Search Results

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)

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)

Selection against variants in the genome associated with educational attainment

by Kong, Augustine, Frigge, Michael L., Thorleifsson, Gudmar, Stefansson, Hreinn, Young, Alexander I., Zink, Florian, Jonsdottir, Gudrun A., Okbay, Aysu, Sulem, Patrick, Masson, Gisli, Gudbjartsson, Daniel F., Helgason, Agnar, Bjornsdottir, Gyda, Thorsteinsdottir, Unnur, Stefansson, Kari
Published in Proceedings of the National Academy of Sciences (2017)

Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency

by Runólfsdóttir, Hrafnhildur L., Sayer, John A., Indridason, Olafur S., Eðvarðsson, Viðar Örn, Jensson, Brynjar O., Arnadottir, Gudny A., Gudjonsson, Sigurjon A., Fridriksdottir, Run, Katrinardottir, Hildigunnur, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari, Pálsson, Runólfur
Published in European Journal of Human Genetics (2021)

Nationwide Study on Hypertrophic Cardiomyopathy in Iceland

by Adalsteinsdottir, Berglind, Teekakirikul, Polakit, Maron, Barry J., Burke, Michael A., Gudbjartsson, Daniel F., Holm, Hilma, Stefansson, Kari, DePalma, Steven R., Mazaika, Erica, McDonough, Barbara, Danielsen, Ragnar, Seidman, Jonathan G., Seidman, Christine E., Gunnarsson, Gunnar T.
Published in Circulation (2014)

Common and rare variants associated with kidney stones and biochemical traits.

by Oddsson, Asmundur, Sulem, Patrick, Helgason, Hannes, Edvardsson, Vidar O, Thorleifsson, Gudmar, Sveinbjörnsson, Gardar, Haraldsdottir, Eik, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Olafsson, Isleifur, Masson, Gisli, Holm, Hilma, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Indridason, Olafur S, Palsson, Runolfur, Stefansson, Kari
Published in Nature Communications (2015)

A Nationwide Study on Hypertrophic Cardiomyopathy in Iceland: Evidence of a MYBPC3 Founder Mutation.

by Adalsteinsdottir, Berglind, Teekakirikul, Polakit, Maron, Barry J, Burke, Michael A, Gudbjartsson, Daniel F, Holm, Hilma, Stefansson, Kari, DePalma, Steven R, Mazaika, Erica, McDonough, Barbara, Danielsen, Ragnar, Seidman, Jonathan G, Seidman, Christine E, Gunnarsson, Gunnar Th
Published in Circulation (2014)

Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults

by 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
Published in JAMA Cardiology (2020)

Profiling of genes expressed in peripheral blood mononuclear cells predicts glucocorticoid sensitivity in asthma patients

by Hakonarson, Hakon, Bjornsdottir, Unnur S, Halapi, Eva, Bradfield, Jonathan, Zink, Florian, Mouy, Magali, Helgadottir, Hildur, Gudmundsdottir, Asta S, Andrason, Hjalti, Adalsteinsdottir, Asdis E, Kristjansson, Kristleifur, Birkisson, Illugi, Arnason, Thor, Andresdottir, Margret, Gislason, David, Gislason, Thorarinn, Gulcher, Jeffrey R, Stefansson, Kari
Published in Proceedings of the National Academy of Sciences (2009)

Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

by Björnsson, Eythór, Thorleifsson, Guðmar, Helgadóttir, Anna, Guðnason, Thórarinn, Guðbjartsson, Tómas, Andersen, Karl, Grétarsdóttir, Sólveig, Ólafsson, Ísleifur, Tragante, Vinicius, Ólafsson, Ólafur Hreiðar, Jónsdóttir, Birna, Eyjólfsson, Guðmundur I, Sigurðardóttir, Ólöf, Thorgeirsson, Guðmundur, Guðbjartsson, Daníel F, Thorsteinsdóttir, Unnur, Hólm, Hilma, Stefánsson, Kári
Published in JAMA Cardiology (2020)

Sequence variants from whole genome sequencing a large group of Icelanders

by 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
Published in Scientific Data (2015)

Reconstructing an African haploid genome from the 18th century

by Jagadeesan, Anuradha, Gunnarsdóttir, Ellen D., S. Sunna Ebenesersdóttir, Guðmundsdóttir, Valdis B., Thordardottir, Elisabet Linda, Einarsdóttir, Margrét S., Jónsson, Hákon, Jean-Michel Dugoujon, Fortes-Lima, Cesar, Migot-Nabias, Florence, Massougbodji, Achille, Bellis, Gil, Pereira, Luisa, Másson, Gísli, Kong, Augustine, Stefánsson, Kári, Helgason, Agnar
Published 2017

