Search Results

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2

by Haraldsdottir, Sigurdis, Rafnar, Thorunn, Frankel, Wendy L., Einarsdottir, Sylvia, Sigurdsson, Asgeir, Hampel, Heather, Snaebjornsson, Petur, Masson, Gisli, Weng, Daniel, Arngrimsson, Reynir, Kehr, Birte, Yilmaz, Ahmet, Haraldsson, Stefan, Sulem, Patrick, Stefansson, Tryggvi, Shields, Peter G., Sigurdsson, Fridbjorn, Bekaii-Saab, Tanios, Moller, Pall H., Steinarsdottir, Margret, Alexiusdottir, Kristin, Hitchins, Megan, Pritchard, Colin C., de la Chapelle, Albert, Jonasson, Jon G., Goldberg, Richard M., Stefansson, Kari
Published in Nature Communications (2017)

Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death.

by Sveinbjornsson, Gardar, Olafsdottir, Eva F, Thorolfsdottir, Rosa B, Davidsson, Olafur B, Helgadottir, Anna, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Bjornsson, Eythor, Jensson, Brynjar O, Arnadottir, Gudny A, Kristinsdottir, Hallfridur, Stephensen, Sigurdur S, Oskarsson, Gylfi, Gudbjartsson, Tomas, Sigurdsson, Emil L, Andersen, Karl, Danielsen, Ragnar, Arnar, David O, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, Sulem, Patrick, Thorgeirsson, Gudmundur, Gudbjartsson, Daniel F, Holm, Hilma, Stefansson, Kari
Published in Circulation: Genomic and Precision Medicine (2018)

Cancer as a Complex Phenotype: Pattern of Cancer Distribution within and beyond the Nuclear Family

by Amundadottir, Laufey T, Thorvaldsson, Sverrir, Gudbjartsson, Daniel F, Sulem, Patrick, Kristjansson, Kristleifur, Arnason, Sigurdur, Gulcher, Jeffrey R, Bjornsson, Johannes, Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari
Published in PLoS Medicine (2004)

Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency

by 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
Published in European Journal of Human Genetics (2021)

Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank

by Olafsdottir, Thorhildur, Thorleifsson, Gudmar, Sulem, Patrick, Stefansson, Olafur A., Medek, Helga, Olafsson, Karl, Ingthorsson, Orri, Gudmundsson, Valur, Jonsdottir, Ingileif, Halldorsson, Gisli H., Kristjansson, Ragnar P., Frigge, Michael L., Stefansdottir, Lilja, Sigurdsson, Jon K., Oddsson, Asmundur, Sigurdsson, Asgeir, Eggertsson, Hannes P., Melsted, Pall, Halldorsson, Bjarni V., Lund, Sigrun H., Styrkarsdottir, Unnur, Steinthorsdottir, Valgerdur, Gudmundsson, Julius, Holm, Hilma, Tragante, Vinicius, Asselbergs, Folkert W., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Jonsdottir, Kristin, Rafnar, Thorunn, Stefansson, Kari
Published in Communications Biology (2020)

The BARD1 Cys557Ser Variant and Breast Cancer Risk in Iceland

by Stacey, Simon N, Sulem, Patrick, Johannsson, Oskar T, Helgason, Agnar, Gudmundsson, Julius, Kostic, Jelena P, Kristjansson, Kristleifur, Jonsdottir, Thora, Sigurdsson, Helgi, Hrafnkelsson, Jon, Johannsson, Jakob, Sveinsson, Thorarinn, Myrdal, Gardar, Grimsson, Hlynur Niels, Bergthorsson, Jon T, Amundadottir, Laufey T, Gulcher, Jeffrey R, Thorsteinsdottir, Unnur, Kong, Augustine, Stefansson, Kari
Published in PLoS Medicine (2006)

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

by Haraldsdottir, Sigurdis, Rafnar, Thorunn, Frankel, Wendy L, Einarsdottir, Sylvia, Sigurdsson, Asgeir, Hampel, Heather, Snaebjornsson, Petur, Masson, Gisli, Weng, Daniel, Arngrimsson, Reynir, Kehr, Birte, Yilmaz, Ahmet, Haraldsson, Stefan, Sulem, Patrick, Stefansson, Tryggvi, Shields, Peter G, Sigurdsson, Fridbjorn, Bekaii-Saab, Tanios, Moller, Pall H, Steinarsdottir, Margret, Alexiusdottir, Kristin, Hitchins, Megan, Pritchard, Colin C, de la Chapelle, Albert, Jonasson, Jon G, Goldberg, Richard M, Stefansson, Kari
Published in Nature Communications (2017)

