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Browsing by Author "sulem, patrick"

Browsing by Author "sulem, patrick"

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  • Ulfarsson, Magnus; Walters, G B; Gústafsson, O; Steinberg, S; Silva, A; Doyle, O M; Brammer, M; Gudbjartsson, Daniel; Arnarsdóttir, S; Jonsdottir, Gudbjorg; Gísladóttir, R S; Bjornsdottir, Gyda; Helgason, H; Ellingsen, L M; Halldórsson, J G; Sæmundsen, Evald E.; Stefánsdóttir, B; Jónsson, L; Eiríksdóttir, V K; Eiríksdóttir, G R; Jóhannesdóttir, G H; Unnsteinsdóttir, U; Jónsdóttir, B; Magnúsdóttir, B B; sulem, patrick; Þorsteinsdóttir, Unnur; Sigurðsson, E; Brandeis, D; Meyer-Lindenberg, A; Stefánsson, H; Stefansson, Kari (Springer Nature, 2017-04-25)
    Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1–BP2) ...
  • Clark, David W; Okada, Yukinori; Moore, Kristjan H S; Mason, Dan; Pirastu, Nicola; Gandin, Ilaria; Mattsson, Hannele; Barnes, Catriona L K; Lin, Kuang; Zhao, Jing Hua; Deelen, Patrick; Rohde, Rebecca; Schurmann, Claudia; Guo, Xiuqing; Giulianini, Franco; Zhang, Weihua; Medina-Gomez, Carolina; Karlsson, Robert; Bao, Yanchun; Bartz, Traci M; Baumbach, Clemens; Biino, Ginevra; Bixley, Matthew J; Brumat, Marco; Chai, Jin-Fang; Corre, Tanguy; Cousminer, Diana L; Dekker, Annelot M; Eccles, David A; van Eijk, Kristel R; Fuchsberger, Christian; Gao, He; Germain, Marine; Gordon, Scott D; de Haan, Hugoline G; Harris, Sarah E; Hofer, Edith; Huerta-Chagoya, Alicia; Igartua, Catherine; Jansen, Iris E; Jia, Yucheng; Kacprowski, Tim; Karlsson, Torgny; Kleber, Marcus E; Li, Shengchao Alfred; Li-Gao, Ruifang; Mahajan, Anubha; Matsuda, Koichi; Meidtner, Karina; Meng, Weihua; Montasser, May E; van der Most, Peter J; Munz, Matthias; Nutile, Teresa; Palviainen, Teemu; Prasad, Gauri; Prasad, Rashmi B; Priyanka, Tallapragada Divya Sri; Rizzi, Federica; Salvi, Erika; Sapkota, Bishwa R; Shriner, Daniel; Skotte, Line; Smart, Melissa C; Smith, Albert Vernon; van der Spek, Ashley; Spracklen, Cassandra N; Strawbridge, Rona J; Tajuddin, Salman M; Trompet, Stella; Turman, Constance; Verweij, Niek; Viberti, Clara; Wang, Lihua; Warren, Helen R; Wootton, Robyn E; Yanek, Lisa R; Yao, Jie; Yousri, Noha A; Zhao, Wei; Adeyemo, Adebowale A; Afaq, Saima; Aguilar-Salinas, Carlos Alberto; Akiyama, Masato; Albert, Matthew L; Allison, Matthew A; Alver, Maris; Aung, Tin; Azizi, Fereidoun; Bentley, Amy R; Boeing, Heiner; Boerwinkle, Eric; Borja, Judith B; de Borst, Gert J; Bottinger, Erwin P; Broer, Linda; Campbell, Harry; Chanock, Stephen; Chee, Miao-Li; Chen, Guanjie; Chen, Yii-Der I; Chen, Zhengming; Chiu, Yen-Feng; Cocca, Massimiliano; Collins, Francis S; Concas, Maria Pina; Corley, Janie; Cugliari, Giovanni; van Dam, Rob M; Damulina, Anna; Daneshpour, Maryam S; Day, Felix R; Delgado, Graciela E; Dhana, Klodian; Doney, Alexander S F; Dörr, Marcus; Doumatey, Ayo P; Dzimiri, Nduna; Ebenesersdóttir, Sigríður