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List of works by Brynjar O Jensson

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

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

scientific article published on 14 November 2017

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

scientific article published on 3 February 2016

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

scientific article published on 2 October 2017

Epigenetic and genetic components of height regulation

scientific article

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

scientific article published in Nature Communications

Identification of Lynch syndrome risk variants in the Romanian population

scientific article published on 16 October 2018

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

scientific article published on 23 April 2020

Sequence variant at 4q25 near PITX2 associates with appendicitis

scientific article

Sequence variants associating with urinary biomarkers

scientific article published on 01 April 2019

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

scientific article published in 2021

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