Search Results

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

by 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
Published in European Heart Journal (2018)

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

by 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
Published in European Heart Journal (2018)

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)

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 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)

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome

by Klemenzdottir, Elin Ola, Arnadottir, Gudny Anna, Jensson, Brynjar Orn, Jonasdottir, Adalbjorg, Katrinardottir, Hildigunnur, Fridriksdottir, Run, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Gudjonsson, Sigurjon Axel, Jonsson, Jon Johannes, Stefansdottir, Vigdis, Danielsen, Ragnar, Palsdottir, Astridur, Jonsson, Hakon, Helgason, Agnar, Magnusson, Olafur Thor, Thorsteinsdottir, Unnur, Bjornsson, Hans Tomas, Stefansson, Kari, Sulem, Patrick
Published in European Journal of Human Genetics (2023)

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome

by Klemenzdottir, Elin Ola, Arnadottir, Gudny A, Jensson, Brynjar Orn, Jonasdottir, Adalbjorg, Katrinardottir, Hildigunnur, Fridriksdottir, Run, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Gudjonsson, Sigurjon Axel, Jónsson, Jón Jóhannes, Stefánsdóttir, Vigdís Fjóla, Danielsen, Ragnar, Palsdottir, Astridur, Jonsson, Hakon, Helgason, Agnar Sturla, Magnusson, Olafur Thor, Thorsteinsdottir, Unnur, Björnsson, Hans Tómas, Stefansson, Kari, Sulem, Patrick
Published in European Journal of Human Genetics (2023)

Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland

by Sveinbjornsson, Gardar, Benediktsdóttir, Bára Dís, Sigfússon, Gunnlaugur, Norland, Kristjan, Davidsson, Olafur B., Thorolfsdottir, Rosa B., Tragante, Vinicius, Arnadottir, Gudny A., Jensson, Brynjar O., Katrinardottir, Hildigunnur, Fridriksdottir, Run, Gudmundsdottir, Hallbera, Ægisdóttir, Hildur Margrét, Fridriksson, Brynjar, Thorgeirsson, Gudmundur, Magnússon, Viðar, Oddsson, Asmundur, Sulem, Patrick, Gudbjartsson, Daniel F., Holm, Hilma, Arnar, Davíð Ottó, Stefánsson, Kári
Published in Journal of the American Heart Association (2023)

Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland

by Sveinbjornsson, Gardar, Benediktsdottir, Bara D., Sigfusson, Gunnlaugur, Norland, Kristjan, Davidsson, Olafur B., Thorolfsdottir, Rosa B., Tragante, Vinicius, Arnadottir, Gudny A., Jensson, Brynjar O., Katrinardottir, Hildigunnur, Fridriksdottir, Run, Gudmundsdottir, Hallbera, Aegisdottir, Hildur M., Fridriksson, Brynjar, Thorgeirsson, Gudmundur, Magnusson, Vidar, Oddsson, Asmundur, Sulem, Patrick, Gudbjartsson, Daniel F., Holm, Hilma, Arnar, David O., Stefansson, Kari
Published in Journal of the American Heart Association (2023)

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)

Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.

by Fridriksdottir, Run, Jonsson, Arnar J, Jensson, Brynjar O, Sverrisson, Kristinn O, Arnadottir, Gudny A, Skarphedinsdottir, Sigurbjorg J, Katrinardottir, Hildigunnur, Snaebjornsdottir, Steinunn, Jonsson, Hakon, Eiriksson, Ogmundur, Oskarsson, Gudjon R, Oddsson, Asmundur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Gisli H, Indridason, Einar P, Sigurdsson, Stefan B, Bjornsdottir, Gyda, Saemundsdottir, Jona, Magnusson, Olafur T, Bjornsson, Hans T, Thorsteinsdottir, Unnur, Sigurdsson, Theodor S, Sulem, Patrick, Sigurdsson, Martin I, Stefansson, Kari
Published in European Journal of Human Genetics (2021)

Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database

by Fridriksdottir, Run, Jonsson, Arnar J., Jensson, Brynjar O., Sverrisson, Kristinn O., Arnadottir, Gudny A., Skarphedinsdottir, Sigurbjorg J., Katrinardottir, Hildigunnur, Snaebjornsdottir, Steinunn, Jonsson, Hakon, Eiriksson, Ogmundur, Oskarsson, Gudjon R., Oddsson, Asmundur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Gisli H., Indridason, Einar P., Sigurdsson, Stefan B., Bjornsdottir, Gyda, Saemundsdottir, Jona, Magnusson, Olafur T., Bjornsson, Hans T., Thorsteinsdottir, Unnur, Sigurdsson, Theodor S., Sulem, Patrick, Sigurdsson, Martin I., Stefansson, Kari
Published in European Journal of Human Genetics (2021)

Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database

by Fridriksdottir, Run, Jonsson, Arnar J., Jensson, Brynjar O., Sverrisson, Kristinn O., Arnadottir, Gudny A., Skarphedinsdottir, Sigurbjorg J., Katrinardottir, Hildigunnur, Snaebjornsdottir, Steinunn, Jonsson, Hakon, Eiriksson, Ogmundur, Oskarsson, Gudjon R., Oddsson, Asmundur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Gisli H., Indridason, Einar P., Sigurdsson, Stefan B., Bjornsdottir, Gyda, Saemundsdottir, Jona, Magnusson, Olafur T., Bjornsson, Hans T., Thorsteinsdottir, Unnur, Sigurdsson, Theodor S., Sulem, Patrick, Sigurdsson, Martin I., Stefansson, Kari
Published in European Journal of Human Genetics (2021)