Sunna; Elliott, Joshua; Elliott, Paul; Ewert, Ralf; Felix, Janine F; Fischer, Krista; Freedman, Barry I; Girotto, Giorgia; Goel, Anuj; Gögele, Martin; Goodarzi, Mark O; Graff, Mariaelisa; Granot-Hershkovitz, Einat; Grodstein, Francine; Guarrera, Simonetta; Gudbjartsson, Daniel; Guity, Kamran; Gunnarsson, Bjarni; Guo, Yu; Hagenaars, Saskia P; Haiman, Christopher A; Halevy, Avner; Harris, Tamara B; Hedayati, Mehdi; van Heel, David A; Hirata, Makoto; Höfer, Imo; Hsiung, Chao Agnes; Huang, Jinyan; Hung, Yi-Jen; Ikram, M Arfan; Jagadeesan, Anuradha; Jousilahti, Pekka; Kamatani, Yoichiro; Kanai, Masahiro; Kerrison, Nicola D; Kessler, Thorsten; Khaw, Kay-Tee; Khor, Chiea Chuen; de Kleijn, Dominique P V; Koh, Woon-Puay; Kolcic, Ivana; Kraft, Peter; Krämer, Bernhard K; Kutalik, Zoltán; Kuusisto, Johanna; Langenberg, Claudia; Launer, Lenore J; Lawlor, Deborah A; Lee, I-Te; Lee, Wen-Jane; Lerch, Markus M; Li, Liming; Liu, Jianjun; Loh, Marie; London, Stephanie J; Loomis, Stephanie; Lu, Yingchang; Luan, Jian’an; Mägi, Reedik; Manichaikul, Ani W; Manunta, Paolo; Másson, Gísli; Matoba, Nana; Mei, Xue W; Meisinger, Christa; Meitinger, Thomas; Mezzavilla, Massimo; Milani, Lili; Millwood, Iona Y; Momozawa, Yukihide; Moore, Amy; Morange, Pierre-Emmanuel; Moreno-Macías, Hortensia; Mori, Trevor A; Morrison, Alanna C; Muka, Taulant; Murakami, Yoshinori; Murray, Alison D; de Mutsert, Renée; Mychaleckyj, Josyf C; Nalls, Mike A; Nauck, Matthias; Neville, Matt J; Nolte, Ilja M; Ong, Ken K; Orozco, Lorena; Padmanabhan, Sandosh; Pálsson, Gunnar; Pankow, James S; Pattaro, Cristian; Pattie, Alison; Polasek, Ozren; Poulter, Neil; Pramstaller, Peter P; Quintana-Murci, Lluis; Räikkönen, Katri; Ralhan, Sarju; Rao, Dabeeru C; van Rheenen, Wouter; Rich, Stephen S; Ridker, Paul M; Rietveld, Cornelius A; Robino, Antonietta; van Rooij, Frank J A; Ruggiero, Daniela; Saba, Yasaman; Sabanayagam, Charumathi; Sabater-Lleal, Maria; Sala, Cinzia Felicita; Salomaa, Veikko; Sandow, Kevin; Schmidt, Helena; Scott, Laura J; Scott, William R; Sedaghati-Khayat, Bahareh; Sennblad, Bengt; van Setten, Jessica; Sever, Peter J; Sheu, Wayne H-H; Shi, Yuan; Shrestha, Smeeta; Shukla, Sharvari Rahul; Sigurðsson, Jón K.; Sikka, Timo Tonis; Singh, Jai Rup; Smith, Blair H.; Stančáková, Alena; Stanton, Alice; Starr, John M; Stefánsdóttir, Lilja; Straker, Leon; Sulem, Patrick; Sveinbjornsson, Gardar; Swertz, Morris A; Taylor, Adele M; Taylor, Kent D; Terzikhan, Natalie; Tham, Yih-Chung; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Tillander, Annika; Tracy, Russell P; Tusié-Luna, Teresa; Tzoulaki, Ioanna; Vaccargiu, Simona; Vangipurapu, Jagadish; Veldink, Jan H; Vitart, Veronique; Völker, Uwe; Vuoksimaa, Eero; Wakil, Salma M; Waldenberger, Melanie; Wander, Gurpreet S; Wang, Ya Xing; Wareham, Nicholas J; Wild, Sarah; Yajnik, Chittaranjan S; Yuan, Jian-Min; Zeng, Lingyao; Zhang, Liang; Zhou, Jie; Amin, Najaf; Asselbergs, Folkert