List of works - Stefania Benonisdottir

A Missense Variant in PLEC Increases Risk of Atrial Fibrillation

scientific article published in October 2017

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

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

Deconstructing the sources of genotype-phenotype associations in humans

scientific article published on 01 September 2019

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

scientific article published on 20 January 2020

Epigenetic and genetic components of height regulation

scientific article

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

scientific article published on 03 May 2019

Genetic insights into biological mechanisms governing human ovarian ageing

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

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

scientific article published on 24 May 2019

Sequence variant at 4q25 near PITX2 associates with appendicitis

scientific article

Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation

scientific article published on 22 February 2017

Sequence variants associating with urinary biomarkers

scientific article published on 01 April 2019

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

The nature of nurture: Effects of parental genotypes

scientific article

List of works by Stefania Benonisdottir

A Missense Variant in PLEC Increases Risk of Atrial Fibrillation

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

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

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

A rare missense variant in associates with lower cholesterol levels

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

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

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

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

Deconstructing the sources of genotype-phenotype associations in humans

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

Epigenetic and genetic components of height regulation

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

Genetic insights into biological mechanisms governing human ovarian ageing

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

Identification of Lynch syndrome risk variants in the Romanian population

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

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

Sequence variant at 4q25 near PITX2 associates with appendicitis

Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation

Sequence variants associating with urinary biomarkers

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

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

The nature of nurture: Effects of parental genotypes