Factor B Mutation in Monozygotic Twins Discordant for Atypical Hemolytic Uremic Syndrome

por Aradottir, Sigridur Sunna, Kristoffersson, Ann-Charlotte, Jensson, Brynjar O., Sulem, Patrick, Gong, Henning, Palsson, Runolfur, Karpman, Diana
Publicado 2023

PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes

por Niehus, Sebastian, Jónsson, Hákon, Schönberger, Janina, Björnsson, Eythór, Beyter, Doruk, Eggertsson, Hannes P., Sulem, Patrick, Stefánsson, Kári, Halldórsson, Bjarni V., Kehr, Birte
Publicado 2021

Relatedness disequilibrium regression estimates heritability without environmental bias

por Young, Alexander I., Frigge, Michael L., Gudbjartsson, Daniel F., Thorleifsson, Gudmar, Bjornsdottir, Gyda, Sulem, Patrick, Masson, Gisli, Thorsteinsdottir, Unnur, Stefansson, Kari, Kong, Augustine
Publicado 2018

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

por 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
Publicado 2004

Multi-nucleotide de novo Mutations in Humans

por Besenbacher, Søren, Sulem, Patrick, Helgason, Agnar, Helgason, Hannes, Kristjansson, Helgi, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Magnusson, Olafur Th., Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Gudbjartsson, Daniel F., Stefansson, Kari
Publicado 2016

Effect of booster vaccination against Delta and Omicron SARS-CoV-2 variants in Iceland

por Norddahl, Gudmundur L., Melsted, Pall, Gunnarsdottir, Kristbjorg, Halldorsson, Gisli H., Olafsdottir, Thorunn A., Gylfason, Arnaldur, Kristjansson, Mar, Magnusson, Olafur T., Sulem, Patrick, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Stefansson, Kari
Publicado 2022

Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease

por Helgadottir, Anna, Sulem, Patrick, Thorgeirsson, Gudmundur, Gretarsdottir, Solveig, Thorleifsson, Gudmar, Jensson, Brynjar Ö, Arnadottir, Gudny A, Olafsson, Isleifur, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Holm, Hilma, Stefansson, Kari
Publicado 2018

The rate of meiotic gene conversion varies by sex and age

por Halldorsson, Bjarni V., Hardarson, Marteinn T., Kehr, Birte, Styrkarsdottir, Unnur, Gylfason, Arnaldur, Thorleifsson, Gudmar, Zink, Florian, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sulem, Patrick, Masson, Gisli, Thorsteinsdottir, Unnur, Helgason, Agnar, Kong, Augustine, Gudbjartsson, Daniel F., Stefansson, Kari
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 variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density

por Ivarsdottir, Erna V., Benonisdottir, Stefania, Thorleifsson, Gudmar, Sulem, Patrick, Oddsson, Asmundur, Styrkarsdottir, Unnur, Kristmundsdottir, Snaedis, Arnadottir, Gudny A., Thorgeirsson, Gudmundur, Jonsdottir, Ingileif, Zoega, Gunnar M., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Jonasson, Fridbert, Holm, Hilma, Stefansson, Kari
Publicado 2019

Common and rare variants associated with kidney stones and biochemical traits

por 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
Publicado 2015

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

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

por 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
Publicado 2021

The BARD1 Cys557Ser Variant and Breast Cancer Risk in Iceland

por 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
Publicado 2006

Predicting the probability of death using proteomics

por Eiriksdottir, Thjodbjorg, Ardal, Steinthor, Jonsson, Benedikt A., Lund, Sigrun H., Ivarsdottir, Erna V., Norland, Kristjan, Ferkingstad, Egil, Stefansson, Hreinn, Jonsdottir, Ingileif, Holm, Hilma, Rafnar, Thorunn, Saemundsdottir, Jona, Norddahl, Gudmundur L., Thorgeirsson, Gudmundur, Gudbjartsson, Daniel F., Sulem, Patrick, Thorsteinsdottir, Unnur, Stefansson, Kari, Ulfarsson, Magnus O.
Publicado 2021

Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases

por Gudbjartsson, Daniel F., Holm, Hilma, Indridason, Olafur S., Thorleifsson, Gudmar, Edvardsson, Vidar, Sulem, Patrick, de Vegt, Femmie, d'Ancona, Frank C. H., den Heijer, Martin, Franzson, Leifur, Rafnar, Thorunn, Kristjansson, Kristleifur, Bjornsdottir, Unnur S., Eyjolfsson, Gudmundur I., Kiemeney, Lambertus A., Kong, Augustine, Palsson, Runolfur, Thorsteinsdottir, Unnur, Stefansson, Kari
Publicado 2010

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

A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta

por Bjornsson, Thorsteinn, Thorolfsdottir, Rosa B, Sveinbjornsson, Gardar, Sulem, Patrick, Norddahl, Gudmundur L, Helgadottir, Anna, Gretarsdottir, Solveig, Magnusdottir, Audur, Danielsen, Ragnar, Sigurdsson, Emil L, Adalsteinsdottir, Berglind, Gunnarsson, Sverrir I, Jonsdottir, Ingileif, Arnar, David O, Helgason, Hrodmar, Gudbjartsson, Tomas, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Holm, Hilma, Stefansson, Kari
Publicado 2018

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

Correction: Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases

por Gudbjartsson, Daniel F., Holm, Hilma, Indridason, Olafur S., Thorleifsson, Gudmar, Edvardsson, Vidar, Sulem, Patrick, de Vegt, Femmie, d'Ancona, Frank C. H., den Heijer, Martin, Wetzels, Jack F. M., Franzson, Leifur, Rafnar, Thorunn, Kristjansson, Kristleifur, Bjornsdottir, Unnur S., Eyjolfsson, Gudmundur I., Kiemeney, Lambertus A., Kong, Augustine, Palsson, Runolfur, Thorsteinsdottir, Unnur, Stefansson, Kari
Publicado 2010