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The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.
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- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-15383-w
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- Article
Genetic history from the Middle Neolithic to present on the Mediterranean island of Sardinia.
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- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-14523-6
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- Article
Detection of phylogenetically informative polymorphisms in the entire euchromatic portion of human Y chromosome from a Sardinian sample.
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- BMC Research Notes, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13104-015-1130-z
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- Article
Parent-of-origin effects on quantitative phenotypes in a large Hutterite pedigree.
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- Communications Biology, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0267-4
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- Article
PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity.
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- Multiple Sclerosis Journal, 2021, v. 27, n. 9, p. 1332, doi. 10.1177/1352458520963937
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- Article
Childhood body size directly increases type 1 diabetes risk based on a lifecourse Mendelian randomization approach.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-29932-y
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- Article
Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 975, doi. 10.1038/ejhg.2014.216
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- Article
fastMitoCalc: an ultra-fast program to estimate mitochondrial DNA copy number from whole-genome sequences.
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- Bioinformatics, 2017, v. 33, n. 9, p. 1399, doi. 10.1093/bioinformatics/btw835
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- Article
Correction: Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools.
- Published in:
- 2015
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- Correction Notice
Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 7, p. 1, doi. 10.1371/journal.pgen.1005306
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- Article
Population Genomic Analysis of Ancient and Modern Genomes Yields New Insights into the Genetic Ancestry of the Tyrolean Iceman and the Genetic Structure of Europe.
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- PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004353
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- Article
A Likelihood-Based Framework for Variant Calling and De Novo Mutation Detection in Families.
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- PLoS Genetics, 2012, v. 8, n. 10, p. 1, doi. 10.1371/journal.pgen.1002944
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- Article
The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits.
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- PLoS Genetics, 2012, v. 8, n. 8, p. 1, doi. 10.1371/journal.pgen.1002793
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- Article
A fast linkage method for population GWAS cohorts with related individuals.
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- Genetic Epidemiology, 2023, v. 47, n. 3, p. 231, doi. 10.1002/gepi.22516
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- Article
Sequencing and imputation in GWAS: Cost‐effective strategies to increase power and genomic coverage across diverse populations.
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- Genetic Epidemiology, 2020, v. 44, n. 6, p. 537, doi. 10.1002/gepi.22326
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- Article
Meta‐MultiSKAT: Multiple phenotype meta‐analysis for region‐based association test.
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- Genetic Epidemiology, 2019, v. 43, n. 7, p. 800, doi. 10.1002/gepi.22248
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- Article
Relative impact of indels versus SNPs on complex disease.
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- Genetic Epidemiology, 2019, v. 43, n. 1, p. 112, doi. 10.1002/gepi.22175
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- Article
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-20086-3
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- Article
A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.
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- British Journal of Haematology, 2020, v. 191, n. 5, p. e124, doi. 10.1111/bjh.17090
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- Article
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
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- Human Molecular Genetics, 2013, v. 22, n. 17, p. 3597
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- Article
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.
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- Nature Genetics, 2010, v. 42, n. 6, p. 495, doi. 10.1038/ng.584
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- Article
XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments.
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- BMC Genomics, 2017, v. 18, p. 1, doi. 10.1186/s12864-017-4137-0
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- Article
A Genome-Wide Association Scan on the Levels of Markers of Inflammation in Sardinians Reveals Associations That Underpin Its Complex Regulation.
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- PLoS Genetics, 2012, v. 8, n. 1, p. 1, doi. 10.1371/journal.pgen.1002480
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- Article
Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability.
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- PLoS Genetics, 2011, v. 7, n. 7, p. 1, doi. 10.1371/journal.pgen.1002198
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- Article
Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.
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- Nature Genetics, 2015, v. 47, n. 11, p. 1264, doi. 10.1038/ng.3307
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- Article
Height-reducing variants and selection for short stature in Sardinia.
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- Nature Genetics, 2015, v. 47, n. 11, p. 1352, doi. 10.1038/ng.3403
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- Article
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.
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- Nature Genetics, 2015, v. 47, n. 11, p. 1272, doi. 10.1038/ng.3368
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- Article
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.
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- Nature Genetics, 2012, v. 44, n. 9, p. 991, doi. 10.1038/ng.2385
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- Article
Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past.
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- Molecular Biology & Evolution, 2017, v. 34, n. 5, p. 1230, doi. 10.1093/molbev/msx082
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- Article
Analysis of overlapping genetic association in type 1 and type 2 diabetes.
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- Diabetologia, 2021, v. 64, n. 6, p. 1342, doi. 10.1007/s00125-021-05428-0
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- Article
GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology.
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- Human Molecular Genetics, 2023, v. 32, n. 5, p. 790, doi. 10.1093/hmg/ddac238
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- Article