Cancer as a complex phenotype: pattern of cancer distribution within and beyond the nuclear family

by Amundadottir, Laufey T, Thorvaldsson, Sverrir, Gudbjartsson, Daniel F, Sulem, Patrick, Kristjansson, Kristleifur, Arnason, Sigurdur, Gulcher, Jeffrey R, Bjornsson, Johannes, Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari
Published in PLoS Medicine (2004)

CDKN2A Mutations and Melanoma Risk in the Icelandic Population

by Goldstein, Alisa M, Stacey, Simon, Olafsson, Jon, Jonsson, Gudbjörn, Helgason, Agnar, Sulem, Patrick, Sigurgeirsson, Bardur, Benediktsdottir, Kristrun, Thorisdottir, Kristin, Ragnarsson, Rafn, Kjartansson, Jens, Kostic, Jelena, Masson, Gisli, Kristjansson, Kristleifur, Gulcher, Jeffrey, Kong, Augustine, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Tucker, Margaret A, Stefansson, Kari
Published in Journal of Medical Genetics (2008)

CDKN2A Mutations and Melanoma Risk in the Icelandic Population

by Goldstein, Alisa M, Stacey, Simon N, Olafsson, Jon H, Jonsson, Gudbjörn F, Helgason, Agnar, Sulem, Patrick, Sigurgeirsson, Bardur, Benediktsdottir, Kristrun R, Thorisdottir, Kristin, Ragnarsson, Rafn, Kjartansson, Jens, Kostic, Jelena, Masson, Gisli, Kristjansson, Kristleifur, Gulcher, Jeffrey R, Kong, Augustine, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Tucker, Margaret A, Stefansson, Kari
Published in Journal of Medical Genetics (2008)

Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency

by 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
Published in European Journal of Human Genetics (2021)

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2

by Haraldsdottir, Sigurdis, Rafnar, Thorunn, Frankel, Wendy L., Einarsdottir, Sylvia, Sigurdsson, Asgeir, Hampel, Heather, Snaebjornsson, Petur, Masson, Gisli, Weng, Daniel, Arngrimsson, Reynir, Kehr, Birte, Yilmaz, Ahmet, Haraldsson, Stefan, Sulem, Patrick, Stefansson, Tryggvi, Shields, Peter G., Sigurdsson, Fridbjorn, Bekaii-Saab, Tanios, Moller, Pall H., Steinarsdottir, Margret, Alexiusdottir, Kristin, Hitchins, Megan, Pritchard, Colin C., de la Chapelle, Albert, Jonasson, Jon G., Goldberg, Richard M., Stefansson, Kari
Published in Nature Communications (2017)

Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank

by Olafsdottir, Thorhildur, Thorleifsson, Gudmar, Sulem, Patrick, Stefansson, Olafur A., Medek, Helga, Olafsson, Karl, Ingthorsson, Orri, Gudmundsson, Valur, Jonsdottir, Ingileif, Halldorsson, Gisli H., Kristjansson, Ragnar P., Frigge, Michael L., Stefansdottir, Lilja, Sigurdsson, Jon K., Oddsson, Asmundur, Sigurdsson, Asgeir, Eggertsson, Hannes P., Melsted, Pall, Halldorsson, Bjarni V., Lund, Sigrun H., Styrkarsdottir, Unnur, Steinthorsdottir, Valgerdur, Gudmundsson, Julius, Holm, Hilma, Tragante, Vinicius, Asselbergs, Folkert W., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Jonsdottir, Kristin, Rafnar, Thorunn, Stefansson, Kari
Published in Communications Biology (2020)

