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List of works by Ragnar P Kristjansson

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

scientific article published in Nature Communications

A rare missense variant in associates with lower cholesterol levels

article published in 2018

A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease

scientific article published on 7 April 2017

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

scientific article published on 17 May 2018

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.

scientific article published on 14 November 2017

Coding variants in and increase risk of atrial fibrillation

scientific article published on 12 June 2018

Epigenetic and genetic components of height regulation

scientific article

Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility

scientific article published on 27 April 2016

Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

scientific article published in 2021

Sequence variant at 4q25 near PITX2 associates with appendicitis

scientific article

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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