GORpipe: a query tool for working with sequence data based on a Genomic Ordered Relational (GOR) architecture

por Guðbjartsson, Hákon, Georgsson, Guðmundur Fr., Guðjónsson, Sigurjón A., Valdimarsson, Ragnar þór, Sigurðsson, Jóhann H., Stefánsson, Sigmar K., Másson, Gísli, Magnússon, Gísli, Pálmason, Vilmundur, Stefánsson, Kári
Publicado 2016

Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency

por Runolfsdottir, Hrafnhildur L., Sayer, John A., Indridason, Olafur S., Edvardsson, Vidar O., Jensson, Brynjar O., Arnadottir, Gudny A., Gudjonsson, Sigurjon A., Fridriksdottir, Run, Katrinardottir, Hildigunnur, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari, Palsson, Runolfur
Publicado 2021

Sequence variants from whole genome sequencing a large group of Icelanders

por Gudbjartsson, Daniel F, Sulem, Patrick, Helgason, Hannes, Gylfason, Arnaldur, Gudjonsson, Sigurjon A, Zink, Florian, Oddson, Asmundur, Magnusson, Gisli, Halldorsson, Bjarni V, Hjartarson, Eirikur, Sigurdsson, Gunnar Th., Kong, Augustine, Helgason, Agnar, Masson, Gisli, Magnusson, Olafur Th., Thorsteinsdottir, Unnur, Stefansson, Kari
Publicado 2015

Rate of de novo mutations, father’s age, and disease risk

por Kong, Augustine, Frigge, Michael L., Masson, Gisli, Besenbacher, Soren, Sulem, Patrick, Magnusson, Gisli, Gudjonsson, Sigurjon A., Sigurdsson, Asgeir, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Wong, Wendy, Sigurdsson, Gunnar, Walters, G. Bragi, Steinberg, Stacy, Helgason, Hannes, Thorleifsson, Gudmar, Gudbjartsson, Daniel F., Helgason, Agnar, Magnusson, Olafur Th., Thorsteinsdottir, Unnur, Stefansson, Kari
Publicado 2012

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

por Arnadottir, Gudny A., Jensson, Brynjar O., Marelsson, Sigurdur E., Sulem, Gerald, Oddsson, Asmundur, Kristjansson, Ragnar P., Benonisdottir, Stefania, Gudjonsson, Sigurjon A., Masson, Gisli, Thorisson, Gudmundur A., Saemundsdottir, Jona, Magnusson, Olafur Th., Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Stefansson, Kari
Publicado 2017

Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures

por Styrkarsdottir, Unnur, Thorleifsson, Gudmar, Gudjonsson, Sigurjon A., Sigurdsson, Asgeir, Center, Jacqueline R., Lee, Seung Hun, Nguyen, Tuan V., Kwok, Timothy C.Y., Lee, Jenny S.W., Ho, Suzanne C., Woo, Jean, Leung, Ping-C., Kim, Beom-Jun, Rafnar, Thorunn, Kiemeney, Lambertus A., Ingvarsson, Thorvaldur, Koh, Jung-Min, Tang, Nelson L.S., Eisman, John A., Christiansen, Claus, Sigurdsson, Gunnar, Thorsteinsdottir, Unnur, Stefansson, Kari
Publicado 2016

Thirty novel sequence variants impacting human intracranial volume

por Nawaz, Muhammad Sulaman, Einarsson, Gudmundur, Bustamante, Mariana, Gisladottir, Rosa S, Walters, G Bragi, Jonsdottir, Gudrun A, Skuladottir, Astros Th, Bjornsdottir, Gyda, Magnusson, Sigurdur H, Asbjornsdottir, Bergrun, Unnsteinsdottir, Unnur, Sigurdsson, Engilbert, Jonsson, Palmi V, Palmadottir, Vala Kolbrun, Gudjonsson, Sigurjon A, Halldorsson, Gisli H, Ferkingstad, Egil, Jonsdottir, Ingileif, Thorleifsson, Gudmar, Holm, Hilma, Thorsteinsdottir, Unnur, Sulem, Patrick, Gudbjartsson, Daniel F, Stefansson, Hreinn, Thorgeirsson, Thorgeir E, Ulfarsson, Magnus O, Stefansson, Kari
Publicado 2022

