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Genetic architecture of band neutrophil fraction in Iceland.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03462-1
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- Publication type:
- Article
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-28330-8
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- Publication type:
- Article
The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02224-9
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- Publication type:
- Article
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09719-4
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- Publication type:
- Article
A rare missense variant in NR1H4 associates with lower cholesterol levels.
- Published in:
- Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0015-9
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- Publication type:
- Article
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.
- Published in:
- Nature Communications, 2018, v. 9, p. 1, doi. 10.1038/s41467-018-06964-x
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- Publication type:
- Article
MAP1B mutations cause intellectual disability and extensive white matter deficit.
- Published in:
- Nature Communications, 2018, v. 9, p. 1, doi. 10.1038/s41467-018-05595-6
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- Publication type:
- Article
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.
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- 2017
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- Publication type:
- Case Study
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
- Published in:
- 2017
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- Publication type:
- Case Study
A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 12, p. 2364, doi. 10.1093/hmg/ddx123
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- Publication type:
- Article
A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma.
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- PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006659
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- Publication type:
- Article
Multi-nucleotide de novo Mutations in Humans.
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- PLoS Genetics, 2016, v. 12, n. 11, p. 1, doi. 10.1371/journal.pgen.1006315
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- Publication type:
- Article
Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.
- Published in:
- Nature Communications, 2016, v. 7, n. 2, p. 10572, doi. 10.1038/ncomms10572
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- Publication type:
- Article
Loss-of-function variants in ATM confer risk of gastric cancer.
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- Nature Genetics, 2015, v. 47, n. 8, p. 906, doi. 10.1038/ng.3342
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- 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
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- Publication type:
- Article
Rare mutations associating with serum creatinine and chronic kidney disease.
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- Human Molecular Genetics, 2014, v. 23, n. 25, p. 6935, doi. 10.1093/hmg/ddu399
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- 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
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- Publication type:
- Article
Rare mutations associating with serum creatinine and chronic kidney disease.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu399
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- 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
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- 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
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- Publication type:
- Article
Mutations in BRIP1 confer high risk of ovarian cancer.
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- Nature Genetics, 2011, v. 43, n. 11, p. 1104, doi. 10.1038/ng.955
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- Publication type:
- Article
Identification of low-frequency variants associated with gout and serum uric acid levels.
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- Nature Genetics, 2011, v. 43, n. 11, p. 1127, doi. 10.1038/ng.972
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- Publication type:
- Article
Sequence variants at CYP1A1–CYP1A2 and AHR associate with coffee consumption.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 2071, doi. 10.1093/hmg/ddr086
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- 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
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- Publication type:
- Article
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.
- Published in:
- Nature Genetics, 2010, v. 42, n. 10, p. 906, doi. 10.1038/ng.661
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- Publication type:
- Article
A sequence variant on 17q21 is associated with age at onset and severity of asthma.
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- European Journal of Human Genetics, 2010, v. 18, n. 8, p. 902, doi. 10.1038/ejhg.2010.38
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- Publication type:
- Article
Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm.
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- Nature Genetics, 2010, v. 42, n. 8, p. 692, doi. 10.1038/ng.622
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- Publication type:
- Article
Parental origin of sequence variants associated with complex diseases.
- Published in:
- Nature, 2009, v. 462, n. 7275, p. 868, doi. 10.1038/nature08625
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- Article
Genetics of gene expression and its effect on disease.
- Published in:
- Nature, 2008, v. 452, n. 7186, p. 423, doi. 10.1038/nature06758
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- Publication type:
- Article
Variants conferring risk of atrial fibrillation on chromosome 4q25.
- Published in:
- Nature, 2007, v. 448, n. 7151, p. 353, doi. 10.1038/nature06007
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- Publication type:
- Article
Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: Screening reveals low frequency in Icelandic breast cancer patients.
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- Human Mutation, 1998, v. 11, p. S195, doi. 10.1002/humu.1380110163
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- Publication type:
- Article
Chromosome 17q-Linkage Seems to be Infrequent in Icelandic Families at Risk of Breast Cancer.
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- Acta Oncologica, 1995, v. 34, n. 5, p. 657, doi. 10.3109/02841869509094044
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- Publication type:
- Article
Isoenzyme pattern and subcellular localization of hexokinases in human breast cancer and nonpathological breast tissue.
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- International Journal of Cancer, 1984, v. 34, n. 1, p. 63, doi. 10.1002/ijc.2910340111
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- Publication type:
- Article