W; Bakker, Stephan J L; Becker, Diane M; Lehne, Benjamin; Bennett, David A; van den Berg, Leonard H; Berndt, Sonja I; Bharadwaj, Dwaipayan; Bielak, Lawrence F; Bochud, Murielle; Boehnke, Mike; Bouchard, Claude; Bradfield, Jonathan P; Brody, Jennifer A; Campbell, Archie; Carmi, Shai; Caulfield, Mark J; Cesarini, David; Chambers, John C; Chandak, Giriraj Ratan; Cheng, Ching-Yu; Ciullo, Marina; Cornelis, Marilyn; Cusi, Daniele; Smith, George Davey; Deary, Ian J; Dorajoo, Rajkumar; van Duijn, Cornelia M; Ellinghaus, David; Erdmann, Jeanette; Eriksson, Johan G; Evangelou, Evangelos; Evans, Michele K; Faul, Jessica D; Feenstra, Bjarke; Feitosa, Mary; Foisy, Sylvain; Franke, Andre; Friedlander, Yechiel; Gasparini, Paolo; Gieger, Christian; Gonzalez, Clicerio; Goyette, Philippe; Grant, Struan F A; Griffiths, Lyn R; Groop, Leif; Gudnason, Vilmundur; Gyllensten, Ulf; Hakonarson, Hakon; Hamsten, Anders; van der Harst, Pim; Heng, Chew-Kiat; Hicks, Andrew A; Hochner, Hagit; Huikuri, Heikki; Hunt, Steven C; Jaddoe, Vincent W V; De Jager, Philip L; Johannesson, Magnus; Johansson, Åsa; Jonas, Jost B; Jukema, J. Wouter; Junttila, Juhani; Kaprio, Jaakko; Kardia, Sharon L. R.; Karpe, Fredrik; Kumari, Meena; Laakso, Markku; van der Laan, Sander W; Lahti, Jari; Laudes, Matthias; Lea, Rodney A; Lieb, Wolfgang; Lumley, Thomas; Martin, Nicholas G; März, Winfried; Matullo, Giuseppe; McCarthy, Mark I; Medland, Sarah E; Merriman, Tony R; Metspalu, Andres; Meyer, Brian F; Mohlke, Karen L; Montgomery, Grant W; Mook-Kanamori, Dennis; Munroe, Patricia B; North, Kari E; Nyholt, Dale R; O’connell, Jeffery R; Ober, Carole; Oldehinkel, Albertine J; Palmas, Walter; Palmer, Colin; Pasterkamp, Gerard G; Patin, Etienne; Pennell, Craig E; Perusse, Louis; Peyser, Patricia A; Pirastu, Mario; Polderman, Tinca J. C.; Porteous, David J; Posthuma, Danielle; Psaty, Bruce M; Rioux, John D; Rivadeneira, Fernando; Rotimi, Charles; Rotter, Jerome I; Rudan, Igor; Den Ruijter, Hester M; Sanghera, Dharambir K; Sattar, Naveed; Schmidt, Reinhold; Schulze, Matthias B; Schunkert, Heribert; Scott, Robert A; Shuldiner, Alan R; Sim, Xueling; Small, Neil; Smith, Jennifer A; Sotoodehnia, Nona; Tai, E-Shyong; Teumer, Alexander; Timpson, Nicholas J; Toniolo, Daniela; Tregouet, David-Alexandre; Tuomi, Tiinamaija; Vollenweider, Peter; Wang, Carol A; Weir, David R; Whitfield, John B; Wijmenga, Cisca; Wong, Tien-Yin; Wright, John; Yang, Jingyun; Yu, Lei; Zemel, Babette S; Zonderman, Alan B; Perola, Markus; Magnusson, Patrik K. E.; Uitterlinden, André G; Kooner, Jaspal S; Chasman, Daniel I; Loos, Ruth J. F.; Franceschini, Nora; Franke, Lude; Haley, Chris S; Hayward, Caroline; Walters, Robin G; Perry, John R. B.; Esko, Tōnu; Helgason, Agnar; Stefansson, Kari; Joshi, Peter K; Kubo, Michiaki; Wilson, James F (Springer Science and Business Media LLC, 2019-10-31)
    In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is ...
