Hafdis T Helgadottir

发表

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

Kari Stefansson, Torben Hansen, Niels Grarup, 2014, Nature Genetics.

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

Kari Stefansson, Evangelos Evangelou, Fernando Rivadeneira, 2014, Nature Genetics.

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

Paolo Vineis, Giuseppe Matullo, Kari Stefansson, 2009, Nature Genetics.

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

H. Stefánsson, A. Gylfason, D. Gudbjartsson, 2011, Nature Genetics.

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

Dan M Roden, Kari Stefansson, Gudmar Thorleifsson, 2011, Nature Genetics.

Large-scale whole-genome sequencing of the Icelandic population

Bjarni V. Halldórsson, A. Gylfason, B. Halldórsson, 2015, Nature Genetics.

A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences

S. Steinberg, D. Gudbjartsson, T. Thorgeirsson, 2016, Molecular Psychiatry.

Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease.

H. Stefánsson, S. Steinberg, K. Stefánsson, 2015, Human molecular genetics.

Accumulation of progerin affects the symmetry of cell division and is associated with impaired Wnt signaling and the mislocalization of nuclear envelope proteins.

H. Helgadottir, P. Katajisto, Agustin Sola-Carvajal, 2019, The Journal of investigative dermatology.

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

Malin Larsson, Fran Supek, Peter Stenvinkel, 2019, Genome Biology.

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

Bjarni V. Halldórsson, A. Gylfason, B. Halldórsson, 2016, Nature Genetics.

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

Kari Stefansson, Brian T Helfand, Gudmar Thorleifsson, 2012, Nature Genetics.

Assessment of Osteoarthritis Candidate Genes in a Meta-Analysis of Nine Genome-Wide Association Studies

A. Hofman, A. Uitterlinden, T. Spector, 2014, Arthritis & rheumatology.

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

Kari Stefansson, Wei Li, Jon Hrafnkelsson, 2009, Nature Genetics.

Discovery of common variants associated with low TSH levels and thyroid cancer risk

Kari Stefansson, Gudmar Thorleifsson, Jon Hrafnkelsson, 2012, Nature Genetics.

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

D. Postma, I. Hall, D. Gudbjartsson, 2010, European Journal of Human Genetics.

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

D. Postma, I. Hall, H. Stefánsson, 2009, Nature Genetics.

Mutations in BRIP1 confer high risk of ovarian cancer

A. Gylfason, D. Gudbjartsson, A. Sigurdsson, 2011, Nature Genetics.

Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer

S. Mane, C. Larsson, H. Helgadottir, 2022, Biomedicines.

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

Daniel F. Gudbjartsson, Michael L. Frigge, Kari Stefansson, 2013, Nature.

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

Bjarni V. Halldórsson, A. Hofman, A. Uitterlinden, 2010, Annals of the rheumatic diseases.

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

H. Helgadottir, D. Nilsson, A. Lindstrand, 2023, Frontiers in Neurology.

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.

L. Levin, H. Helgadottir, A. Nordgren, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

H. Helgadottir, A. Lindblom, Kristina Lagerstedt-Robinson, 2021, Scientific Reports.

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

Paolo Vineis, Abbas Ghaderi, Simonetta Guarrera, 2011, Human molecular genetics.

Somatic mutagenesis in satellite cells associates with human skeletal muscle aging

A. Pagnani, P. Lundin, H. Helgadottir, 2018, Nature Communications.