only definitive treatment. Here we report a large genome-wide association (GWA) study of 2,457 Icelandic AS cases and 349,342 controls with a follow-up ...
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    Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank 
    Ólafsdóttir, Thorhildur; Thorleifsson, Gudmar; sulem, patrick; Stefánsson, Ólafur A.; Medek, Helga; Olafsson, Karl; Ingþórsson, Orri; Guðmundsson, Valur; Jonsdottir, Ingileif; Halldorsson, Gisli; Kristjansson, Ragnar; Frigge, Michael L.; Stefánsdóttir, Lilja; Sigurðsson, Jón K.; Oddsson, Asmundur; Sigurðsson, Ásgeir; Eggertsson, Hannes P.; Melsted, Páll; Halldórsson, Bjarni; Lund, Sigrún Helga; Styrkarsdottir, Unnur; Steinthorsdottir, Valgerdur; Gudmundsson, Julius; Holm, Hilma; Tragante do O, Vinicius; Asselbergs, Folkert; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Jónsdóttir, Kristín; Rafnar, Thorunn; Stefansson, Kari (Springer Science and Business Media LLC, 2020-03-17)
    Pelvic organ prolapse (POP) is a downward descent of one or more of the pelvic organs, resulting in a protrusion of the vaginal wall and/or uterus. We performed a genome-wide association study of POP using data from Iceland and the UK Biobank, a total ...
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    Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria 
    Teumer, Alexander; Li, Yong; Ghasemi, Sahar; Prins, Bram P.; Wuttke, Matthias; Hermle, Tobias; Giri, Ayush; Sieber, Karsten B.; Qiu, Chengxiang; Kirsten, Holger; Tin, Adrienne; Chu, Audrey Y.; Bansal, Nisha; Feitosa, Mary F.; Wang, Lihua; Chai, Jin-Fang; Cocca, Massimiliano; Fuchsberger, Christian; Gorski, Mathias; Hoppmann, Anselm; Horn, Katrin; Li, Man; Marten, Jonathan; Noce, Damia; Nutile, Teresa; Sedaghat, Sanaz; Sveinbjornsson, Gardar; Tayo, Bamidele O.; van der Most, Peter J.; Xu, Yizhe; Yu, Zhi; Gerstner, Lea; Ärnlöv, Johan; Bakker, Stephan J. L.; Baptista, Daniela; Biggs, Mary L.; Boerwinkle, Eric; Brenner, Hermann; Burkhardt, Ralph; Carroll, Robert J.; Chee, Miao-Li; Chee, Miao-Ling; Chen, Mengmeng; Cheng, Ching-Yu; Cook, James P.; Coresh, Josef; Corre, Tanguy; Danesh, John; de Borst, Martin H.; De Grandi, Alessandro; de Mutsert, Renée; de Vries, Aiko P. J.; Degenhardt, Frauke; Dittrich, Katalin; Divers, Jasmin; Eckardt, Kai-Uwe; Ehret, Georg; Endlich, Karlhans; Felix, Janine F.; Franco, Oscar H.; Franke, Andre; Freedman, Barry I.; Freitag-Wolf, Sandra; Gansevoort, Ron T.; Giedraitis, Vilmantas; Gögele, Martin; Grundner-Culemann, Franziska; Gudbjartsson, Daniel; Gudnason, Vilmundur; Hamet, Pavel; Harris, Tamara B.; Hicks, Andrew A.; Holm, Hilma; Foo, Valencia Hui Xian; Hwang, Shih-Jen; Ikram, M. Arfan; Ingelsson, Erik; Jaddoe, Vincent W. V.; Jakobsdottir, Johanna; Josyula, Navya Shilpa; Jung, Bettina; Kähönen, Mika; Khor, Chiea-Chuen; Kiess, Wieland; Koenig, Wolfgang; Körner, Antje; Kovacs, Peter; Kramer, Holly; Krämer, Bernhard K.; Kronenberg, Florian; Lange, Leslie A.; Langefeld, Carl D.; Lee, Jeannette Jen-Mai; Lehtimäki, Terho; Lieb, Wolfgang; Lim, Su-Chi; Lind, Lars; Lindgren, Cecilia