  • Haraldsdottir, Sigurdis; Rafnar, Thorunn; Frankel, Wendy L.; Einarsdóttir, Sylvía; Sigurðsson, Ásgeir; Hampel, Heather; Snaebjornsson, Petur; Másson, Gísli; Weng, Daniel; Arngrimsson, Reynir; Kehr, Birte; Yilmaz, Ahmet; Haraldsson, Stefan; sulem, patrick; Stefansson, Tryggvi; Shields, Peter G.; Sigurðsson, Fridbjörn; Bekaii-Saab, Tanios; Moller, Pall H.; Steinarsdóttir, Margrét; Alexíusdóttir, Kristín; Hitchins, Megan; Pritchard, Colin C.; de la Chapelle, Albert; Jónasson, Jón Gunnlaugur; Goldberg, Richard M.; Stefansson, Kari (Springer Nature, 2017-05-03)
    Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch ...
  • Jensson, Brynjar Örn; Hansdottir, Sif; Arnadottir, Gudny; Sulem, Gerald; Kristjansson, Ragnar; Oddsson, Asmundur; Benonisdottir, Stefania; Jónsson, Hákon; Helgason, Agnar; Sæmundsdóttir, Jóna; Magnússon, Ólafur T.; Másson, Gísli; Thorisson, Gudmundur; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Sigurðsson, Ásgeir; Jonsdottir, Ingileif; Pétursdóttir, Vigdís; Kristinsson, Jón R.; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Arngrimsson, Reynir; Sulem, Patrick; Guðmundsson, Gunnar; Stefansson, Kari (Springer Nature, 2017-11-14)
    Background: Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance. Case ...
  • Ólafsson, Sigurgeir; Stridh, Pernilla; Bos, Steffan Daniël; Ingason, Andrés; Euesden, Jack; Sulem, Patrick; Thorleifsson, Gudmar; Gústafsson, Ómar; Jóhannesson, Ari; Geirsson, Árni J.; Þórsson, Árni V.; Sigurgeirsson, Bárður; Ludviksson, Bjorn; Ólafsson, Elías; Kristjansdottir, Helga; Jónasson, Jón G.; Ólafsson, Jón Hjaltalín; Örvar, Kjartan B.; Benediktsson, Rafn; Bjarnason, Ragnar Grímur; Kristjánsdóttir, Sjöfn; Gislason, Thorarinn; Valdimarsson, Trausti; Mikaelsdóttir, Evgenía; Sigurðsson, Snævar; Jonsson, Stefan; Rafnar, Thorunn; Aarsland, Dag; Djurovic, Srdjan; Fladby, Tormod; Knudsen, Gun Peggy; Celius, Elisabeth G.; Myhr, Kjell-Morten; Gröndal, Gerður; Steinsson, Kristján; Valdimarsson, Helgi; Björnsson, Sigurður; Björnsdóttir, Unnur Steina; Björnsson, Einar Stefán; Nilsson, Bjorn; Andreassen, Ole A.; Alfredsson, Lars; Hillert, Jan; Kockum, Ingrid Skelton; Másson, Gísli; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Stefansson, Hreinn; Hjaltason, Haukur; Harbo, Hanne F.; Olsson, Tomas; Jonsdottir, Ingileif; Stefansson, Kari (Springer Nature, 2017-08-08)
    A meta-analysis of publicly available summary statistics on multiple sclerosis combined with three Nordic multiple sclerosis cohorts (21,079 cases, 371,198 controls) revealed seven sequence variants associating with multiple sclerosis, not reported ...
  • 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 ...
