Works matching AU Stefansson, Kari
Results: 137
Personalized genomic information: preparing for the future of genetic medicine.
- Published in:
- 2010
- By:
- Publication type:
- review
A Statistical Approach to Identify Ancient Template DNA.
- Published in:
- Journal of Molecular Evolution, 2007, v. 65, n. 1, p. 92, doi. 10.1007/s00239-006-0259-8
- By:
- Publication type:
- Article
Prion susceptibility and protective alleles exhibit marked geographic differences (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #628 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/628.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 104, doi. 10.1002/humu.9157
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- Publication type:
- Article
Prion susceptibility and protective alleles exhibit marked geographic differencesCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #628 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/628.pdf.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 104, doi. 10.1002/humu.9157
- By:
- Publication type:
- Article
Transformers significantly improve splice site prediction.
- Published in:
- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07298-9
- By:
- Publication type:
- Article
Publisher Correction: Transformers significantly improve splice site prediction.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Transformers significantly improve splice site prediction.
- Published in:
- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07298-9
- By:
- Publication type:
- Article
Transformers significantly improve splice site prediction.
- Published in:
- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07298-9
- By:
- Publication type:
- Article
Comparing migraine with and without aura to healthy controls using RNA sequencing.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Characterizing the evolution and phenotypic impact of ampliconic Y chromosome regions.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39644-6
- By:
- Publication type:
- Article
Effect of booster vaccination against Delta and Omicron SARS-CoV-2 variants in Iceland.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33076-4
- By:
- Publication type:
- Article
TCF4 (e2-2; ITF2): A Schizophrenia-Associated Gene With Pleiotropic Effects on Human Disease.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 1, p. 1, doi. 10.1002/ajmg.b.32109
- By:
- Publication type:
- Article
Causal Effect of Genetic Variants Associated With Body Mass Index on Multiple Sclerosis Susceptibility.
- Published in:
- American Journal of Epidemiology, 2017, v. 185, n. 3, p. 162, doi. 10.1093/aje/kww120
- By:
- Publication type:
- Article
The BARD1 Cys557Ser variant and breast cancer risk in Iceland.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Cancer as a Complex Phenotype: Pattern of Cancer Distribution within and beyond the Nuclear Family.
- Published in:
- PLoS Medicine, 2004, v. 1, n. 3, p. 229, doi. 10.1371/journal.pmed.0010065
- By:
- Publication type:
- Article
DanMAC5: a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals.
- Published in:
- BMC Genomic Data, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12863-023-01132-7
- By:
- Publication type:
- Article
The mother's risk of premature death after child loss across two centuries.
- Published in:
- eLife, 2019, p. 1, doi. 10.7554/eLife.43476
- By:
- Publication type:
- Article
Genetic Risk of Coronary Artery Disease, Features of Atherosclerosis, and Coronary Plaque Burden.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A novel MALDI–TOF based methodology for genotyping single nucleotide polymorphisms.
- Published in:
- Nucleic Acids Research, 2003, v. 31, n. 24, p. e155, doi. 10.1093/nar/gng156
- By:
- Publication type:
- Article
Comment on "Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics".
- Published in:
- Science Translational Medicine, 2021, v. 13, n. 622, p. 1, doi. 10.1126/scitranslmed.abe8497
- By:
- Publication type:
- Article
Predicting ADHD in alcohol dependence using polygenic risk scores for ADHD.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2024, v. 195, n. 4, p. 1, doi. 10.1002/ajmg.b.32967
- By:
- Publication type:
- Article
Multi‐polygenic scores in psychiatry: From disorder specific to transdiagnostic perspectives.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2024, v. 195, n. 1, p. 1, doi. 10.1002/ajmg.b.32951
- By:
- Publication type:
- Article
Familial Risk of Lung Carcinoma in the Icelandic Population.
- Published in:
- JAMA: Journal of the American Medical Association, 2004, v. 292, n. 24, p. 2977, doi. 10.1001/jama.292.24.2977
- By:
- Publication type:
- Article
Questions About Genetic Variation in 9p21 as a Predictor of Cardiovascular Risk.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Predicting the presence of coronary plaques featuring high-risk characteristics using polygenic risk scores and targeted proteomics in patients with suspected coronary artery disease.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01313-8
- By:
- Publication type:
- Article
Increased absorption of phytosterols is the simplest and most plausible explanation for coronary artery disease risk not accounted for by non-HDL cholesterol in high cholesterol absorbers.
- Published in:
- European Heart Journal, 2021, v. 42, n. 3, p. 283, doi. 10.1093/eurheartj/ehaa902
- By:
- Publication type:
- Article
The CRP and GDNF Genes Do Not Contribute to Apnea-Hypopnea Index or Risk of Obstructive Sleep Apnea.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2011, v. 184, n. 1, p. 143, doi. 10.1164/ajrccm.184.1.143a
- By:
- Publication type:
- Article
GORpipe: a query tool for working with sequence data based on a Genomic Ordered Relational (GOR) architecture.