M.; Liu, Jianjun; Loeffler, Markus; Lyytikäinen, Leo-Pekka; Mahajan, Anubha; Maranville, Joseph C.; Mascalzoni, Deborah; McMullen, Barbara; Meisinger, Christa; Meitinger, Thomas; Miliku, Kozeta; Mook-Kanamori, Dennis O.; Müller-Nurasyid, Martina; Mychaleckyj, Josyf C.; Nauck, Matthias; Nikus, Kjell; Ning, Boting; Noordam, Raymond; Connell, Jeffrey O’; Olafsson, Isleifur; Palmer, Nicholette D.; Peters, Annette; Podgornaia, Anna I.; Ponte, Belen; Poulain, Tanja; Pramstaller, Peter P.; Rabelink, Ton J.; Raffield, Laura M.; Reilly, Dermot F.; Rettig, Rainer; Rheinberger, Myriam; Rice, Kenneth M.; Rivadeneira, Fernando; Runz, Heiko; Ryan, Kathleen A.; Sabanayagam, Charumathi; Saum, Kai-Uwe; Schöttker, Ben; Shaffer, Christian M.; Shi, Yuan; Smith, Albert Vernon; Strauch, Konstantin; Stumvoll, Michael; Sun, Benjamin B.; Szymczak, Silke; Tai, E-Shyong; Tan, Nicholas Y. Q.; Taylor, Kent D.; Teren, Andrej; Tham, Yih-Chung; Thiery, Joachim; Thio, Chris H. L.; Thomsen, Hauke; Thorsteinsdottir, Unnur; Tönjes, Anke; Tremblay, Johanne; Uitterlinden, André G.; van der Harst, Pim; Verweij, Niek; Vogelezang, Suzanne; Völker, Uwe; Waldenberger, Melanie; Wang, Chaolong; Wilson, Otis D.; Wong, Charlene; Wong, Tien-Yin; Yang, Qiong; Yasuda, Masayuki; Akilesh, Shreeram; Bochud, Murielle; Böger, Carsten A.; Devuyst, Olivier; Edwards, Todd L.; Ho, Kevin; Morris, Andrew P.; Parsa, Afshin; Pendergrass, Sarah A.; Psaty, Bruce M.; Rotter, Jerome I.; Stefansson, Kari; Wilson, James G.; Susztak, Katalin; Snieder, Harold; Heid, Iris M.; Scholz, Markus; Butterworth, Adam S.; Hung, Adriana M.; Pattaro, Cristian; Köttgen, Anna (Springer Science and Business Media LLC, 2019-09-11)
    Increased levels of the urinary albumin-to-creatinine ratio (UACR) are associated with higher risk of kidney disease progression and cardiovascular events, but underlying mechanisms are incompletely understood. Here, we conduct trans-ethnic (n = 564,257) ...
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    Genome-wide association meta-analysis yields 20 loci associated with gallstone disease 
    Ferkingstad, Egil; Oddsson, Asmundur; Gretarsdottir, Solveig; Benonisdottir, Stefania; Thorleifsson, Gudmar; Deaton, Aimee M.; Jónsson, Stefán; Stefánsson, Ólafur A.; Norðdahl, Guðmundur L.; Zink, Florian; Arnadottir, Gudny; Gunnarsson, Bjarni; Halldorsson, Gisli; Helgadottir, Anna; Jensson, Brynjar Örn; Kristjánsson, Ragnar P.; Sveinbjornsson, Gardar; Sverrisson, Davíð A.; Másson, Gísli; Olafsson, Isleifur; Eyjólfsson, Guðmundur I.; Sigurðardóttir, Ólöf; Holm, Hilma; Jonsdottir, Ingileif; Ólafsson, Sigurður; Steingrimsdottir, Thora; Rafnar, Thorunn; Björnsson, Einar Stefán; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; sulem, patrick; Stefansson, Kari (Springer Science and Business Media LLC, 2018-11-30)
    Gallstones are responsible for one of the most common diseases in the Western world and are commonly treated with cholecystectomy. We perform a meta-analysis of two genomewide association studies of gallstone disease in Iceland and the UK, totaling ...
