List of works by Gudny A Arnadottir

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

scientific article published on 16 April 2019

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

scientific article published in Nature Communications

A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis

scientific article published on 14 January 2019

A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

scientific article published on 17 May 2018

Differences between germline genomes of monozygotic twins

scientific article published on 07 January 2021

Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

scientific article published in Nature Communications

Multiple transmissions of de novo mutations in families

article

Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

scientific article published on 23 April 2020

Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density

scientific article published on 20 March 2019

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

scientific article published in 2021

Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits

scientific article published in Nature Communications

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