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Author: Aarno Palotie

Rankings

  • All-time downloads: 114,339 (rank: 814 )
  • Categories:
    • cardiovascular medicine: 419 (rank: 1,101 (tie) )
    • epidemiology: 282 (rank: 20,872 (tie) )
    • genetic and genomic medicine: 6,972 (rank: 97 )
    • genetics: 65,286 (rank: 51 )
    • genomics: 39,526 (rank: 196 )
    • infectious diseases: 1,012 (rank: 20,919 (tie) )
    • oncology: 842 (rank: 655 (tie) )

Downloads per author, site-wide

Preprints

Analysis of protein-coding genetic variation in 60,706 humans

genomics more details view paper
  • Downloaded 22,018 times
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    • Site-wide: 307
    • In genomics: 11
  • Year to date:
    • Site-wide: 24,954
  • Since beginning of last month:
    • Site-wide: 21,889

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

genetics more details view paper
  • Downloaded 10,216 times
  • Download rankings, all-time:
    • Site-wide: 784
    • In genetics: 23
  • Year to date:
    • Site-wide: 6,276
  • Since beginning of last month:
    • Site-wide: 12,982

Common risk variants identified in autism spectrum disorder

genetics more details view paper
  • Downloaded 7,982 times
  • Download rankings, all-time:
    • Site-wide: 1,076
    • In genetics: 32
  • Year to date:
    • Site-wide: 2,375
  • Since beginning of last month:
    • Site-wide: 2,530

A reference panel of 64,976 haplotypes for genotype imputation

genetics more details view paper
  • Downloaded 4,588 times
  • Download rankings, all-time:
    • Site-wide: 2,260
    • In genetics: 82
  • Year to date:
    • Site-wide: 81,660
  • Since beginning of last month:
    • Site-wide: 104,328

Phenome-wide association studies (PheWAS) across large "real-world data" population cohorts support drug target validation

genetics more details view paper
  • Downloaded 3,504 times
  • Download rankings, all-time:
    • Site-wide: 3,341
    • In genetics: 129
  • Year to date:
    • Site-wide: 46,938
  • Since beginning of last month:
    • Site-wide: 43,162

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

genetic and genomic medicine more details view paper
  • Downloaded 3,367 times
  • Download rankings, all-time:
    • Site-wide: 3,541
    • In genetic and genomic medicine: 11
  • Year to date:
    • Site-wide: 1,028
  • Since beginning of last month:
    • Site-wide: 1,180

Ninety-nine independent genetic loci influencing general cognitive function include genes associated with brain health and structure (N = 280,360)

genetics more details view paper
  • Downloaded 3,261 times
  • Download rankings, all-time:
    • Site-wide: 3,704
    • In genetics: 152
  • Year to date:
    • Site-wide: 42,622
  • Since beginning of last month:
    • Site-wide: 86,754

Polygenic and clinical risk scores and their impact on age at onset of cardiometabolic diseases and common cancers

genomics more details view paper
  • Downloaded 2,790 times
  • Download rankings, all-time:
    • Site-wide: 4,601
    • In genomics: 511
  • Year to date:
    • Site-wide: 22,043
  • Since beginning of last month:
    • Site-wide: 17,784

Genome-wide association study identifies 48 common genetic variants associated with handedness

genetics more details view paper
  • Downloaded 2,567 times
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    • Site-wide: 5,192
    • In genetics: 237
  • Year to date:
    • Site-wide: 23,578
  • Since beginning of last month:
    • Site-wide: 29,457

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

genetics more details view paper
  • Downloaded 2,509 times
  • Download rankings, all-time:
    • Site-wide: 5,380
    • In genetics: 246
  • Year to date:
    • Site-wide: 92,316
  • Since beginning of last month:
    • Site-wide: 97,013

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

genetics more details view paper
  • Downloaded 2,489 times
  • Download rankings, all-time:
    • Site-wide: 5,456
    • In genetics: 250
  • Year to date:
    • Site-wide: 16,730
  • Since beginning of last month:
    • Site-wide: 19,994