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    Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA 
    Gudmundsson, Julius; Sigurðsson, Jón K.; Stefánsdóttir, Lilja; Agnarsson, Bjarni A.; Ísaksson, Helgi J.; Stefánsson, Ólafur A.; Guðjónsson, Sigurjón Axel; Gudbjartsson, Daniel; Másson, Gísli; Frigge, Michael L.; Stacey, Simon N.; sulem, patrick; Halldorsson, Gisli; Tragante, Vinicius; Holm, Hilma; Eyjólfsson, Guðmundur I.; Sigurðardóttir, Ólöf; Olafsson, Isleifur; Jónsson, Þorvaldur; Jónsson, Eirikur; Barkardottir, Rosa Bjork; Hilmarsson, Rafn; Asselbergs, Folkert W.; Geirsson, Guðmundur; Thorsteinsdottir, Unnur; Rafnar, Thorunn; Thorleifsson, Gudmar; Stefansson, Kari (Springer Science and Business Media LLC, 2018-11-08)
    Benign prostatic hyperplasia and associated lower urinary tract symptoms (BPH/LUTS) are common conditions affecting the majority of elderly males. Here we report the results of a genome-wide association study of symptomatic BPH/LUTS in 20,621 patients ...
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    A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo 
    Skuladottir, Astros Th; Bjornsdottir, Gyda; Nawaz, Muhammad Sulaman; Petersen, Hannes; Rognvaldsson, Solvi; Moore, Kristjan Helgi Swerford; Olafsson, Pall I.; Magnusson, Sigurður H.; Bjornsdottir, Anna; Sveinsson, Olafur A.; Sigurdardottir, Gudrun R.; Sævarsdóttir, Sædís; Ivarsdottir, Erna V.; Stefánsdóttir, Lilja; Gunnarsson, Bjarni; Muhlestein, Joseph B.; Knowlton, Kirk U.; Jones, David A.; Nadauld, Lincoln D.; Hartmann, Annette M.; Rujescu, Dan; Strupp, Michael; Walters, Guðmundur Bragi; Thorgeirsson, Thorgeir E.; Jónsdóttir, Ingileif; Holm, Hilma; Thorleifsson, Gudmar; Gudbjartsson, Daniel F.; Sulem, Patrick; Stefansson, Hreinn; Stefansson, Kari (2021-10-07)
    Vertigo is the leading symptom of vestibular disorders and a major risk factor for falls. In a genome-wide association study of vertigo (Ncases = 48,072, Ncontrols = 894,541), we uncovered an association with six common sequence variants in individuals ...
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    GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures 
    Styrkarsdottir, Unnur; Stefansson, Olafur A.; Gunnarsdottir, Kristbjorg; Thorleifsson, Gudmar; Lund, Sigrún Helga; Stefansdottir, Lilja; Juliusson, Kristinn; Ágústsdóttir, Arna B.; Zink, Florian; Halldorsson, Gisli; Ivarsdottir, Erna V.; Benonisdottir, Stefania; Jonsson, Hakon; Gylfason, Arnaldur; Norland, Kristjan; Trajanoska, Katerina; Boer, Cindy G.; Southam, Lorraine; Leung, Jason C. S.; Tang, Nelson L. S.; Kwok, Timothy C. Y.; Lee, Jenny S. W.; Ho, Suzanne C.; Byrjalsen, Inger; Center, Jacqueline R.; Lee, Seung Hun; Koh, Jung-Min; Lohmander, L. Stefan; Ho-Pham, Lan T.; Nguyen, Tuan V.; Eisman, John A.; Woo, Jean; Leung, Ping-C.; Loughlin, John; Zeggini, Eleftheria; Christiansen, Claus; Rivadeneira, Fernando; van Meurs, Joyce; Uitterlinden, Andre G.; Mogensen, Brynjólfur; Jonsson, Helgi; Ingvarsson, Þorvaldur; Sigurdsson, Gunnar; Benediktsson, Rafn; sulem, patrick; Jonsdottir, Ingileif; Másson, Gísli; Holm, Hilma; Norddahl, Gudmundur L.; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Stefansson, Kari (Springer Science and Business Media LLC, 2019-05-03)
    Bone area is one measure of bone size that is easily derived from dual-energy X-ray absorptiometry (DXA) scans. In a GWA study of DXA bone area of the hip and lumbar spine (N ≥ 28,954), we find thirteen independent association signals at twelve loci ...