  • Guðmundsson, Júlíus; Þorleifsson, Guðmar; Sigurðsson, Jón K.; Stefánsdóttir, Lilja; Jónasson, Jón G.; Guðjónsson, Sigurjón Axel; Gudbjartsson, Daniel; Másson, Gísli; Jóhannsdóttir, Hrefna; Halldórsson, Gísli H.; Stacey, Simon N.; Helgason, Hannes; sulem, patrick; Senter, Leigha; He, Huiling; Liyanarachchi, Sandya; Ringel, Matthew D.; Aguillo, Esperanza; Panadero, Angeles; Prats, Enrique; Garcia-Castaño, Almudena; De Juan, Ana; Rivera, Fernando; Xu, Li; Kiemeney, Lambertus A.; Eyjólfsson, Guðmundur I.; Sigurðardóttir, Ólöf; Ólafsson, Ísleifur; Kristvinsson, Höskuldur; Netea-Maier, Romana T.; Jónsson, Þorvaldur; Mayordomo, Jose I.; Plantinga, Theo S.; Hjartarson, Hannes; Hrafnkelsson, Jón; Sturgis, Erich M.; Þorsteinsdóttir, Unnur; Rafnar, Thorunn; de la Chapelle, Albert; Stefansson, Kari (Springer Nature, 2017-02-14)
    The great majority of thyroid cancers are of the non-medullary type. Here we report findings from a genome-wide association study of non-medullary thyroid cancer, including in total 3,001 patients and 287,550 controls from five study groups of European ...
  • 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 ...
  • 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 ...
  • 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 ...
  • Iordache, Paul; Mates, Dana; Gunnarsson, Bjarni; Eggertsson, Hannes; Sulem, Patrick; Benonisdottir, Stefania; Csiki, Irma Eva; Rascu, Stefan; Radavoi, Daniel; Ursu, Radu; Staicu, Catalin; Calota, Violeta; Voinoiu, Angelica; Jinga, Mariana; Rosoga, Gabriel; Danau, Razvan; Sima, Sorin Cristian; Badescu, Daniel; Suciu, Nicoleta; Radoi, Viorica; Mates, Ioan Nicolae; Dobra, Mihai; Nicolae, Camelia; Kristjansdottir, Sigrun; Jónasson, Jón G.; Manolescu, Andrei; Arnadottir, Gudny; Jensson, Brynjar Örn; Jonasdottir, Aslaug; Sigurdsson, Asgeir; le Roux, Louise; Johannsdottir, Hrefna; Rafnar, Thorunn; Halldórsson, Bjarni; Jinga, Viorel; Stefansson, Kari (Wiley, 2018-10-16)
    Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively. No information ...
  • 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 ...
  • Walters, G. Bragi; Gústafsson, Ómar; Sveinbjornsson, Gardar; Eiriksdottir, Valgerdur Kristin; Ágústsdóttir, Arna B.; Jónsdóttir, Guðrún A.; Steinberg, Stacy; Gunnarsson, Árni F.; Magnússon, Magnús I.; Unnsteinsdóttir, Unnur; Lee, Amy L.; Jónasdóttir, Aðalbjörg; Sigurðsson, Ásgeir; Jónasdóttir, Áslaug; Skúladóttir, Ástrós; Jonsson, Lina; Nawaz, Muhammad S.; Sulem, Patrick; Frigge, Mike; Ingason, Andrés; Love, Askell; Norðdahl, Guðmundur L.; Zervas, Mark; Gudbjartsson, Daniel; Ulfarsson, Magnus; Sæmundsen, Evald E.; Stefansson, Hreinn; Stefansson, Kari (Springer Science and Business Media LLC, 2018-08-27)
    Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Wholegenome sequencing of 31,463 Icelanders uncovers a frameshift variant ...
  • 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) ...
  • 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 ...
  • Iordache, Paul; Mates, Dana; Gunnarsson, Bjarni; Eggertsson, Hannes; Sulem, Patrick; Guðmundsson, Júlíus; Benonisdottir, Stefania; Csiki, Irma Eva; Rascu, Stefan; Radavoi, Daniel; Ursu, Radu; Staicu, Catalin; Calota, Violeta; Voinoiu, Angelica; Jinga, Mariana; Rosoga, Gabriel; Danau, Razvan; Sima, Sorin Cristian; Badescu, Daniel; Suciu, Nicoleta; Radoi, Viorica; Manolescu, Andrei; Rafnar, Thorunn; Halldórsson, Bjarni; Jinga, Viorel; Stefansson, Kari (Wiley, 2017-12-20)
    To find sequence variants affecting prostate cancer (PCA) susceptibility in an unscreened Romanian population we use a genome‐wide association study (GWAS). The study population included 990 unrelated pathologically confirmed PCA cases and 1034 male ...