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

genetics more details view paper
  • Downloaded 2,301 times
  • Download rankings, all-time:
    • Site-wide: 6,131
    • In genetics: 289
  • Year to date:
    • Site-wide: 107,828
  • Since beginning of last month:
    • Site-wide: 96,845

A global atlas of genetic associations of 220 deep phenotypes

genetic and genomic medicine more details view paper
  • Downloaded 2,089 times
  • Download rankings, all-time:
    • Site-wide: 7,050
    • In genetic and genomic medicine: 24
  • Year to date:
    • Site-wide: 1,045
  • Since beginning of last month:
    • Site-wide: 420

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

genetics more details view paper
  • Downloaded 2,021 times
  • Download rankings, all-time:
    • Site-wide: 7,390
    • In genetics: 348
  • Year to date:
    • Site-wide: 48,101
  • Since beginning of last month:
    • Site-wide: 62,304

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

genomics more details view paper
  • Downloaded 1,967 times
  • Download rankings, all-time:
    • Site-wide: 7,716
    • In genomics: 839
  • Year to date:
    • Site-wide: 46,003
  • Since beginning of last month:
    • Site-wide: 68,310

De novo Variants In Neurodevelopmental Disorders With Epilepsy

genetics more details view paper
  • Downloaded 1,960 times
  • Download rankings, all-time:
    • Site-wide: 7,745
    • In genetics: 360
  • Year to date:
    • Site-wide: 38,601
  • Since beginning of last month:
    • Site-wide: 48,081

Trans-ancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

genetics more details view paper
  • Downloaded 1,884 times
  • Download rankings, all-time:
    • Site-wide: 8,221
    • In genetics: 379
  • Year to date:
    • Site-wide: 68,088
  • Since beginning of last month:
    • Site-wide: 63,189

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

genetics more details view paper
  • Downloaded 1,791 times
  • Download rankings, all-time:
    • Site-wide: 8,861
    • In genetics: 416
  • Year to date:
    • Site-wide: 49,167
  • Since beginning of last month:
    • Site-wide: 61,106

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

genomics more details view paper
  • Downloaded 1,703 times
  • Download rankings, all-time:
    • Site-wide: 9,586
    • In genomics: 1,045
  • Year to date:
    • Site-wide: 52,950
  • Since beginning of last month:
    • Site-wide: 45,301

Gene family information facilitates variant interpretation and identification of disease-associated genes

genetics more details view paper
  • Downloaded 1,650 times
  • Download rankings, all-time:
    • Site-wide: 10,018
    • In genetics: 480
  • Year to date:
    • Site-wide: 68,905
  • Since beginning of last month:
    • Site-wide: 62,697

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

genetics more details view paper
  • Downloaded 1,532 times
  • Download rankings, all-time:
    • Site-wide: 11,167
    • In genetics: 533
  • Year to date:
    • Site-wide: 115,432
  • Since beginning of last month:
    • Site-wide: 123,392

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
  • Downloaded 1,458 times
  • Download rankings, all-time:
    • Site-wide: 11,979
    • In genomics: 1,299
  • Year to date:
    • Site-wide: 76,534
  • Since beginning of last month:
    • Site-wide: 79,899

Exome sequencing identifies high-impact trait-associated alleles enriched in Finns

genomics more details view paper
  • Downloaded 1,439 times
  • Download rankings, all-time:
    • Site-wide: 12,227
    • In genomics: 1,319
  • Year to date:
    • Site-wide: 59,265
  • Since beginning of last month:
    • Site-wide: 89,307

Burden analysis of missense variants in 1,330 disease-associated genes on 3D provides insights into the mutation effects

genetics more details view paper
  • Downloaded 1,313 times
  • Download rankings, all-time:
    • Site-wide: 14,092
    • In genetics: 690
  • Year to date:
    • Site-wide: 42,960
  • Since beginning of last month:
    • Site-wide: 38,737

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

genetics more details view paper
  • Downloaded 1,227 times
  • Download rankings, all-time:
    • Site-wide: 15,605
    • In genetics: 768
  • Year to date:
    • Site-wide: 28,528
  • Since beginning of last month:
    • Site-wide: 30,992