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    HLA alleles, disease severity, and age associate with T-cell responses following infection with SARS-CoV-2 
    Olafsdottir, Thorunn A; Bjarnadottir, Kristbjorg; Norddahl, Gudmundur L.; Halldórsson, Gísli Hreinn; Melsted, Páll; Gunnarsdottir, Kristbjorg; Ivarsdottir, Erna; Olafsdottir, Thorhildur; Arnthorsson, Asgeir O; Theodors, Fannar; Eyþórsson, Elías Sæbjörn; Helgason, Dadi; Eggertsson, Hannes P.; Masson, Gisli; Bjarnadottir, Solveig; Sævarsdóttir, Sædís; Runólfsdóttir, Hrafnhildur L.; Ólafsson, Ísleifur; Saemundsdottir, Jona; Sigurðsson, Martin Ingi; Ingvarsson, Ragnar Freyr; Pálsson, Runólfur; Thorgeirsson, Gudmundur; Halldórsson, Bjarni Vilhjálmur; Holm, Hilma; Kristjánsson, Már; Sulem, Patrick; Þorsteinsdóttir, Unnur; Jónsdóttir, Ingileif; Gudbjartsson, Daniel F; Stefansson, Kari (2022-09-06)
    Memory T-cell responses following SARS-CoV-2 infection have been extensively investigated but many studies have been small with a limited range of disease severity. Here we analyze SARS-CoV-2 reactive T-cell responses in 768 convalescent SARS-CoV-2-infected ...
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    A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease 
    Arnadottir, Gudny; Norðdahl, Guðmundur L.; Gudmundsdottir, Steinunn; Ágústsdóttir, Arna B.; Sigurðsson, Snævar; Jensson, Brynjar Örn; Bjarnadóttir, Kristbjörg; Theodórs, Fannar; Benonisdottir, Stefania; Ívarsdóttir, Erna V.; Oddsson, Asmundur; Kristjánsson, Ragnar P.; Sulem, Gerald; Alexandersson, Kristján F.; Júlíusdóttir, Þórhildur; Guðmundsson, Kjartan R.; Sæmundsdóttir, Jóna; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Sigurðsson, Ásgeir; Manzanillo, Paolo; Guðjónsson, Sigurjón Axel; Thorisson, Gudmundur A.; Magnússon, Ólafur Þ.; Másson, Gísli; Örvar, Kjartan B.; Holm, Hilma; Björnsson, Sigurður; Arngrimsson, Reynir; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Jonsdottir, Ingileif; Haraldsson, Ásgeir; sulem, patrick; Stefansson, Kari (Springer Science and Business Media LLC, 2018-10-25)
    Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary immunodeficiency. Here we describe how deficiency of CYBC1, a previously uncharacterized protein ...
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    Lipoprotein(a) Concentration and Risks of Cardiovascular Disease and Diabetes 
    Gudbjartsson, Daniel; Thorgeirsson, Gudmundur; sulem, patrick; Helgadottir, Anna; Gylfason, Arnaldur; Sæmundsdóttir, Jóna; Björnsson, Eyþór; Norðdahl, Guðmundur L.; Jónasdóttir, Áslaug; Jónasdóttir, Aðalbjörg; Eggertsson, Hannes; Grétarsdóttir, Sólveig; Thorleifsson, Gudmar; Indridason, Olafur Skuli; Palsson, Runolfur; Jónasson, Friðbert; Jonsdottir, Ingileif; Eyjólfsson, Guðmundur I.; Sigurðardóttir, Ólöf; Ólafsson, Ísleifur; Danielsen, Ragnar; Matthíasson, Stefán E.; Kristmundsdóttir, Snædís; Halldórsson, Bjarni V.; Hreiðarsson, Ástráður Benedikt; Valdimarsson, Einar M.; Gudnason, Thorarinn; Benediktsson, Rafn; Steinthorsdottir, Valgerdur; Thorsteinsdottir, Unnur; Holm, Hilma; Stefansson, Kari (Elsevier BV, 2019-12-17)
    Background: Lipoprotein(a) [Lp(a)] is a causal risk factor for cardiovascular diseases that has no established therapy. The attribute of Lp(a) that affects cardiovascular risk is not established. Low levels of Lp(a) have been associated with type 2 ...