- Published in:
- 2016
- By:
- Publication type:
- Product Review
GORpipe: a query tool for working with sequence data based on a Genomic Ordered Relational (GOR) architecture.
- Published in:
- Bioinformatics, 2015, v. 31, n. 20, p. 3081, doi. 10.1093/bioinformatics/btw199
- By:
- Publication type:
- Article
A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration).
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 9, p. 975, doi. 10.1093/hmg/ddh106
- By:
- Publication type:
- Article
A genome-wide scan reveals a maternal susceptibility locus for pre-eclampsia on chromosome 2p13.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 9, p. 1799, doi. 10.1093/hmg/8.9.1799
- By:
- Publication type:
- Article
A population-based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas.
- Published in:
- International Journal of Cancer, 2002, v. 100, n. 4, p. 476, doi. 10.1002/ijc.10513
- By:
- Publication type:
- Article
Four missense genetic variants in CUBN are associated with higher levels of eGFR in non-diabetes but not in diabetes mellitus or its subtypes: A genetic association study in Europeans.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1081741
- By:
- Publication type:
- Article
DG-041 inhibits the EP3 prostanoid receptor—A new target for inhibition of platelet function in atherothrombotic disease.
- Published in:
- Platelets, 2008, v. 19, n. 8, p. 605, doi. 10.1080/09537100802351073
- By:
- Publication type:
- Article
A susceptibility gene for late-onset idiopathic Parkinson's disease.
- Published in:
- Annals of Neurology, 2002, v. 52, n. 5, p. 549, doi. 10.1002/ana.10324
- By:
- Publication type:
- Article
Polygenic risk scores associate with blood pressure traits across the lifespan.
- Published in:
- European Journal of Preventive Cardiology, 2024, v. 31, n. 6, p. 644, doi. 10.1093/eurjpc/zwad365
- By:
- Publication type:
- Article
Reproductive fitness and genetic risk of psychiatric disorders in the general population.
- Published in:
- Nature Communications, 2017, v. 8, n. 6, p. 1, doi. 10.1038/ncomms15833
- By:
- Publication type:
- Article
Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis.
- Published in:
- Nature Communications, 2016, v. 7, n. 7, p. 12350, doi. 10.1038/ncomms12350
- By:
- Publication type:
- Article
Common and rare variants associated with kidney stones and biochemical traits.
- Published in:
- Nature Communications, 2015, v. 6, n. 8, p. 7975, doi. 10.1038/ncomms8975
- By:
- Publication type:
- Article
Support for involvement of the AHI1 locus in schizophrenia.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 9, p. 988, doi. 10.1038/sj.ejhg.5201848
- By:
- Publication type:
- Article
Segmental duplication density decrease with distance to human-mouse breaks of synteny.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 2, p. 216, doi. 10.1038/sj.ejhg.5201534
- By:
- Publication type:
- Article
Blocking the EP3 receptor for PGE2 with DG-041 decreases thrombosis without impairing haemostatic competence.
- Published in:
- Cardiovascular Research, 2014, v. 101, n. 3, p. 482, doi. 10.1093/cvr/cvt276
- By:
- Publication type:
- Article
Single-Tissue and Cross-Tissue Heritability of Gene Expression Via Identity-by-Descent in Related or Unrelated Individuals.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 2, p. 1, doi. 10.1371/journal.pgen.1001317
- By:
- Publication type:
- Article
Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones-Role of Age and Comorbid Diseases.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 7, p. 1, doi. 10.1371/journal.pgen.1001039
- By:
- Publication type:
- Article
The Impact of Divergence Time on the Nature of Population Structure: An Example from Iceland.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 6, p. 1, doi. 10.1371/journal.pgen.1000505
- By:
- Publication type:
- Article
Sequences From First Settlers Reveal Rapid Evolution in Icelandic mtDNA Pool.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 1, p. 1, doi. 10.1371/journal.pgen.1000343
- By:
- Publication type:
- Article
A Drastic Reduction in the Life Span of Cystatin C L68Q Carriers Due to Life-Style Changes during the Last Two Centuries.
- Published in:
- PLoS Genetics, 2008, v. 4, n. 6, p. 1, doi. 10.1371/journal.pgen.1000099
- By:
- Publication type:
- Article
The Icelandic Man Cometh.
- Published in:
- 2003
- By:
- Publication type:
- Interview
Longitudinal metabolite and protein trajectories prior to diabetes mellitus diagnosis in Danish blood donors: a nested case–control study.
- Published in:
- Diabetologia, 2024, v. 67, n. 10, p. 2289, doi. 10.1007/s00125-024-06231-3
- By:
- Publication type:
- Article
Fine-scale recombination rate differences between sexes, populations and individuals.
- Published in:
- Nature, 2010, v. 467, n. 7319, p. 1099, doi. 10.1038/nature09525
- By:
- Publication type:
- Article