Genomic prediction of coronary heart disease

genomics more details view paper
  • Downloaded 1,164 times
  • Download rankings, all-time:
    • Site-wide: 16,880
    • In genomics: 1,745
  • Year to date:
    • Site-wide: 116,995
  • Since beginning of last month:
    • Site-wide: 114,151

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

genetics more details view paper
  • Downloaded 1,138 times
  • Download rankings, all-time:
    • Site-wide: 17,420
    • In genetics: 849
  • Year to date:
    • Site-wide: 76,167
  • Since beginning of last month:
    • Site-wide: 71,182

Haplotype sharing provides insights into fine-scale population history and disease in Finland

genetics more details view paper
  • Downloaded 1,119 times
  • Download rankings, all-time:
    • Site-wide: 17,883
    • In genetics: 873
  • Year to date:
    • Site-wide: 68,164
  • Since beginning of last month:
    • Site-wide: 54,568

Sex-Dependent Shared and Non-Shared Genetic Architecture Across Mood and Psychotic Disorders

genetics more details view paper
  • Downloaded 1,070 times
  • Download rankings, all-time:
    • Site-wide: 19,122
    • In genetics: 924
  • Year to date:
    • Site-wide: 3,974
  • Since beginning of last month:
    • Site-wide: 4,223

Geographic variation and bias in polygenic scores of complex diseases and traits in Finland

genetics more details view paper
  • Downloaded 1,030 times
  • Download rankings, all-time:
    • Site-wide: 20,190
    • In genetics: 969
  • Year to date:
    • Site-wide: 120,408
  • Since beginning of last month:
    • Site-wide: 106,836

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

genomics more details view paper
  • Downloaded 1,027 times
  • Download rankings, all-time:
    • Site-wide: 20,293
    • In genomics: 2,031
  • Year to date:
    • Site-wide: 83,736
  • Since beginning of last month:
    • Site-wide: 71,142

Sleep apnoea is a risk factor for severe COVID-19

infectious diseases more details view paper
  • Downloaded 1,012 times
  • Download rankings, all-time:
    • Site-wide: 20,715
    • In infectious diseases: 1,724
  • Year to date:
    • Site-wide: 12,848
  • Since beginning of last month:
    • Site-wide: 15,157

Rare schizophrenia risk variants are enriched in genes shared with neurodevelopmental disorders

genetics more details view paper
  • Downloaded 999 times
  • Download rankings, all-time:
    • Site-wide: 21,111
    • In genetics: 1,010
  • Year to date:
    • Site-wide: 102,384
  • Since beginning of last month:
    • Site-wide: 86,227

The rate of false polymorphisms introduced when imputing genotypes from global imputation panels

genetics more details view paper
  • Downloaded 968 times
  • Download rankings, all-time:
    • Site-wide: 22,052
    • In genetics: 1,058
  • Year to date:
    • Site-wide: 83,926
  • Since beginning of last month:
    • Site-wide: 103,400

Multivariate genome-wide association analysis of a cytokine network reveals variants with widespread immune, haematological and cardiometabolic pleiotropy

genomics more details view paper
  • Downloaded 956 times
  • Download rankings, all-time:
    • Site-wide: 22,456
    • In genomics: 2,196
  • Year to date:
    • Site-wide: 91,159
  • Since beginning of last month:
    • Site-wide: 104,503

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

genetics more details view paper
  • Downloaded 925 times
  • Download rankings, all-time:
    • Site-wide: 23,596
    • In genetics: 1,141
  • Year to date:
    • Site-wide: 78,269
  • Since beginning of last month:
    • Site-wide: 102,396

Polygenic risk, susceptibility genes, and breast cancer over the life course

oncology more details view paper
  • Downloaded 842 times
  • Download rankings, all-time:
    • Site-wide: 26,933
    • In oncology: 31
  • Year to date:
    • Site-wide: 40,031
  • Since beginning of last month:
    • Site-wide: 42,214

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

genetics more details view paper
  • Downloaded 838 times
  • Download rankings, all-time:
    • Site-wide: 27,123
    • In genetics: 1,310
  • Year to date:
    • Site-wide: 73,494
  • Since beginning of last month:
    • Site-wide: 68,479