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    Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction 
    Ntalla, Ioanna; Weng, Lu-Chen; Cartwright, James H.; Hall, Amelia Weber; Sveinbjornsson, Gardar; Tucker, Nathan R.; Choi, Seung Hoan; Chaffin, Mark D.; Roselli, Carolina; Barnes, Michael R.; Mifsud, Borbala; Warren, Helen R.; Hayward, Caroline; Marten, Jonathan; Cranley, James J.; Concas, Maria Pina; Gasparini, Paolo; Boutin, Thibaud; Kolcic, Ivana; Polasek, Ozren; Rudan, Igor; Araujo, Nathalia M.; Lima-Costa, Maria Fernanda; Ribeiro, Antonio Luiz P.; Souza, Renan P.; Tarazona-Santos, Eduardo; Giedraitis, Vilmantas; Ingelsson, Erik; Mahajan, Anubha; Morris, Andrew P.; Del Greco M, Fabiola; Foco, Luisa; Gögele, Martin; Hicks, Andrew A.; Cook, James P.; Lind, Lars; Lindgren, Cecilia M.; Sundström, Johan; Nelson, Christopher P.; Riaz, Muhammad B.; Samani, Nilesh J.; Sinagra, Gianfranco; Ulivi, Sheila; Kähönen, Mika; Mishra, Pashupati P.; Mononen, Nina; Nikus, Kjell; Caulfield, Mark J.; Dominiczak, Anna; Padmanabhan, Sandosh; Montasser, May E.; O’Connell, Jeff R.; Ryan, Kathleen; Shuldiner, Alan R.; Aeschbacher, Stefanie; Conen, David; Risch, Lorenz; Thériault, Sébastien; Hutri-Kähönen, Nina; Lehtimäki, Terho; Lyytikäinen, Leo-Pekka; Raitakari, Olli T.; Barnes, Catriona L. K.; Campbell, Harry; Joshi, Peter K.; Wilson, James F.; Isaacs, Aaron; Kors, Jan A.; van Duijn, Cornelia M.; Huang, Paul L.; Gudnason, Vilmundur; Harris, Tamara B.; Launer, Lenore J.; Smith, Albert Vernon; Bottinger, Erwin P.; Loos, Ruth J. F.; Nadkarni, Girish N.; Preuss, Michael H.; Correa, Adolfo; Mei, Hao; Wilson, James; Meitinger, Thomas; Müller-Nurasyid, Martina; Peters, Annette; Waldenberger, Melanie; Mangino, Massimo; Spector, Timothy D.; Rienstra, Michiel; van de Vegte, Yordi J.; van der Harst, Pim; Verweij, Niek; Kääb, Stefan; Schramm, Katharina; Sinner, Moritz F.; Strauch, Konstantin; Cutler, Michael J.; Fatkin, Diane; London, Barry; Olesen, Morten; Roden, Dan M.; Benjamin Shoemaker, M.; Gustav Smith, J.; Biggs, Mary L.; Bis, Joshua C.; Brody, Jennifer A.; Psaty, Bruce M.; Rice, Kenneth; Sotoodehnia, Nona; De Grandi, Alessandro; Fuchsberger, Christian; Pattaro, Cristian; Pramstaller, Peter P.; Ford, Ian; Wouter Jukema, J.; Macfarlane, Peter W.; Trompet, Stella; Dörr, Marcus; Felix, Stephan B.; Völker, Uwe; Weiss, Stefan; Havulinna, Aki S.; Jula, Antti; Sääksjärvi, Katri; Salomaa, Veikko; Guo, Xiuqing; Heckbert, Susan R.; Lin, Henry J.; Rotter, Jerome I.; Taylor, Kent D.; Yao, Jie; de Mutsert, Renée; Maan, Arie C.; Mook-Kanamori, Dennis O.; Noordam, Raymond; Cucca, Francesco; Ding, Jun; Lakatta, Edward G.; Qian, Yong; Tarasov, Kirill V.; Levy, Daniel; Lin, Honghuang; Newton-Cheh, Christopher H.; Lunetta, Kathryn L.; Murray, Alison D.; Porteous, David J.; Smith, Blair H.; Stricker, Bruno H.; Uitterlinden, André; van den Berg, Marten E.; Haessler, Jeffrey; Jackson, Rebecca D.; Kooperberg, Charles; Peters, Ulrike; Reiner, Alexander P.; Whitsel, Eric A.; Alonso, Alvaro; Arking, Dan E.; Boerwinkle, Eric; Ehret, Georg B.; Soliman, Elsayed Z.; Avery, Christy L.; Gogarten, Stephanie M.; Kerr, Kathleen F.; Laurie, Cathy C.; Seyerle, Amanda A.; Stilp, Adrienne; Assa, Solmaz; Abdullah Said, M.; Yldau van der Ende, M.; Lambiase, Pier D.; Orini, Michele; Ramirez, Julia; Van Duijvenboden, Stefan; Arnar, Davíð O.; Gudbjartsson, Daniel; Holm, Hilma; sulem, patrick; Thorleifsson, Gudmar; Thorolfsdottir, Rosa B; Thorsteinsdottir, Unnur; Benjamin, Emelia J.; Tinker, Andrew; Stefansson, Kari; Ellinor, Patrick T.; Jamshidi, Yalda; Lubitz, Steven A.; Munroe, Patricia B. (Springer Science and Business Media LLC, 2020-05-21)
    The electrocardiographic PR interval reflects atrioventricular conduction, and is associated with conduction abnormalities, pacemaker implantation, atrial fibrillation (AF), and cardiovascular mortality. Here we report a multi-ancestry (N = 293,051) ...
