Nome |
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Whole Genome Sequencing of Italian Isolate Populations to identify rare and characteristic variants and to generate a reference panel for imputation., file e2913fdb-8449-f688-e053-3705fe0a67e0
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545
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The UK10K project identifies rare variants in health and disease, file e2913fd9-a5b1-f688-e053-3705fe0a67e0
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212
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Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel, file e2913fd9-a5b2-f688-e053-3705fe0a67e0
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178
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Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection, file e2913fdc-34a6-f688-e053-3705fe0a67e0
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178
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Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour, file e2913fde-c62b-f688-e053-3705fe0a67e0
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171
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Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss, file e2913fdc-7405-f688-e053-3705fe0a67e0
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131
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Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment, file e2913fdc-e1a3-f688-e053-3705fe0a67e0
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125
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Pharmacogenetics driving personalized medicine: Analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations, file e2913fda-8fd9-f688-e053-3705fe0a67e0
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124
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity, file e2913fdc-4304-f688-e053-3705fe0a67e0
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122
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Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits, file e2913fdc-4160-f688-e053-3705fe0a67e0
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96
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Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin, file 2ef4a50f-e72d-4986-a622-cfb8ae1d2b86
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76
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Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits, file e2913fdc-4548-f688-e053-3705fe0a67e0
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62
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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function, file e2913fda-94d8-f688-e053-3705fe0a67e0
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52
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Pharmacogenetics driving personalized medicine: Analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations, file e2913fda-8dee-f688-e053-3705fe0a67e0
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46
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1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function, file e2913fdc-1557-f688-e053-3705fe0a67e0
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35
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Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color, file e2913fde-586e-f688-e053-3705fe0a67e0
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33
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A saturated map of common genetic variants associated with human height, file 78e07c8b-9c43-4d37-a843-bad58c75086f
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31
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Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci, file e2913fdf-0d5b-f688-e053-3705fe0a67e0
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28
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Pharmacogenetics driving personalized medicine: Analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations, file e2913fda-95c0-f688-e053-3705fe0a67e0
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27
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Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population, file bc8fc249-921f-4165-b88c-4da43d14f1f7
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26
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Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals, file 82269d83-9d6b-455e-8519-3652c28c90aa
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25
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Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk, file e2913fde-ef91-f688-e053-3705fe0a67e0
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23
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Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates, file e2913fde-b72d-f688-e053-3705fe0a67e0
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22
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Pharmacogenetics driving personalized medicine: Analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations, file e2913fda-91c0-f688-e053-3705fe0a67e0
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20
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Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways, file 8723dc08-9e75-4b40-9242-44b9a90c3eb8
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17
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Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function, file e2913fdd-aa95-f688-e053-3705fe0a67e0
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17
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Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals, file 3aeb2f35-a1d6-4f8f-afe1-9f26ef6d1e27
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13
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Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment, file e2913fdd-140c-f688-e053-3705fe0a67e0
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13
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Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment, file e2913fdd-140d-f688-e053-3705fe0a67e0
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13
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The role of knockout olfactory receptor genes in odor discrimination, file e2913fde-2265-f688-e053-3705fe0a67e0
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13
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Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population, file 17374c94-bc9e-441f-9ab1-9f7a1a048313
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8
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Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment, file e2913fdd-140b-f688-e053-3705fe0a67e0
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8
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Eating disinhibition and food liking are influenced by variants in CAV1 (caveolin 1) gene, file 62d62b06-618a-4b5e-bfef-6f26f0ccf372
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6
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Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk, file e2913fdb-785d-f688-e053-3705fe0a67e0
|
6
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A catalog of genetic loci associated with kidney function from analyses of a million individuals., file e2913fdd-1bc4-f688-e053-3705fe0a67e0
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5
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Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus, file 49752446-b9e4-4958-ba48-32885c446813
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4
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Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin, file ca6020c7-f693-4587-8fdc-fc2bc6c65afa
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4
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A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure, file e2913fdc-da56-f688-e053-3705fe0a67e0
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4
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Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci, file e2913fdd-a91c-f688-e053-3705fe0a67e0
|
4
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Eating disinhibition and food liking are influenced by variants in CAV1 (caveolin 1) gene, file e39b2247-2090-4075-9210-f6d3d8483aca
|
4
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Salt-inducible kinase 3, SIK3, is a new gene associated with hearing., file e2913fda-2926-f688-e053-3705fe0a67e0
|
3
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Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability, file e2913fdc-229b-f688-e053-3705fe0a67e0
|
3
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A reference panel of 64,976 haplotypes for genotype imputation, file e2913fda-e2f5-f688-e053-3705fe0a67e0
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2
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Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps, file e2913fda-feee-f688-e053-3705fe0a67e0
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2
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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits, file e2913fdc-7e74-f688-e053-3705fe0a67e0
|
2
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Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour, file e2913fde-e64f-f688-e053-3705fe0a67e0
|
2
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Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus, file dfcd08a1-0675-40a4-b62c-582fe5ff04c4
|
1
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Rare and low-frequency coding variants alter human adult height, file e2913fdb-06aa-f688-e053-3705fe0a67e0
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1
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COL6A5 variants in familial neuropathic chronic itch, file e2913fdb-07a1-f688-e053-3705fe0a67e0
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1
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MCM8 and MCM9 nucleotide variants in women with primary ovarian insufficiency, file e2913fdb-0a88-f688-e053-3705fe0a67e0
|
1
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity, file e2913fdc-4156-f688-e053-3705fe0a67e0
|
1
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A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure, file e2913fdc-4d30-f688-e053-3705fe0a67e0
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1
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A catalog of genetic loci associated with kidney function from analyses of a million individuals., file e2913fdd-0160-f688-e053-3705fe0a67e0
|
1
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Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss, file e2913fde-b3fd-f688-e053-3705fe0a67e0
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1
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Totale |
2.549 |