Opin vísindi

Fletta eftir höfundi "Arnadottir, Gudny A."

Fletta eftir höfundi "Arnadottir, Gudny A."

Röðun: Raða: Niðurstöður:

  • Icon
    Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency 
    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 (2021-03-11)
    Adenine phosphoribosyltransferase deficiency is a rare, autosomal recessive disorder of purine metabolism that causes nephrolithiasis and progressive chronic kidney disease. The small number of reported cases indicates an extremely low prevalence, ...
  • Icon
    Genetic architecture of band neutrophil fraction in Iceland 
    Oskarsson, Gudjon R.; Magnússon, Magnús Karl; Oddson, Ásmundur; Jensson, Brynjar O; Friðriksdóttir, Rún; Arnadottir, Gudny A; Katrinardottir, Hildigunnur; Rögnvaldsson, Sölvi; Halldórsson, Gísli Hreinn; Sveinbjörnsson, Gardar; Ivarsdottir, Erna V.; Stefánsdóttir, Lilja; Ferkingstad, Egil; Norland, Kristjan; Tragante, Vinicius; Sæmundsdóttir, Jóna; Jónasdóttir, Áslaug; Jonasdottir, Adalbjorg; Sigurjonsdottir, Svanhvit; Petursdottir, Karen O.; Davidsson, Olafur B; Rafnar, Thorunn; Hólm, Hilma; Ólafsson, Ísleifur; Önundarson, Páll Torfi; Viðarsson, Brynjar; Sigurdardottir, Olof G.; Másson, Gísli; Gudbjartsson, Daniel Fannar; Jónsdóttir, Ingileif; Norddahl, Gudmundur L.; Þorsteinsdóttir, Unnur; Sulem, Patrick; Stefánsson, Kári (2022-06-01)
    The characteristic lobulated nuclear morphology of granulocytes is partially determined by composition of nuclear envelope proteins. Abnormal nuclear morphology is primarily observed as an increased number of hypolobulated immature neutrophils, called ...
  • Icon
    popSTR2 enables clinical and population-scale genotyping of microsatellites 
    Kristmundsdottir, Snædis; Eggertsson, Hannes P; Arnadottir, Gudny A; Halldórsson, Bjarni (Oxford University Press (OUP), 2019-12-05)
    Summary: popSTR2 is an update and augmentation of our previous work ‘popSTR: a population-based microsatellite genotyper’. To make genotyping sensitive to inter-sample differences, we supply a kernel to estimate sample-specific slippage rates. For ...
  • Icon
    A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome 
    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 (2023)
    Marfan syndrome (MFS) is an autosomal dominant condition characterized by aortic aneurysm, skeletal abnormalities, and lens dislocation, and is caused by variants in the FBN1 gene. To explore causes of MFS and the prevalence of the disease in Iceland ...
  • Icon
    Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis 
    Oskarsson, Gudjon R.; Oddsson, Asmundur; Magnusson, Magnus K.; Kristjansson, Ragnar P.; Halldorsson, Gisli H.; Ferkingstad, Egil; Zink, Florian; Helgadottir, Anna; Ivarsdottir, Erna V.; Arnadottir, Gudny A.; Jensson, Brynjar O.; Katrinardottir, Hildigunnur; Sveinbjornsson, Gardar; Kristinsdottir, Anna M.; Lee, Amy L.; Saemundsdottir, Jona; Stefansdottir, Lilja; Sigurdsson, Jon K.; Davidsson, Olafur B.; Benonisdottir, Stefania; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Jonsson, Stefan; Gudmundsson, Reynir L.; Asselbergs, Folkert W.; Tragante, Vinicius; Gunnarsson, Bjarni; Masson, Gisli; Thorleifsson, Gudmar; Rafnar, Thorunn; Holm, Hilma; Olafsson, Isleifur; Onundarson, Pall T.; Gudbjartsson, Daniel F.; Norddahl, Gudmundur L.; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari (2020-04-23)
    Hemoglobin is the essential oxygen-carrying molecule in humans and is regulated by cellular iron and oxygen sensing mechanisms. To search for novel variants associated with hemoglobin concentration, we performed genome-wide association studies of ...
  • Icon
    Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland 
    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 (2023-07-18)