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    Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene 
    Arnadottir, Gudny A.; Oddsson, Asmundur; Jensson, Brynjar O.; Gisladottir, Svanborg; Simon, Mariella T.; Arnthorsson, Asgeir O.; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Ivarsdottir, Erna V.; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Barrick, Rebekah; Saemundsdottir, Jona; le Roux, Louise; Oskarsson, Gudjon R.; Asmundsson, Jurate; Steffensen, Thora; Gudmundsson, Kjartan R.; Ludvigsson, Petur; Jonsson, Jon J.; Masson, Gisli; Jonsdottir, Ingileif; Holm, Hilma; Jonasson, Jon G.; Magnusson, Olafur Th; Thorarensen, Olafur; Abdenur, Jose; Norddahl, Gudmundur L.; Gudbjartsson, Daniel F.; Bjornsson, Hans T.; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari (2022-02-04)
    Predicting the pathogenicity of biallelic missense variants can be challenging. Here, we use a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially ...
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    PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity 
    van Setten, Jessica; Brody, Jennifer A.; Jamshidi, Yalda; Swenson, Brenton R.; Butler, Anne M.; Campbell, Harry; Del Greco, Fabiola M.; Evans, Daniel S.; Gibson, Quince; Gudbjartsson, Daniel; Kerr, Kathleen F.; Krijthe, Bouwe P.; Lyytikäinen, Leo-Pekka; Müller, Christian; Müller-Nurasyid, Martina; Nolte, Ilja M.; Padmanabhan, Sandosh; Ritchie, Marylyn D.; Robino, Antonietta; Smith, Albert Vernon; Steri, Maristella; Tanaka, Toshiko; Teumer, Alexander; Trompet, Stella; Ulivi, Sheila; Verweij, Niek; Yin, Xiaoyan; Arnar, Davíð O.; Asselbergs, Folkert W.; Bader, Joel S.; Barnard, John; Bis, Josh; Blankenberg, Stefan; Boerwinkle, Eric; Bradford, Yuki; Buckley, Brendan M.; Chung, Mina K.; Crawford, Dana; den Hoed, Marcel; Denny, Josh C.; Dominiczak, Anna F.; Ehret, Georg B.; Eijgelsheim, Mark; Ellinor, Patrick T.; Felix, Stephan B.; Franco, Oscar H.; Franke, Lude; Harris, Tamara B.; Holm, Hilma; Ilaria, Gandin; Iorio, Annamaria; Kähönen, Mika; Kolcic, Ivana; Kors, Jan A.; Lakatta, Edward G.; Launer, Lenore J.; Lin, Honghuang; Lin, Henry J.; Loos, Ruth J. F.; Lubitz, Steven A.; Macfarlane, Peter W.; Magnani, Jared W.; Leach, Irene Mateo; Meitinger, Thomas; Mitchell, Braxton D.; Munzel, Thomas; Papanicolaou, George J.; Peters, Annette; Pfeufer, Arne; Pramstaller, Peter P.; Raitakari, Olli T.; Rotter, Jerome I.; Rudan, Igor; Samani, Nilesh J.; Schlessinger, David; Silva Aldana, Claudia T.; Sinner, Moritz F.; Smith, Jonathan D.; Snieder, Harold; Soliman, Elsayed Z.; Spector, Timothy D.; Stott, David J.; Strauch, Konstantin; Tarasov, Kirill V.; Þorsteinsdóttir, Unnur; Uitterlinden, Andre G.; Van Wagoner, David R.; Völker, Uwe; Völzke, Henry; Waldenberger, Melanie; Jan Westra, Harm; Wild, Philipp S.; Zeller, Tanja; Alonso, Alvaro; Avery, Christy L.; Bandinelli, Stefania; Benjamin, Emelia J.; Cucca, Francesco; Dörr, Marcus; Ferrucci, Luigi; Gasparini, Paolo; Gudnason, Vilmundur; Hayward, Caroline; Heckbert, Susan R.; Hicks, Andrew A.; Jukema, J. Wouter; Kääb, Stefan; Lehtimäki, Terho; Liu, Yongmei; Munroe, Patricia B.; Parsa, Afshin; Polasek, Ozren; Psaty, Bruce M.; Roden, Dan M.; Schnabel, Renate B.; Sinagra, Gianfranco; Stefansson, Kari; Stricker, Bruno H.; van der Harst, Pim; van Duijn, Cornelia M.; Wilson, James F.; Gharib, Sina A.; de Bakker, Paul I. W.; Isaacs, Aaron; Arking, Dan E.; Sotoodehnia, Nona (Springer Science and Business Media LLC, 2018-07-25)