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

by Gretarsdottir, Solveig, Baas, Annette F, Thorleifsson, Gudmar, Holm, Hilma, den Heijer, Martin, de Vries, Jean-Paul P M, Kranendonk, Steef E, Zeebregts, Clark J A M, van Sterkenburg, Steven M, Geelkerken, Robert H, van Rij, Andre M, Williams, Michael J A, Boll, Albert P M, Kostic, Jelena P, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Walters, G Bragi, Masson, Gisli, Sulem, Patrick, Saemundsdottir, Jona, Mouy, Magali, Magnusson, Kristinn P, Tromp, Gerard, Elmore, James R, Sakalihasan, Natzi, Limet, Raymond, Defraigne, Jean-Olivier, Ferrell, Robert E, Ronkainen, Antti, Ruigrok, Ynte M, Wijmenga, Cisca, Grobbee, Diederick E, Shah, Svati H, Granger, Christopher B, Quyyumi, Arshed A, Vaccarino, Viola, Patel, Riyaz S, Zafari, A Maziar, Levey, Allan I, Austin, Harland, Girelli, Domenico, Pignatti, Pier Franco, Olivieri, Oliviero, Martinelli, Nicola, Malerba, Giovanni, Trabetti, Elisabetta, Becker, Lewis C, Becker, Diane M, Reilly, Muredach P, Rader, Daniel J, Mueller, Thomas, Dieplinger, Benjamin, Haltmayer, Meinhard, Urbonavicius, Sigitas, Lindblad, Bengt, Gottsäter, Anders, Gaetani, Eleonora, Pola, Roberto, Wells, Philip, Rodger, Marc, Forgie, Melissa, Langlois, Nicole, Corral, Javier, Vicente, Vicente, Fontcuberta, Jordi, España, Francisco, Grarup, Niels, Jørgensen, Torben, Witte, Daniel R, Hansen, Torben, Pedersen, Oluf, Aben, Katja K, de Graaf, Jacqueline, Holewijn, Suzanne, Folkersen, Lasse, Franco-Cereceda, Anders, Eriksson, Per, Collier, David A, Stefansson, Hreinn, Steinthorsdottir, Valgerdur, Rafnar, Thorunn, Valdimarsson, Einar M, Magnadottir, Hulda B, Sveinbjornsdottir, Sigurlaug, Olafsson, Isleifur, Magnusson, Magnus Karl, Palmason, Robert, Haraldsdottir, Vilhelmina, Andersen, Karl, Onundarson, Pall T, Thorgeirsson, Gudmundur, Kiemeney, Lambertus A, Powell, Janet T, Carey, David J, Kuivaniemi, Helena, Lindholt, Jes S., Jones, Gregory T, Kong, Augustine, Blankensteijn, Jan D, Matthiasson, Stefan E, Thorsteinsdottir, Unnur, Stefansson, Kari
Published in Nature Genetics (2010)

Weighting sequence variants based on their annotation increases power of whole-genome association studies.

by Sveinbjornsson, Gardar, Albrechtsen, Anders, Zink, Florian, Gudjonsson, Sigurjón A, Oddson, Asmundur, Másson, Gísli, Holm, Hilma, Kong, Augustine, Thorsteinsdottir, Unnur, Sulem, Patrick, Gudbjartsson, Daniel F, Stefansson, Kari
Published in Nature Genetics (2016)

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

by Gretarsdottir, Solveig, Baas, Annette F, Thorleifsson, Gudmar, Holm, Hilma, den Heijer, Martin, de Vries, Jean-Paul P M, Kranendonk, Steef E, Zeebregts, Clark J A M, van Sterkenburg, Steven M, Geelkerken, Robert H, van Rij, Andre M, Williams, Michael J A, Boll, Albert P M, Kostic, Jelena P, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Walters, G Bragi, Masson, Gisli, Sulem, Patrick, Saemundsdottir, Jona, Mouy, Magali, Magnusson, Kristinn P, Tromp, Gerard, Elmore, James R, Sakalihasan, Natzi, Limet, Raymond, Defraigne, Jean-Olivier, Ferrell, Robert E, Ronkainen, Antti, Ruigrok, Ynte M, Wijmenga, Cisca, Grobbee, Diederick E, Shah, Svati H, Granger, Christopher B, Quyyumi, Arshed A, Vaccarino, Viola, Patel, Riyaz S, Zafari, A Maziar, Levey, Allan I, Austin, Harland, Girelli, Domenico, Pignatti, Pier Franco, Olivieri, Oliviero, Martinelli, Nicola, Malerba, Giovanni, Trabetti, Elisabetta, Becker, Lewis C, Becker, Diane M, Reilly, Muredach P, Rader, Daniel J
Published in Nature Genetics (2011)

Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank.

by Olafsdottir, Thorhildur, Thorleifsson, Gudmar, Sulem, Patrick, Stefansson, Olafur A, Medek, Helga, Olafsson, Karl, Ingthorsson, Orri, Gudmundsson, Valur, Jonsdottir, Ingileif, Halldorsson, Gisli H, Kristjansson, Ragnar P, Frigge, Michael L, Stefansdottir, Lilja, Sigurdsson, Jon K, Oddsson, Asmundur, Sigurdsson, Asgeir, Eggertsson, Hannes P, Melsted, Pall, Halldorsson, Bjarni V, Lund, Sigrun H, Styrkarsdottir, Unnur, Steinthorsdottir, Valgerdur, Gudmundsson, Julius, Holm, Hilma, Tragante, Vinicius, Asselbergs, Folkert W, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Jonsdottir, Kristin, Rafnar, Thorunn, Stefansson, Kari
Published in Communications Biology (2020)

Large-scale whole-genome sequencing of the Icelandic population

by Gudbjartsson, Daniel F, Helgason, Hannes, Gudjonsson, Sigurjon A, Zink, Florian, Oddson, Asmundur, Gylfason, Arnaldur, Besenbacher, Soren, Magnusson, Gisli, Halldorsson, Bjarni V, Hjartarson, Eirikur, Sigurdsson, Gunnar Th, Stacey, Simon N, Frigge, Michael L, Holm, Hilma, Saemundsdottir, Jona, Helgadottir, Hafdis Th, Johannsdottir, Hrefna, Sigfusson, Gunnlaugur, Thorgeirsson, Gudmundur, Sverrisson, Jon Th, Gretarsdottir, Solveig, Walters, G Bragi, Rafnar, Thorunn, Thjodleifsson, Bjarni, Bjornsson, Einar S, Olafsson, Sigurdur, Thorarinsdottir, Hildur, Steingrimsdottir, Thora, Gudmundsdottir, Thora S, Theodors, Asgeir, Jonasson, Jon G, Sigurdsson, Asgeir, Bjornsdottir, Gyda, Jonsson, Jon J, Thorarensen, Olafur, Ludvigsson, Petur, Gudbjartsson, Hakon, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Olafsson, Isleifur, Arnar, David O, Magnusson, Olafur Th, Kong, Augustine, Masson, Gisli, Thorsteinsdottir, Unnur, Helgason, Agnar, Sulem, Patrick, Stefansson, Kari
Published in Nature Genetics (2015)

Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption

by Sulem, Patrick, Gudbjartsson, Daniel F., Geller, Frank, Prokopenko, Inga, Feenstra, Bjarke, Aben, Katja K.H., Franke, Barbara, den Heijer, Martin, Kovacs, Peter, Stumvoll, Michael, Mägi, Reedik, Yanek, Lisa R., Becker, Lewis C., Boyd, Heather A., Stacey, Simon N., Walters, G. Bragi, Jonsdottir, Adalbjorg, Thorleifsson, Gudmar, Holm, Hilma, Gudjonsson, Sigurjon A., Rafnar, Thorunn, Björnsdottir, Gyda, Becker, Diane M., Melbye, Mads, Kong, Augustine, Tönjes, Anke, Thorgeirsson, Thorgeir, Thorsteinsdottir, Unnur, Kiemeney, Lambertus A., Stefansson, Kari
Published in Human Molecular Genetics (2011)

Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption

by Sulem, Patrick, Gudbjartsson, Daniel F., Geller, Frank, Prokopenko, Inga, Feenstra, Bjarke, Aben, Katja K.H., Franke, Barbara, den Heijer, Martin, Kovacs, Peter, Stumvoll, Michael, Mägi, Reedik, Yanek, Lisa R., Becker, Lewis C., Boyd, Heather A., Stacey, Simon N., Walters, G. Bragi, Jonasdottir, Adalbjorg, Thorleifsson, Gudmar, Holm, Hilma, Gudjonsson, Sigurjon A., Rafnar, Thorunn, Björnsdottir, Gyda, Becker, Diane M., Melbye, Mads, Kong, Augustine, Tönjes, Anke, Thorgeirsson, Thorgeir, Thorsteinsdottir, Unnur, Kiemeney, Lambertus A., Stefansson, Kari
Published in Human Molecular Genetics (2011)