Reconstructing an African haploid genome from the 18th century

by Jagadeesan, Anuradha, Gunnarsdóttir, Ellen D., S. Sunna Ebenesersdóttir, Guðmundsdóttir, Valdis B., Thordardottir, Elisabet Linda, Einarsdóttir, Margrét S., Jónsson, Hákon, Jean-Michel Dugoujon, Fortes-Lima, Cesar, Migot-Nabias, Florence, Massougbodji, Achille, Bellis, Gil, Pereira, Luisa, Másson, Gísli, Kong, Augustine, Stefánsson, Kári, Helgason, Agnar
Published 2017

Linkage of osteoporosis to chromosome 20p12 and association to BMP2

by Styrkarsdottir, Unnur, Cazier, Jean-Baptiste, Kong, Augustine, Rolfsson, Ottar, Larsen, Helene, Bjarnadottir, Emma, Johannsdottir, Vala D, Sigurdardottir, Margret S, Bagger, Yu, Christiansen, Claus, Reynisdottir, Inga, Grant, Struan F A, Jonasson, Kristjan, Frigge, Michael L, Gulcher, Jeffrey R, Sigurdsson, Gunnar, Stefansson, Kari
Published in PLoS Biology (2007)

Linkage of Osteoporosis to Chromosome 20p12 and Association to BMP2

by Styrkarsdottir, Unnur, Cazier, Jean-Baptiste, Kong, Augustine, Rolfsson, Ottar, Larsen, Helene, Bjarnadottir, Emma, Johannsdottir, Vala D, Sigurdardottir, Margret S, Bagger, Yu, Christiansen, Claus, Reynisdottir, Inga, Grant, Struan F. A, Jonasson, Kristjan, Frigge, Michael L, Gulcher, Jeffrey R, Sigurdsson, Gunnar, Stefansson, Kari
Published in PLoS Biology (2003)

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)

Multiple genetic loci for bone mineral density and fractures

by Styrkarsdottir, Unnur, Halldorsson, Bjarni V, Gretarsdottir, Solveig, Gudbjartsson, Daniel F, Walters, G Bragi, Ingvarsson, Thorvaldur, Jonsdottir, Thorbjorg, Saemundsdottir, Jona, Center, Jacqueline R, Nguyen, Tuan V, Bagger, Yu, Gulcher, Jeffrey R, Eisman, John A, Christiansen, Claus, Sigurdsson, Gunnar, Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari
Published in New England Journal of Medicine (2009)

The CRTAC1 Protein in Plasma Is Associated With Osteoarthritis and Predicts Progression to Joint Replacement: A Large-Scale Proteomics Scan in Iceland.

by Styrkarsdottir, Unnur, Lund, Sigrun H, Saevarsdottir, Saedis, Magnusson, Magnus I, Gunnarsdottir, Kristbjorg, Norddahl, Gudmundur L, Frigge, Michael L, Ivarsdottir, Erna V, Bjornsdottir, Gyda, Holm, Hilma, Thorgeirsson, Gudmundur, Rafnar, Thorunn, Jonsdottir, Ingileif, Ingvarsson, Thorvaldur, Jonsson, Helgi, Sulem, Patrick, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel, Stefansson, Kari
Published in Arthritis & Rheumatology (2022)

The CRTAC1 protein in plasma associates with osteoarthritis and predicts progression to joint replacements : A Large-Scale Proteomics Scan in Iceland

by 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
Published in Arthritis & Rheumatology (2021)

The CRTAC1 Protein in Plasma Is Associated With Osteoarthritis and Predicts Progression to Joint Replacement: A Large‐Scale Proteomics Scan in Iceland

by Styrkarsdottir, Unnur, Lund, Sigrun H., Saevarsdottir, Saedis, Magnusson, Magnus I., Gunnarsdottir, Kristbjorg, Norddahl, Gudmundur L., Frigge, Michael L., Ivarsdottir, Erna V., Bjornsdottir, Gyda, Holm, Hilma, Thorgeirsson, Gudmundur, Rafnar, Thorunn, Jonsdottir, Ingileif, Ingvarsson, Thorvaldur, Jonsson, Helgi, Sulem, Patrick, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel, Stefansson, Kari
Published in Arthritis & Rheumatology (2021)