    Electrocardiographic PR interval measures atrio-ventricular depolarization and conduction, and abnormal PR interval is a risk factor for atrial fibrillation and heart block. Our genome-wide association study of over 92,000 European-descent individuals ...
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    Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis 
    Óskarsson, Guðjón R.; Oddsson, Asmundur; Magnusson, Magnus Karl; Kristjansson, Ragnar; Halldorsson, Gisli; Ferkingstad, Egil; Zink, Florian; Helgadottir, Anna; Ívarsdóttir, Erna V.; Arnadottir, Gudny; Jensson, Brynjar Örn; Katrinardottir, Hildigunnur; Sveinbjornsson, Gardar; Kristinsdóttir, Anna Margrét; Lee, Amy L.; Sæmundsdóttir, Jóna; Stefánsdóttir, Lilja; Sigurðsson, Jón K.; Davíðsson, Ólafur B.; Benonisdottir, Stefania; Jónasdóttir, Áslaug; Jónasdóttir, Aðalbjörg; Jonsson, Stefan; Guðmundsson, Reynir L.; Asselbergs, Folkert W.; Tragante, Vinicius; Gunnarsson, Bjarni; Másson, Gísli; Thorleifsson, Gudmar; Rafnar, Thorunn; Holm, Hilma; Olafsson, Isleifur; Önundarson, Páll Torfi; Gudbjartsson, Daniel; Norðdahl, Guðmundur L.; Thorsteinsdottir, Unnur; sulem, patrick; Stefansson, Kari (Springer Science and Business Media LLC, 2020-04-23)
    Hemoglobin is the essential oxygen-carrying molecule in humans and is regulated by cellular iron and oxygen sensing mechanisms. To search for novel variants associated with hemoglobin concentration, we performed genome-wide association studies of ...
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    Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis 
    Oskarsson, Gudjon R.; Oddsson, Asmundur; Magnusson, Magnus K.; Kristjansson, Ragnar P.; Halldorsson, Gisli H.; Ferkingstad, Egil; Zink, Florian; Helgadottir, Anna; Ivarsdottir, Erna V.; Arnadottir, Gudny A.; Jensson, Brynjar O.; Katrinardottir, Hildigunnur; Sveinbjornsson, Gardar; Kristinsdottir, Anna M.; Lee, Amy L.; Saemundsdottir, Jona; Stefansdottir, Lilja; Sigurdsson, Jon K.; Davidsson, Olafur B.; Benonisdottir, Stefania; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Jonsson, Stefan; Gudmundsson, Reynir L.; Asselbergs, Folkert W.; Tragante, Vinicius; Gunnarsson, Bjarni; Masson, Gisli; Thorleifsson, Gudmar; Rafnar, Thorunn; Holm, Hilma; Olafsson, Isleifur; Onundarson, Pall T.; Gudbjartsson, Daniel F.; Norddahl, Gudmundur L.; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari (2020-04-23)
    Hemoglobin is the essential oxygen-carrying molecule in humans and is regulated by cellular iron and oxygen sensing mechanisms. To search for novel variants associated with hemoglobin concentration, we performed genome-wide association studies of ...