Epigenetic and genetic components of height regulation

por Benonisdottir, Stefania, Oddsson, Asmundur, Helgason, Agnar, Kristjansson, Ragnar P., Sveinbjornsson, Gardar, Oskarsdottir, Arna, Thorleifsson, Gudmar, Davidsson, Olafur B., Arnadottir, Gudny A., Sulem, Gerald, Jensson, Brynjar O., Holm, Hilma, Alexandersson, Kristjan F., Tryggvadottir, Laufey, Walters, G. Bragi, Gudjonsson, Sigurjon A., Ward, Lucas D., Sigurdsson, Jon K., Iordache, Paul D., Frigge, Michael L., Rafnar, Thorunn, Kong, Augustine, Masson, Gisli, Helgason, Hannes, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Sulem, Patrick, Stefansson, Kari
Publicado 2016

Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA

por Gudmundsson, Julius, Sigurdsson, Jon K., Stefansdottir, Lilja, Agnarsson, Bjarni A., Isaksson, Helgi J., Stefansson, Olafur A., Gudjonsson, Sigurjon A., Gudbjartsson, Daniel F., Masson, Gisli, Frigge, Michael L., Stacey, Simon N., Sulem, Patrick, Halldorsson, Gisli H., Tragante, Vinicius, Holm, Hilma, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Olafsson, Isleifur, Jonsson, Thorvaldur, Jonsson, Eirikur, Barkardottir, Rosa B., Hilmarsson, Rafn, Asselbergs, Folkert W., Geirsson, Gudmundur, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Thorleifsson, Gudmar, Stefansson, Kari
Publicado 2018

Sequence variants affecting voice pitch in humans

por Gisladottir, Rosa S., Helgason, Agnar, Halldorsson, Bjarni V., Helgason, Hannes, Borsky, Michal, Chien, Yu-Ren, Gudnason, Jon, Gudjonsson, Sigurjon A., Moisik, Scott, Dediu, Dan, Thorleifsson, Gudmar, Tragante, Vinicius, Bustamante, Mariana, Jonsdottir, Gudrun A., Stefansdottir, Lilja, Rutsdottir, Gudrun, Magnusson, Sigurdur H., Hardarson, Marteinn, Ferkingstad, Egil, Halldorsson, Gisli H., Rognvaldsson, Solvi, Skuladottir, Astros, Ivarsdottir, Erna V., Norddahl, Gudmundur, Thorgeirsson, Gudmundur, Jonsdottir, Ingileif, Ulfarsson, Magnus O., Holm, Hilma, Stefansson, Hreinn, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Sulem, Patrick, Stefansson, Kari
Publicado 2023

Large-scale plasma proteomics comparisons through genetics and disease associations

por Eldjarn, Grimur Hjorleifsson, Ferkingstad, Egil, Lund, Sigrun H., Helgason, Hannes, Magnusson, Olafur Th., Gunnarsdottir, Kristbjorg, Olafsdottir, Thorunn A., Halldorsson, Bjarni V., Olason, Pall I., Zink, Florian, Gudjonsson, Sigurjon A., Sveinbjornsson, Gardar, Magnusson, Magnus I., Helgason, Agnar, Oddsson, Asmundur, Halldorsson, Gisli H., Magnusson, Magnus K., Saevarsdottir, Saedis, Eiriksdottir, Thjodbjorg, Masson, Gisli, Stefansson, Hreinn, Jonsdottir, Ingileif, Holm, Hilma, Rafnar, Thorunn, Melsted, Pall, Saemundsdottir, Jona, Norddahl, Gudmundur L., Thorleifsson, Gudmar, Ulfarsson, Magnus O., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari
Publicado 2023

Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma

por Stacey, Simon N., Sulem, Patrick, Gudbjartsson, Daniel F., Jonasdottir, Aslaug, Thorleifsson, Gudmar, Gudjonsson, Sigurjon A., Masson, Gisli, Gudmundsson, Julius, Sigurgeirsson, Bardur, Benediktsdottir, Kristrun R., Thorisdottir, Kristin, Ragnarsson, Rafn, Fuentelsaz, Victoria, Corredera, Cristina, Grasa, Matilde, Planelles, Dolores, Sanmartin, Onofre, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Hemminki, Kari, Nexø, Bjørn A, Tjønneland, Anne, Overvad, Kim, Johannsdottir, Hrefna, Helgadottir, Hafdis T., Thorsteinsdottir, Unnur, Kong, Augustine, Vogel, Ulla, Kumar, Rajiv, Nagore, Eduardo, Mayordomo, José I., Rafnar, Thorunn, Olafsson, Jon H., Stefansson, Kari
Publicado 2014

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

por Arnadottir, Gudny A., Norddahl, Gudmundur L., Gudmundsdottir, Steinunn, Agustsdottir, Arna B., Sigurdsson, Snaevar, Jensson, Brynjar O., Bjarnadottir, Kristbjorg, Theodors, Fannar, Benonisdottir, Stefania, Ivarsdottir, Erna V., Oddsson, Asmundur, Kristjansson, Ragnar P., Sulem, Gerald, Alexandersson, Kristjan F., Juliusdottir, Thorhildur, Gudmundsson, Kjartan R., Saemundsdottir, Jona, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Manzanillo, Paolo, Gudjonsson, Sigurjon A., Thorisson, Gudmundur A., Magnusson, Olafur Th., Masson, Gisli, Orvar, Kjartan B., Holm, Hilma, Bjornsson, Sigurdur, Arngrimsson, Reynir, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Haraldsson, Asgeir, Sulem, Patrick, Stefansson, Kari
Publicado 2018

New basal cell carcinoma susceptibility loci

por Stacey, Simon N., Helgason, Hannes, Gudjonsson, Sigurjon A., Thorleifsson, Gudmar, Zink, Florian, Sigurdsson, Asgeir, Kehr, Birte, Gudmundsson, Julius, Sulem, Patrick, Sigurgeirsson, Bardur, Benediktsdottir, Kristrun R., Thorisdottir, Kristin, Ragnarsson, Rafn, Fuentelsaz, Victoria, Corredera, Cristina, Gilaberte, Yolanda, Grasa, Matilde, Planelles, Dolores, Sanmartin, Onofre, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Nexø, Bjørn A., Tjønneland, Anne, Overvad, Kim, Jonasson, Jon G., Tryggvadottir, Laufey, Johannsdottir, Hrefna, Kristinsdottir, Anna M., Stefansson, Hreinn, Masson, Gisli, Magnusson, Olafur T., Halldorsson, Bjarni V., Kong, Augustine, Rafnar, Thorunn, Thorsteinsdottir, Unnur, Vogel, Ulla, Kumar, Rajiv, Nagore, Eduardo, Mayordomo, José I., Gudbjartsson, Daniel F., Olafsson, Jon H., Stefansson, Kari
Publicado 2015

A genome-wide association study yields five novel thyroid cancer risk loci

por Gudmundsson, Julius, Thorleifsson, Gudmar, Sigurdsson, Jon K., Stefansdottir, Lilja, Jonasson, Jon G., Gudjonsson, Sigurjon A., Gudbjartsson, Daniel F., Masson, Gisli, Johannsdottir, Hrefna, Halldorsson, Gisli 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., Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Olafsson, Isleifur, Kristvinsson, Hoskuldur, Netea-Maier, Romana T., Jonsson, Thorvaldur, Mayordomo, Jose I., Plantinga, Theo S., Hjartarson, Hannes, Hrafnkelsson, Jon, Sturgis, Erich M., Thorsteinsdottir, Unnur, Rafnar, Thorunn, de la Chapelle, Albert, Stefansson, Kari
Publicado 2017

Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

por Bjornsdottir, Gyda, Stefansdottir, Lilja, Thorleifsson, Gudmar, Sulem, Patrick, Norland, Kristjan, Ferkingstad, Egil, Oddsson, Asmundur, Zink, Florian, Lund, Sigrun H., Nawaz, Muhammad S., Bragi Walters, G., Skuladottir, Astros Th., Gudjonsson, Sigurjon A., Einarsson, Gudmundur, Halldorsson, Gisli H., Bjarnadottir, Valgerdur, Sveinbjornsson, Gardar, Helgadottir, Anna, Styrkarsdottir, Unnur, Gudmundsson, Larus J., Pedersen, Ole B., Hansen, Thomas Folkmann, Werge, Thomas, Banasik, Karina, Troelsen, Anders, Skou, Soren T., Thørner, Lise Wegner, Erikstrup, Christian, Nielsen, Kaspar Rene, Mikkelsen, Susan, Jonsdottir, Ingileif, Bjornsson, Aron, Olafsson, Ingvar H., Ulfarsson, Elfar, Blondal, Josep, Vikingsson, Arnor, Brunak, Soren, Ostrowski, Sisse R., Ullum, Henrik, Thorsteinsdottir, Unnur, Stefansson, Hreinn, Gudbjartsson, Daniel F., Thorgeirsson, Thorgeir E., Stefansson, Kari
Publicado 2022

Author Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

por Bjornsdottir, Gyda, Stefansdottir, Lilja, Thorleifsson, Gudmar, Sulem, Patrick, Norland, Kristjan, Ferkingstad, Egil, Oddsson, Asmundur, Zink, Florian, Lund, Sigrun H., Nawaz, Muhammad S., Bragi Walters, G., Skuladottir, Astros Th., Gudjonsson, Sigurjon A., Einarsson, Gudmundur, Halldorsson, Gisli H., Bjarnadottir, Valgerdur, Sveinbjornsson, Gardar, Helgadottir, Anna, Styrkarsdottir, Unnur, Gudmundsson, Larus J., Pedersen, Ole B., Hansen, Thomas Folkmann, Werge, Thomas, Banasik, Karina, Troelsen, Anders, Skou, Soren T., Thørner, Lise Wegner, Erikstrup, Christian, Nielsen, Kaspar Rene, Mikkelsen, Susan, Jonsdottir, Ingileif, Bjornsson, Aron, Olafsson, Ingvar H., Ulfarsson, Elfar, Blondal, Josep, Vikingsson, Arnor, Brunak, Soren, Ostrowski, Sisse R., Ullum, Henrik, Thorsteinsdottir, Unnur, Stefansson, Hreinn, Gudbjartsson, Daniel F., Thorgeirsson, Thorgeir E., Stefansson, Kari
Publicado 2022

Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer

por Stacey, Simon N., Kehr, Birte, Gudmundsson, Julius, Zink, Florian, Jonasdottir, Aslaug, Gudjonsson, Sigurjon A., Sigurdsson, Asgeir, Halldorsson, Bjarni V., Agnarsson, Bjarni A., Benediktsdottir, Kristrun R., Aben, Katja K.H., Vermeulen, Sita H., Cremers, Ruben G., Panadero, Angeles, Helfand, Brian T., Cooper, Phillip R., Donovan, Jenny L., Hamdy, Freddie C., Jinga, Viorel, Okamoto, Ichiro, Jonasson, Jon G., Tryggvadottir, Laufey, Johannsdottir, Hrefna, Kristinsdottir, Anna M., Masson, Gisli, Magnusson, Olafur T., Iordache, Paul D., Helgason, Agnar, Helgason, Hannes, Sulem, Patrick, Gudbjartsson, Daniel F., Kong, Augustine, Jonsson, Eirikur, Barkardottir, Rosa B., Einarsson, Gudmundur V., Rafnar, Thorunn, Thorsteinsdottir, Unnur, Mates, Ioan N., Neal, David E., Catalona, William J., Mayordomo, José I., Kiemeney, Lambertus A., Thorleifsson, Gudmar, Stefansson, Kari
Publicado 2016

