List of works - Hafdis Helgadottir

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

scientific article published on 25 September 2011

A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip

scientific article

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

scientific article

A sequence variant on 17q21 is associated with age at onset and severity of asthma

scientific article

A variant in MCF2L is associated with osteoarthritis

scientific article

Accumulation of Progerin Affects the Symmetry of Cell Division and Is Associated with Impaired Wnt Signaling and the Mislocalization of Nuclear Envelope Proteins

scientific article published on 23 May 2019

Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies

scientific article

Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations

scientific article published on 6 February 2009

European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene

scientific article

HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

scientific article published on February 2016

Heterozygote carriers for CNVs inPARK2are at increased risk of Parkinson's disease

scholarly article by Johanna Huttenlocher et al published 17 July 2015 in Human Molecular Genetics

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

scientific article

Identification of low-frequency variants associated with gout and serum uric acid levels

scientific article published on 9 October 2011

Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22

scientific article

Mutations in BRIP1 confer high risk of ovarian cancer

scientific article

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

scientific article

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

scientific article

Sequence variants at the TERT-CLPTM1L locus associate with many cancer types

scientific article (publication date: February 2009)

Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes

scientific article published on 19 July 2021

Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.

scientific article published on 13 April 2014

Somatic mutagenesis in satellite cells associates with human skeletal muscle aging

scientific article published on 23 February 2018

Somatic mutation that affects transcription factor binding upstream of CD55 in the temporal cortex of a late-onset Alzheimer disease patient

scientific article published on 01 August 2019

The CRP and GDNF genes do not contribute to apnea-hypopnea index or risk of obstructive sleep apnea

scientific article

Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type

scientific article published on 18 December 2019

List of works by Hafdis Helgadottir

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

A sequence variant on 17q21 is associated with age at onset and severity of asthma

A variant in MCF2L is associated with osteoarthritis

Accumulation of Progerin Affects the Symmetry of Cell Division and Is Associated with Impaired Wnt Signaling and the Mislocalization of Nuclear Envelope Proteins

Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies

Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations

European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene

HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

Heterozygote carriers for CNVs inPARK2are at increased risk of Parkinson's disease

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

Identification of low-frequency variants associated with gout and serum uric acid levels

Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22

Mutations in BRIP1 confer high risk of ovarian cancer

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

Sequence variants at the TERT-CLPTM1L locus associate with many cancer types

Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes

Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.

Somatic mutagenesis in satellite cells associates with human skeletal muscle aging

Somatic mutation that affects transcription factor binding upstream of CD55 in the temporal cortex of a late-onset Alzheimer disease patient

The CRP and GDNF genes do not contribute to apnea-hypopnea index or risk of obstructive sleep apnea

Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type