An interaction map of circulating metabolites, immune gene networks and their genetic regulation

genomics more details view paper
  • Downloaded 767 times
  • Download rankings, all-time:
    • Site-wide: 30,738
    • In genomics: 2,760
  • Year to date:
    • Site-wide: 111,677
  • Since beginning of last month:
    • Site-wide: 96,852

Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

genomics more details view paper
  • Downloaded 752 times
  • Download rankings, all-time:
    • Site-wide: 31,575
    • In genomics: 2,815
  • Year to date:
    • Site-wide: 94,841
  • Since beginning of last month:
    • Site-wide: 107,645

Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies

genetics more details view paper
  • Downloaded 733 times
  • Download rankings, all-time:
    • Site-wide: 32,776
    • In genetics: 1,584
  • Year to date:
    • Site-wide: 12,993
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    • Site-wide: 9,701

Large-Scale cognitive GWAS Meta-analysis Reveals Tissue-Specific Neural Expression and Potential Nootopic Drug Targets

genomics more details view paper
  • Downloaded 704 times
  • Download rankings, all-time:
    • Site-wide: 34,599
    • In genomics: 3,006
  • Year to date:
    • Site-wide: 129,948
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    • Site-wide: 124,901

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

genetics more details view paper
  • Downloaded 671 times
  • Download rankings, all-time:
    • Site-wide: 36,819
    • In genetics: 1,756
  • Year to date:
    • Site-wide: 19,609
  • Since beginning of last month:
    • Site-wide: 22,838

CCR5-del32 is not deleterious in the homozygous state in humans

genetics more details view paper
  • Downloaded 668 times
  • Download rankings, all-time:
    • Site-wide: 37,053
    • In genetics: 1,770
  • Year to date:
    • Site-wide: 80,138
  • Since beginning of last month:
    • Site-wide: 91,443

Identification of pathogenic variant enriched regions across genes and gene families

genetics more details view paper
  • Downloaded 624 times
  • Download rankings, all-time:
    • Site-wide: 40,508
    • In genetics: 1,916
  • Year to date:
    • Site-wide: 88,563
  • Since beginning of last month:
    • Site-wide: 84,090

Polygenic risk score of alcohol consumption predicts alcohol-related morbidity and all-cause mortality

genomics more details view paper
  • Downloaded 618 times
  • Download rankings, all-time:
    • Site-wide: 40,989
    • In genomics: 3,392
  • Year to date:
    • Site-wide: 70,713
  • Since beginning of last month:
    • Site-wide: 79,314

Advantages of genotype imputation with ethnically matched reference panel for rare variant association analyses

genomics more details view paper
  • Downloaded 598 times
  • Download rankings, all-time:
    • Site-wide: 42,788
    • In genomics: 3,488
  • Year to date:
    • Site-wide: 53,144
  • Since beginning of last month:
    • Site-wide: 45,530

Evaluation of copy number burden in specific epilepsy types from a genome-wide study of 18,564 subjects

genetics more details view paper
  • Downloaded 573 times
  • Download rankings, all-time:
    • Site-wide: 45,052
    • In genetics: 2,110
  • Year to date:
    • Site-wide: 68,956
  • Since beginning of last month:
    • Site-wide: 58,577

Identifying Nootropic Drug Targets via Large-Scale Cognitive GWAS and Transcriptomics

genomics more details view paper
  • Downloaded 513 times
  • Download rankings, all-time:
    • Site-wide: 51,425
    • In genomics: 4,003
  • Year to date:
    • Site-wide: 70,517
  • Since beginning of last month:
    • Site-wide: 64,512

Communicating polygenic and non-genetic risk for atherosclerotic cardiovascular disease - An observational follow-up study

genetic and genomic medicine more details view paper
  • Downloaded 507 times
  • Download rankings, all-time:
    • Site-wide: 52,286
    • In genetic and genomic medicine: 170
  • Year to date:
    • Site-wide: 21,851
  • Since beginning of last month:
    • Site-wide: 12,863

