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Fletta eftir efnisorði "Mutation, Missense"

Fletta eftir efnisorði "Mutation, Missense"

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    A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo 
    Skuladottir, Astros Th; Bjornsdottir, Gyda; Nawaz, Muhammad Sulaman; Petersen, Hannes; Rognvaldsson, Solvi; Moore, Kristjan Helgi Swerford; Olafsson, Pall I.; Magnusson, Sigurður H.; Bjornsdottir, Anna; Sveinsson, Olafur A.; Sigurdardottir, Gudrun R.; Sævarsdóttir, Sædís; Ivarsdottir, Erna V.; Stefánsdóttir, Lilja; Gunnarsson, Bjarni; Muhlestein, Joseph B.; Knowlton, Kirk U.; Jones, David A.; Nadauld, Lincoln D.; Hartmann, Annette M.; Rujescu, Dan; Strupp, Michael; Walters, Guðmundur Bragi; Thorgeirsson, Thorgeir E.; Jónsdóttir, Ingileif; Holm, Hilma; Thorleifsson, Gudmar; Gudbjartsson, Daniel F.; Sulem, Patrick; Stefansson, Hreinn; Stefansson, Kari (2021-10-07)
    Vertigo is the leading symptom of vestibular disorders and a major risk factor for falls. In a genome-wide association study of vertigo (Ncases = 48,072, Ncontrols = 894,541), we uncovered an association with six common sequence variants in individuals ...
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    Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2 
    Reynisdóttir, Tinna; Anderson, Kimberley Jade; Boukas, Leandros; Björnsson, Hans Tómas (2022-06-21)
    Wiedemann-Steiner syndrome (WDSTS) is a neurodevelopmental disorder caused by de novo variants in KMT2A, which encodes a multi-domain histone methyltransferase. To gain insight into the currently unknown pathogenesis of WDSTS, we examined the spatial ...
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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 ...