  • Bjornsdottir, Gyda; Ívarsdóttir, Erna V.; Bjarnadóttir, Kristbjörg; Benonisdottir, Stefania; Gylfadottir, Sandra Sif; Arnadottir, Gudny; Benediktsson, Rafn; Halldorsson, Gisli; Helgadottir, Anna; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Jonsdottir, Ingileif; Kristinsdóttir, Anna Margrét; Magnússon, Ólafur T.; Másson, Gísli; Melsted, Páll; Rafnar, Thorunn; Sigurðsson, Ásgeir; Sigurdsson, Gunnar; Skúladóttir, Ástrós; Steinthorsdottir, Valgerdur; Styrkarsdottir, Unnur; Thorgeirsson, Gudmundur; Thorleifsson, Gudmar; Vikingsson, Arnor; Gudbjartsson, Daniel; Holm, Hilma; Stefansson, Hreinn; Thorsteinsdottir, Unnur; Norðdahl, Guðmundur L.; Sulem, Patrick; Thorgeirsson, Thorgeir; Stefansson, Kari (Springer Science and Business Media LLC, 2019-04-16)
    Nerve conduction (NC) studies generate measures of peripheral nerve function that can reveal underlying pathology due to axonal loss, demyelination or both. We perform a genome-wide association study of sural NC amplitude and velocity in 7045 Icelanders ...
  • Smith, Dirk; Helgason, Hannes; Sulem, Patrick; Björnsdóttir, Unnur Steina; Lim, Ai Ching; Sveinbjornsson, Gardar; Hasegawa, Haruki; Brown, Michael; Ketchem, Randal R.; Gavala, Monica; Garrett, Logan; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Sigurðsson, Ásgeir; Magnússon, Ólafur T.; Eyjólfsson, Guðmundur I.; Ólafsson, Ísleifur; Önundarson, Páll Torfi; Sigurðardóttir, Ólöf; Gíslason, Davíð; Gislason, Thorarinn; Ludviksson, Bjorn; Lúðvíksdóttir, Dóra; Boezen, H. Marike; Heinzmann, Andrea; Krueger, Marcus; Porsbjerg, Celeste; Ahluwalia, Tarunveer S.; Waage, Johannes; Backer, Vibeke; Deichmann, Klaus A.; Koppelman, Gerard H.; Bønnelykke, Klaus; Bisgaard, Hans; Másson, Gísli; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Johnston, James A.; Jonsdottir, Ingileif; Stefansson, Kari (Public Library of Science (PLoS), 2017-03-08)
    IL-33 is a tissue-derived cytokine that induces and amplifies eosinophilic inflammation and has emerged as a promising new drug target for asthma and allergic disease. Common variants at IL33 and IL1RL1, encoding the IL-33 receptor ST2, associate with ...
  • Björnsson, Þorsteinn; Þórólfsdóttir, Rósa B.; Sveinbjornsson, Gardar; Sulem, Patrick; Norðdahl, Guðmundur L.; Helgadóttir, Anna; Grétarsdóttir, Sólveig; Magnusdóttir, Auður; Danielsen, Ragnar; Sigurðsson, Emil Lárus; Adalsteinsdottir, Berglind; Gunnarsson, Sverrir I; Jonsdottir, Ingileif; Arnar, Davíð O.; Helgason, Hróðmar; Gudbjartsson, Tomas; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Holm, Hilma; Stefansson, Kari (Oxford University Press (OUP), 2018-03-24)
    Aims Coarctation of the aorta (CoA) accounts for 4-8% of congenital heart defects (CHDs) and confers substantial morbidity despite treatment. It is increasingly recognized as a highly heritable condition. The aim of the study was to search for sequence ...
  • Helgadottir, Anna; Sulem, Patrick; Thorgeirsson, Gudmundur; Grétarsdóttir, Sólveig; Thorleifsson, Gudmar; Jensson, Brynjar Örn; Arnadottir, Gudny; Olafsson, Isleifur; Eyjólfsson, Guðmundur I.; Sigurdardottir, Olof; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Holm, Hilma; Stefansson, Kari (Oxford University Press (OUP), 2018-03-27)
    Aims Scavenger receptor Class B Type 1 (SR-BI) is a major receptor for high-density lipoprotein (HDL) that promotes hepatic uptake of cholesterol from HDL. A rare mutation p.P376L, in the gene encoding SR-BI, SCARB1, was recently reported to associate ...