Whole genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

genetics more details view paper
  • Downloaded 482 times
  • Download rankings, all-time:
    • Site-wide: 55,334
    • In genetics: 2,557
  • Year to date:
    • Site-wide: 127,021
  • Since beginning of last month:
    • Site-wide: 107,101

An efficient and accurate frailty model approach for genome-wide survival association analysis controlling for population structure and relatedness in large-scale biobanks

genomics more details view paper
  • Downloaded 438 times
  • Download rankings, all-time:
    • Site-wide: 61,202
    • In genomics: 4,476
  • Year to date:
    • Site-wide: 10,287
  • Since beginning of last month:
    • Site-wide: 11,450

High heritability of ascending aortic diameter and multi-ethnic prediction of thoracic aortic disease.

cardiovascular medicine more details view paper
  • Downloaded 419 times
  • Download rankings, all-time:
    • Site-wide: 64,086
    • In cardiovascular medicine: 95
  • Year to date:
    • Site-wide: 29,083
  • Since beginning of last month:
    • Site-wide: 25,468

Reassessment Of Lesion-Associated Gene And Variant Pathogenicity In Focal Human Epilepsies

genetics more details view paper
  • Downloaded 344 times
  • Download rankings, all-time:
    • Site-wide: 76,901
    • In genetics: 3,507
  • Year to date:
    • Site-wide: 92,223
  • Since beginning of last month:
    • Site-wide: 107,188

Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles

genetic and genomic medicine more details view paper
  • Downloaded 332 times
  • Download rankings, all-time:
    • Site-wide: 79,065
    • In genetic and genomic medicine: 281
  • Year to date:
    • Site-wide: 5,697
  • Since beginning of last month:
    • Site-wide: 15,244

ANGPTL8 protein-truncating variant and the risk of coronary disease, type 2 diabetes and adverse effects

genetic and genomic medicine more details view paper
  • Downloaded 329 times
  • Download rankings, all-time:
    • Site-wide: 79,672
    • In genetic and genomic medicine: 287
  • Year to date:
    • Site-wide: 70,049
  • Since beginning of last month:
    • Site-wide: 78,579

High-resolution population-specific recombination rates and their effect on phasing and genotype imputation

genomics more details view paper
  • Downloaded 319 times
  • Download rankings, all-time:
    • Site-wide: 81,759
    • In genomics: 5,324
  • Year to date:
    • Site-wide: 118,014
  • Since beginning of last month:
    • Site-wide: 131,908

Association of Structural Variation with Cardiometabolic Traits in Finns

genetics more details view paper
  • Downloaded 309 times
  • Download rankings, all-time:
    • Site-wide: 83,800
    • In genetics: 3,786
  • Year to date:
    • Site-wide: 15,686
  • Since beginning of last month:
    • Site-wide: 14,761

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

genomics more details view paper
  • Downloaded 295 times
  • Download rankings, all-time:
    • Site-wide: 86,627
    • In genomics: 5,512
  • Year to date:
    • Site-wide: 98,106
  • Since beginning of last month:
    • Site-wide: 116,893

Coronary artery disease risk and lipidomic profiles are similar in familial and population-ascertained hyperlipidemias

epidemiology more details view paper
  • Downloaded 282 times
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    • Site-wide: 89,517
    • In epidemiology: 3,679
  • Year to date:
    • Site-wide: 97,103
  • Since beginning of last month:
    • Site-wide: 96,442

Mitochondrial genome copy number in human blood-derived DNA is strongly associated with insulin levels and related metabolic traits and primarily reflects cell-type composition differences

genetic and genomic medicine more details view paper
  • Downloaded 184 times
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    • Site-wide: 111,052
    • In genetic and genomic medicine: 490
  • Year to date:
    • Site-wide: 32,148
  • Since beginning of last month:
    • Site-wide: 26,982

Genome-wide Screen of Otosclerosis in Population Biobanks: 18 Loci and Shared Heritability with Skeletal Structure

genetic and genomic medicine more details view paper
  • Downloaded 164 times
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    • Site-wide: 115,349
    • In genetic and genomic medicine: 533
  • Year to date:
    • Site-wide: 43,035
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    • Site-wide: 27,956

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