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List of works by Gudmundur L Norddahl

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 rare missense variant in associates with lower cholesterol levels

article published in 2018

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

scientific article published on 17 May 2018

Corrigendum: Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis.

scientific article published in July 2017

Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

scientific article published on 20 January 2020

GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

scientific article published on 03 May 2019

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

scientific article published in Nature Communications

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

scientific article published on 23 April 2020

Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

scientific article published on 24 May 2019

Truncating mutations in RBM12 are associated with psychosis

scientific article

Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis

scientific article published on 20 March 2017

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