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Fletta eftir höfundi "Fridriksdottir, Run"

Fletta eftir höfundi "Fridriksdottir, Run"

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    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, ...
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    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 ...
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    Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene 
    Árnadóttir, Guðný Anna; Oddsson, Asmundur; Jensson, Brynjar O.; Gisladottir, Svanborg; Simon, Mariella T.; Arnthorsson, Asgeir O.; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Ivarsdottir, Erna V.; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Barrick, Rebekah; Saemundsdottir, Jona; le Roux, Louise; Oskarsson, Gudjon R.; Ásmundsson, Jurate; Steffensen, Þóra Steinunn; Gudmundsson, Kjartan R.; Ludvigsson, Petur; Jonsson, Jon J.; Masson, Gisli; Jonsdottir, Ingileif; Holm, Hilma; Jonasson, Jon G.; Magnusson, Olafur Th; Thorarensen, Olafur; Abdenur, Jose; Norddahl, Gudmundur L.; Gudbjartsson, Daniel F.; Bjornsson, Hans T.; Þorsteinsdóttir, Unnur; Sulem, Patrick; Stefánsson, Kári (2022-02-04)
    Predicting the pathogenicity of biallelic missense variants can be challenging. Here, we use a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially ...
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    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 ...
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    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 ...
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    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 ...