Author

Gudny Anna Arnadottir

deCODE Genetics (Iceland)ORCID 0000-0001-6571-423XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Organism:zebrafish· 1

Frequent Co-Authors

Kāri StefánssoniD· 2 shared Patrick SulemiD· 2 shared Aðalbjörg Jónasdóttir· 1 shared Agnar HelgasoniD· 1 shared Ange‐Line BrueliD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Annie GodwiniD· 1 shared Antonio NovelliiD· 1 shared

Activity by Year

2018-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Kāri StefánssonORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 11, 2023

Monoallelic de novo variants in DDX17 cause a novel neurodevelopmental disorder

Eleanor G. Seaby, Annie Godwin, Valentine Clerc…·Sarah Ennis

The paper identifies de novo monoallelic DDX17 variants in 11 patients with neurodevelopmental disorders and shows DDX17 dysfunction causes neuronal migration and axon outgrowth defects in multiple models.

DOI 10.1101/2023.10.11.23295963

𝕏 PostBluesky

GenomicsNature GeneticsPeer-reviewedOct 31, 2018

Recurrence of de novo mutations in families

Hákon Jónsson, Patrick Sulem, Gudny Anna Arnadottir…·Kāri Stefánsson

The paper identifies recurrent de novo mutations in sibling pairs and estimates their recurrence probabilities based on various factors.

115 citationstop 2%

humanstatistical model

𝕏 PostBluesky