Daniel F Gudbjartsson

发表

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

Kari Stefansson, Kang Zhang, Gudmar Thorleifsson, 2013, Nature Genetics.

Two newly identified genetic determinants of pigmentation in Europeans

Snæbjörn Pálsson, Kari Stefansson, Gudmar Thorleifsson, 2008, Nature Genetics.

ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

Kari Stefansson, Johan Hansson, Rafael Botella-Estrada, 2008, Nature Genetics.

Inheritance of human longevity in Iceland

Kári Stefánsson, Jeffrey R Gulcher, D. Gudbjartsson, 2000, European Journal of Human Genetics.

A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer

Paolo Vineis, Simonetta Guarrera, Giuseppe Matullo, 2010, Nature Genetics.

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

Kari Stefansson, Brian T Helfand, Torben Hansen, 2011, Nature Genetics.

Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly.

Kari Stefansson, Florian Zink, Gisli Masson, 2017, Blood.

BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes.

Giovanni Parmigiani, Susan G Hilsenbeck, Judy E Garber, 2002, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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

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

Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma

Kari Stefansson, Gudmar Thorleifsson, Hreinn Stefansson, 2007, Science.

A genome-wide association study yields five novel thyroid cancer risk loci

Sandya Liyanarachchi, Kari Stefansson, Gudmar Thorleifsson, 2017, Nature Communications.

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

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

Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility

Kari Stefansson, Brian T Helfand, William J Catalona, 2009, Nature Genetics.

A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction

Vilmundur Gudnason, Kari Stefansson, Arshed A Quyyumi, 2006, Nature Genetics.

Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity

Ellen Kampman, Kari Stefansson, Torben Hansen, 2009, Nature Genetics.

Graphtyper enables population-scale genotyping using pangenome graphs

Kari Stefansson, Hannes P Eggertsson, Bjarni V Halldorsson, 2017, Nature Genetics.

Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility

Kari Stefansson, Nicholas J Wareham, Claudia Langenberg, 2017, Nature Genetics.

Sequence variants from whole genome sequencing a large group of Icelanders

Kari Stefansson, Bjarni V Halldorsson, Florian Zink, 2015, Scientific Data.

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

Thomas Meitinger, Pierre Fontanillas, Stefan Johansson, 2014, Nature Genetics.

Genetic determinants of hair, eye and skin pigmentation in Europeans

Snæbjörn Pálsson, Kari Stefansson, Gudmar Thorleifsson, 2007, Nature Genetics.

Rare mutations associating with serum creatinine and chronic kidney disease.

Kari Stefansson, Runolfur Palsson, Aslaug Jonasdottir, 2014, Human molecular genetics.

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

Christian Gieger, Yusuke Nakamura, Philippe Froguel, 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.

Spread of SARS-CoV-2 in the Icelandic Population

Kari Stefansson, Thorolfur Gudnason, Aslaug Jonasdottir, 2020, The New England journal of medicine.

Several common variants modulate heart rate, PR interval and QRS duration

Kari Stefansson, Gudmar Thorleifsson, Aslaug Jonasdottir, 2010, Nature Genetics.

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

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

Multiple genetic loci for bone mineral density and fractures.

Kari Stefansson, Claus Christiansen, Bjarni V Halldorsson, 2008, The New England journal of medicine.

Sequence Variants in the RNF212 Gene Associate with Genome-Wide Recombination Rate

Kari Stefansson, Gudmar Thorleifsson, Hreinn Stefansson, 2008, Science.

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.

A common variant on chromosome 9p21 affects the risk of myocardial infarction.

Kari Stefansson, Arshed A Quyyumi, Anna Helgadottir, 2007, Science.

Weighting sequence variants based on their annotation increases power of whole-genome association studies

Anders Albrechtsen, Kari Stefansson, Florian Zink, 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.

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

Christian Gieger, Inês Barroso, Peter Kraft, 2010, Nature Genetics.