    Background Long-QT syndrome (LQTS) is a cardiac repolarization abnormality that can lead to sudden cardiac death. The most common causes are rare coding variants in the genes KCNQ1, KCNH2, and SCN5A. The data on LQTS epidemiology are limited, and ...
  • Icon
    Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria 
    Kristjansson, Ragnar P.; Oskarsson, Gudjon R.; Skuladottir, Astros; Oddsson, Asmundur; Rognvaldsson, Solvi; Sveinbjornsson, Gardar; Lund, Sigrun H.; Jensson, Brynjar O.; Styrmisdottir, Edda L.; Halldorsson, Gisli H.; Ferkingstad, Egil; Eldjarn, Grimur Hjorleifsson; Beyter, Doruk; Kristmundsdottir, Snædis; Juliusson, Kristinn; Fridriksdottir, Run; Arnadottir, Gudny A.; Katrinardottir, Hildigunnur; Snorradottir, Margret H.; Tragante, Vinicius; Stefansdottir, Lilja; Ivarsdottir, Erna V.; Bjornsdottir, Gyda; Halldorsson, Bjarni V.; Thorleifsson, Gudmar; Lúðvíksson, Björn Rúnar; Önundarson, Páll Torfi; Sævarsdóttir, Sædís; Melsted, Pall; Norddahl, Gudmundur L.; Björnsdóttir, Unnur Steina; Olafsdottir, Thorunn; Gudbjartsson, Daniel F.; Thorsteinsdottir, Unnur; Jonsdottir, Ingileif; Sulem, Patrick; Stefansson, Kari (2023-07-10)
    Urticaria is a skin disorder characterized by outbreaks of raised pruritic wheals. In order to identify sequence variants associated with urticaria, we performed a meta-analysis of genome-wide association studies for urticaria with a total of 40,694 ...
  • Icon
    Sequence variants associating with urinary biomarkers 
    Benonisdottir, Stefania; Kristjansson, Ragnar P; Oddsson, Asmundur; Steinthorsdottir, Valgerdur; Mikaelsdottir, Evgenia; Kehr, Birte; Jensson, Brynjar O; Arnadottir, Gudny A; Sulem, Gerald; Sveinbjornsson, Gardar; Kristmundsdóttir, Snædís; Ívarsdóttir, Erna V.; Tragante, Vinicius; Gunnarsson, Bjarni; Runolfsdottir, Hrafnhildur Linnet; Arthur, Joseph G; Deaton, Aimee M; Eyjolfsson, Gudmundur I; Davidsson, Olafur B; Asselbergs, Folkert W; Hreidarsson, Astradur B; Rafnar, Thorunn; Thorleifsson, Gudmar; Edvardsson, Vidar; Sigurdsson, Gunnar; Helgadottir, Anna; Halldórsson, Bjarni; Masson, Gisli; Holm, Hilma; Önundarson, Páll Torfi; Indridason, Olafur S; Benediktsson, Rafn; Palsson, Runolfur; Gudbjartsson, Daniel F; Olafsson, Isleifur; Thorsteinsdottir, Unnur; sulem, patrick; Stefansson, Kari (Oxford University Press (OUP), 2018-11-24)
    Urine dipstick tests are widely used in routine medical care to diagnose kidney and urinary tract and metabolic diseases. Several environmental factors are known to affect the test results, whereas the effects of genetic diversity are largely unknown. ...
  • Icon
    Sequence variants in malignant hyperthermia genes in Iceland : classification and actionable findings in a population database 
    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 (2021-08-31)
    Malignant hyperthermia (MH) susceptibility is a rare life-threatening disorder that occurs upon exposure to a triggering agent. MH is commonly due to protein-altering variants in RYR1 and CACNA1S. The American College of Medical Genetics and Genomics ...
  • Icon
    Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination 
    Steinþórsdóttir, Valgerður; Halldórsson, Bjarni Vilhjálmur; Jónsson, Hákon; Palsson, Gunnar; Oddsson, Ásmundur; Westergaard, David; Arnadottir, Gudny A.; Stefánsdóttir, Lilja; Banasik, Karina; Esplin, M. Sean; Hansen, Thomas Folkmann; Brunak, Søren; Nyegaard, Mette; Ostrowski, Sisse Rye; Pedersen, Ole Birger Vesterager; Erikstrup, Christian; Thorleifsson, Gudmar; Nadauld, Lincoln D.; Haraldsson, Ásgeir; Steingrímsdóttir, Þóra; Tryggvadóttir, Laufey; Jónsdóttir, Ingileif; Gudbjartsson, Daniel F.; Hoffmann, Eva R.; Sulem, Patrick; Hólm, Hilma; Nielsen, Henriette Svarre; Stefánsson, Kári (2024-01-29)
    Two-thirds of all human conceptions are lost, in most cases before clinical detection. The lack of detailed understanding of the causes of pregnancy losses constrains focused counseling for future pregnancies. We have previously shown that a missense ...