Sequence variants in malignant hyperthermia genes in Iceland : classification and actionable findings in a population database

by Fridriksdottir, Run, Jónsson, Arnar Jan, Jensson, Brynjar O., Sverrisson, Kristinn O., Arnadottir, Gudny A., Skarphéðinsdóttir, Sigurbjorg J., Katrinardottir, Hildigunnur, Snaebjornsdottir, Steinunn, Jonsson, Hakon, Eiriksson, Ogmundur, Óskarsson, Guðjón Reykdal, Oddsson, Asmundur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Gisli H., Indriðason, Einar Páll, Sigurðsson, Stefán B., Bjornsdottir, Gyda, Saemundsdottir, Jona, Magnusson, Olafur T., Björnsson, Hans Tómas, Thorsteinsdottir, Unnur, Sigurdsson, Theodor S., Sulem, Patrick, Sigurðsson, Martin Ingi, Stefansson, Kari
Published in European Journal of Human Genetics (2021)

The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis

by Ivarsdottir, Erna V., Holm, Hilma, Benonisdottir, Stefania, Olafsdottir, Thorhildur, Sveinbjornsson, Gardar, Thorleifsson, Gudmar, Eggertsson, Hannes P., Halldorsson, Gisli H., Hjorleifsson, Kristjan E., Melsted, Páll, Gylfason, Arnaldur, Arnadottir, Gudny A., Oddsson, Asmundur, Jensson, Brynjar O., Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Juliusdottir, Thorhildur, Stefansdottir, Lilja, Tragante, Vinicius, Halldorsson, Bjarni V., Petersen, Hannes, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Sulem, Patrick, Hinriksdottir, Ingibjorg, Jonsdottir, Ingileif, Gudbjartsson, Daniel F., Stefansson, Kari
Published in Communications Biology (2021)

The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis

by Ivarsdottir, Erna V., Holm, Hilma, Benonisdottir, Stefania, Olafsdottir, Thorhildur, Sveinbjornsson, Gardar, Thorleifsson, Gudmar, Eggertsson, Hannes P., Halldorsson, Gisli H., Hjorleifsson, Kristjan E., Melsted, Pall, Gylfason, Arnaldur, Arnadottir, Gudny A., Oddsson, Asmundur, Jensson, Brynjar O., Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Juliusdottir, Thorhildur, Stefansdottir, Lilja, Tragante, Vinicius, Halldorsson, Bjarni V., Petersen, Hannes, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Sulem, Patrick, Hinriksdottir, Ingibjorg, Jonsdottir, Ingileif, Gudbjartsson, Daniel F., Stefansson, Kari
Published in Communications Biology (2021)

The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis

by Ivarsdottir, Erna V., Holm, Hilma, Benonisdottir, Stefania, Olafsdottir, Thorhildur, Sveinbjornsson, Gardar, Thorleifsson, Gudmar, Eggertsson, Hannes P., Halldorsson, Gisli H., Hjorleifsson, Kristjan E., Melsted, Pall, Gylfason, Arnaldur, Arnadottir, Gudny A., Oddsson, Asmundur, Jensson, Brynjar O., Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Juliusdottir, Thorhildur, Stefansdottir, Lilja, Tragante, Vinicius, Halldorsson, Bjarni V., Petersen, Hannes, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Sulem, Patrick, Hinriksdottir, Ingibjorg, Jonsdottir, Ingileif, Gudbjartsson, Daniel F., Stefansson, Kari
Published in Communications Biology (2021)

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

by Jónsson, Hákon, Sulem, Patrick, Kehr, Birte, Kristmundsdottir, Snaedis, Zink, Florian, Hjartarson, Eirikur, Hardarson, Marteinn T., Hjorleifsson, Kristjan E., Eggertsson, Hannes P., Gudjonsson, Sigurjon Axel, Ward, Lucas D., Arnadottir, Gudny A., Helgason, Einar A., Helgason, Hannes, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Rafnar, Thorunn, Frigge, Mike, Stacey, Simon N., Th. Magnusson, Olafur, Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Halldorsson, Bjarni V., Helgason, Agnar, Gudbjartsson, Daniel F., Stefansson, Kari
Published in Nature (2017)

The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.

by Ivarsdottir, Erna V, Holm, Hilma, Benonisdottir, Stefania, Olafsdottir, Thorhildur, Sveinbjornsson, Gardar, Thorleifsson, Gudmar, Eggertsson, Hannes P, Halldorsson, Gisli H, Hjorleifsson, Kristjan E, Melsted, Pall, Gylfason, Arnaldur, Arnadottir, Gudny A, Oddsson, Asmundur, Jensson, Brynjar O, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Juliusdottir, Thorhildur, Stefansdottir, Lilja, Tragante, Vinicius, Halldorsson, Bjarni V, Petersen, Hannes, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Sulem, Patrick, Hinriksdottir, Ingibjorg, Jonsdottir, Ingileif, Gudbjartsson, Daniel F, Stefansson, Kari
Published in Communications Biology (2021)