Found: 87
Select item for more details and to access through your institution.
Loss-of-function variants in ITSN1 confer high risk of Parkinson's disease.
- Published in:
- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00752-9
- By:
- Publication type:
- Article
Obesity Variants in the GIPR Gene Are not Associated With Risk of Fracture or Bone Mineral Density.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 8, p. e1608, doi. 10.1210/clinem/dgad734
- 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
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
A comparison of methods for detecting DNA methylation from long-read sequencing of human genomes.
- Published in:
- Genome Biology, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s13059-024-03207-9
- By:
- Publication type:
- Article
Histopathology and levels of proteins in plasma associate with survival after colorectal cancer diagnosis.
- Published in:
- British Journal of Cancer, 2023, v. 129, n. 7, p. 1142, doi. 10.1038/s41416-023-02374-z
- By:
- Publication type:
- Article
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.
- Published in:
- Journal of the American Heart Association, 2023, v. 12, n. 14, p. 1, doi. 10.1161/JAHA.123.029845
- By:
- Publication type:
- Article
Cartilage Acidic Protein 1 in Plasma Associates With Prevalent Osteoarthritis and Predicts Future Risk as Well as Progression to Joint Replacements: Results From the UK Biobank Resource.
- Published in:
- Arthritis & Rheumatology, 2023, v. 75, n. 4, p. 544, doi. 10.1002/art.42376
- 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
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 the probability of death using proteomics.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02289-6
- By:
- Publication type:
- Article
GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-13341-9
- By:
- Publication type:
- Article
Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-09304-9
- By:
- Publication type:
- Article
Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-08107-8
- By:
- Publication type:
- Article
A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.
- Published in:
- Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0053-3
- By:
- Publication type:
- Article
Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06920-9
- By:
- Publication type:
- Article
Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04989-w
- By:
- Publication type:
- Article
PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04766-9
- By:
- Publication type:
- Article
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04611-z
- By:
- Publication type:
- Article
Age and Influenza-Specific Pre-Vaccination Antibodies Strongly Affect Influenza Vaccine Responses in the Icelandic Population whereas Disease and Medication Have Small Effects.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2017.01872
- By:
- Publication type:
- Article
Polygenic risk scores for schizophrenia and bipolar disorder associate with addiction.
- Published in:
- 2018
- By:
- Publication type:
- journal article
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
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
A genome-wide association study yields five novel thyroid cancer risk loci.
- Published in:
- Nature Communications, 2017, v. 8, n. 2, p. 14517, doi. 10.1038/ncomms14517
- By:
- Publication type:
- Article
A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation.
- Published in:
- European Heart Journal, 2017, v. 38, n. 1, p. 1, doi. 10.1093/eurheartj/ehw379
- By:
- Publication type:
- Article
Multi-nucleotide de novo Mutations in Humans.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 11, p. 1, doi. 10.1371/journal.pgen.1006315
- By:
- Publication type:
- Article
Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.
- Published in:
- Nature Communications, 2016, v. 7, n. 7, p. 12050, doi. 10.1038/ncomms12050
- 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
Loss-of-function variants in ATM confer risk of gastric cancer.
- Published in:
- Nature Genetics, 2015, v. 47, n. 8, p. 906, doi. 10.1038/ng.3342
- By:
- Publication type:
- Article
Large-scale whole-genome sequencing of the Icelandic population.
- Published in:
- Nature Genetics, 2015, v. 47, n. 5, p. 435, doi. 10.1038/ng.3247
- By:
- Publication type:
- Article
Identification of a large set of rare complete human knockouts.
- Published in:
- Nature Genetics, 2015, v. 47, n. 5, p. 448, doi. 10.1038/ng.3243
- By:
- Publication type:
- Article
Rare mutations associating with serum creatinine and chronic kidney disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 25, p. 6935, doi. 10.1093/hmg/ddu399
- By:
- Publication type:
- Article
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
- Published in:
- Nature Genetics, 2014, v. 46, n. 8, p. 826, doi. 10.1038/ng.3014
- By:
- Publication type:
- Article
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 3045, doi. 10.1093/hmg/ddt671
- By:
- Publication type:
- Article
Common and low-frequency variants associated with genome-wide recombination rate.
- Published in:
- Nature Genetics, 2014, v. 46, n. 1, p. 11, doi. 10.1038/ng.2833
- By:
- Publication type:
- Article
A common variant at 8q24.21 is associated with renal cell cancer.
- Published in:
- Nature Communications, 2013, v. 4, n. 11, p. 2776, doi. 10.1038/ncomms3776
- By:
- Publication type:
- Article
A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration.
- Published in:
- Nature Genetics, 2013, v. 45, n. 11, p. 1371, doi. 10.1038/ng.2740
- By:
- Publication type:
- Article
Genetic Architecture of Vitamin B<sub>12</sub> and Folate Levels Uncovered Applying Deeply Sequenced Large Datasets.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 6, p. 1, doi. 10.1371/journal.pgen.1003530
- By:
- Publication type:
- Article
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.
- Published in:
- Nature, 2013, v. 497, n. 7450, p. 517, doi. 10.1038/nature12124
- By:
- Publication type:
- Article
Rare mutations associating with serum creatinine and chronic kidney disease.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu399
- By:
- Publication type:
- Article
A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer.
- Published in:
- Nature Genetics, 2012, v. 44, n. 12, p. 1326, doi. 10.1038/ng.2437
- By:
- Publication type:
- Article
Rate of de novo mutations and the importance of father's age to disease risk.
- Published in:
- Nature, 2012, v. 488, n. 7412, p. 471, doi. 10.1038/nature11396
- By:
- Publication type:
- Article
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
- Published in:
- Nature Genetics, 2012, v. 44, n. 3, p. 260, doi. 10.1038/ng.1051
- By:
- Publication type:
- Article
Discovery of common variants associated with low TSH levels and thyroid cancer risk.
- Published in:
- Nature Genetics, 2012, v. 44, n. 3, p. 319, doi. 10.1038/ng.1046
- By:
- Publication type:
- Article
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
- Published in:
- Nature Genetics, 2011, v. 43, n. 11, p. 1098, doi. 10.1038/ng.926
- By:
- Publication type:
- Article
Mutations in BRIP1 confer high risk of ovarian cancer.
- Published in:
- Nature Genetics, 2011, v. 43, n. 11, p. 1104, doi. 10.1038/ng.955
- By:
- Publication type:
- Article
Identification of low-frequency variants associated with gout and serum uric acid levels.
- Published in:
- Nature Genetics, 2011, v. 43, n. 11, p. 1127, doi. 10.1038/ng.972
- By:
- Publication type:
- Article
Sequence variants at CYP1A1–CYP1A2 and AHR associate with coffee consumption.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 10, p. 2071, doi. 10.1093/hmg/ddr086
- By:
- Publication type:
- Article