The sequences of 150,119 genomes in the UK Biobank

por Halldorsson, Bjarni V., Eggertsson, Hannes P., Moore, Kristjan H. S., Hauswedell, Hannes, Eiriksson, Ogmundur, Ulfarsson, Magnus O., Palsson, Gunnar, Hardarson, Marteinn T., Oddsson, Asmundur, Jensson, Brynjar O., Kristmundsdottir, Snaedis, Sigurpalsdottir, Brynja D., Stefansson, Olafur A., Beyter, Doruk, Holley, Guillaume, Tragante, Vinicius, Gylfason, Arnaldur, Olason, Pall I., Zink, Florian, Asgeirsdottir, Margret, Sverrisson, Sverrir T., Sigurdsson, Brynjar, Gudjonsson, Sigurjon A., Sigurdsson, Gunnar T., Halldorsson, Gisli H., Sveinbjornsson, Gardar, Norland, Kristjan, Styrkarsdottir, Unnur, Magnusdottir, Droplaug N., Snorradottir, Steinunn, Kristinsson, Kari, Sobech, Emilia, Jonsson, Helgi, Geirsson, Arni J., Olafsson, Isleifur, Jonsson, Palmi, Pedersen, Ole Birger, Erikstrup, Christian, Brunak, Søren, Ostrowski, Sisse Rye, Thorleifsson, Gudmar, Jonsson, Frosti, Melsted, Pall, Jonsdottir, Ingileif, Rafnar, Thorunn, Holm, Hilma, Stefansson, Hreinn, Saemundsdottir, Jona, Gudbjartsson, Daniel F., Magnusson, Olafur T., Masson, Gisli, Thorsteinsdottir, Unnur, Helgason, Agnar, Jonsson, Hakon, Sulem, Patrick, Stefansson, Kari
Publicado 2022

Ancestry-Shift Refinement Mapping of the C6orf97-ESR1 Breast Cancer Susceptibility Locus

por Stacey, Simon N., Sulem, Patrick, Zanon, Carlo, Gudjonsson, Sigurjon A., Thorleifsson, Gudmar, Helgason, Agnar, Jonasdottir, Aslaug, Besenbacher, Soren, Kostic, Jelena P., Fackenthal, James D., Huo, Dezheng, Adebamowo, Clement, Ogundiran, Temidayo, Olson, Janet E., Fredericksen, Zachary S., Wang, Xianshu, Look, Maxime P., Sieuwerts, Anieta M., Martens, John W. M., Pajares, Isabel, Garcia-Prats, Maria D., Ramon-Cajal, Jose M., de Juan, Ana, Panadero, Angeles, Ortega, Eugenia, Aben, Katja K. H., Vermeulen, Sita H., Asadzadeh, Fatemeh, van Engelenburg, K. C. Anton, Margolin, Sara, Shen, Chen-Yang, Wu, Pei-Ei, Försti, Asta, Lenner, Per, Henriksson, Roger, Johansson, Robert, Enquist, Kerstin, Hallmans, Göran, Jonsson, Thorvaldur, Sigurdsson, Helgi, Alexiusdottir, Kristin, Gudmundsson, Julius, Sigurdsson, Asgeir, Frigge, Michael L., Gudmundsson, Larus, Kristjansson, Kristleifur, Halldorsson, Bjarni V., Styrkarsdottir, Unnur, Gulcher, Jeffrey R., Hemminki, Kari, Lindblom, Annika, Kiemeney, Lambertus A., Mayordomo, Jose I., Foekens, John A., Couch, Fergus J., Olopade, Olufunmilayo I., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Rafnar, Thorunn, Johannsson, Oskar T., Stefansson, Kari
Publicado 2010