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Author: Aarno Palotie

Rankings

  • All-time downloads: 120,401 (rank: 854 )
  • Categories:
    • cardiovascular medicine: 663 (rank: 777 )
    • epidemiology: 295 (rank: 23,208 (tie) )
    • genetic and genomic medicine: 10,003 (rank: 81 )
    • genetics: 67,218 (rank: 51 )
    • genomics: 40,226 (rank: 236 )
    • infectious diseases: 1,095 (rank: 23,538 (tie) )
    • oncology: 901 (rank: 749 (tie) )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 22,088 times
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    • Site-wide: 341
    • In genomics: 13
  • Year to date:
    • Site-wide: 30,789
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    • Site-wide: 44,851

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

genetics more details view paper
  • Downloaded 10,395 times
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    • Site-wide: 881
    • In genetics: 23
  • Year to date:
    • Site-wide: 7,811
  • Since beginning of last month:
    • Site-wide: 8,793

Common risk variants identified in autism spectrum disorder

genetics more details view paper
  • Downloaded 8,452 times
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    • Site-wide: 1,139
    • In genetics: 29
  • Year to date:
    • Site-wide: 2,477
  • Since beginning of last month:
    • Site-wide: 2,338

A reference panel of 64,976 haplotypes for genotype imputation

genetics more details view paper
  • Downloaded 4,601 times
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    • Site-wide: 2,565
    • In genetics: 86
  • Year to date:
    • Site-wide: 107,894
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    • Site-wide: 114,986

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

genetic and genomic medicine more details view paper
  • Downloaded 4,512 times
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    • Site-wide: 2,641
    • In genetic and genomic medicine: 11
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    • Site-wide: 938
  • Since beginning of last month:
    • Site-wide: 1,037

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

genetics more details view paper
  • Downloaded 3,569 times
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    • Site-wide: 3,695
    • In genetics: 132
  • Year to date:
    • Site-wide: 46,549
  • Since beginning of last month:
    • Site-wide: 62,448

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 3,321 times
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    • Site-wide: 4,083
    • In genetics: 155
  • Year to date:
    • Site-wide: 45,878
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    • Site-wide: 50,903

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

genomics more details view paper
  • Downloaded 2,874 times
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    • Site-wide: 5,011
    • In genomics: 516
  • Year to date:
    • Site-wide: 25,998
  • Since beginning of last month:
    • Site-wide: 23,034

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

genetics more details view paper
  • Downloaded 2,660 times
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    • Site-wide: 5,598
    • In genetics: 241
  • Year to date:
    • Site-wide: 25,658
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    • Site-wide: 28,062

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

genetics more details view paper
  • Downloaded 2,570 times
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    • Site-wide: 5,891
    • In genetics: 254
  • Year to date:
    • Site-wide: 22,126
  • Since beginning of last month:
    • Site-wide: 36,465

A global atlas of genetic associations of 220 deep phenotypes

genetic and genomic medicine more details view paper
  • Downloaded 2,529 times
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    • Site-wide: 6,045
    • In genetic and genomic medicine: 24
  • Year to date:
    • Site-wide: 1,526
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    • Site-wide: 3,477

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

genetics more details view paper
  • Downloaded 2,527 times
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    • Site-wide: 6,056
    • In genetics: 262
  • Year to date:
    • Site-wide: 107,946
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    • Site-wide: 119,153

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

genetics more details view paper
  • Downloaded 2,328 times
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    • Site-wide: 6,834
    • In genetics: 306
  • Year to date:
    • Site-wide: 103,386
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    • Site-wide: 74,095

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

genetics more details view paper
  • Downloaded 2,068 times
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    • Site-wide: 8,094
    • In genetics: 357
  • Year to date:
    • Site-wide: 54,990
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    • Site-wide: 58,540

De novo Variants In Neurodevelopmental Disorders With Epilepsy

genetics more details view paper
  • Downloaded 2,009 times
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    • Site-wide: 8,453
    • In genetics: 371
  • Year to date:
    • Site-wide: 47,655
  • Since beginning of last month:
    • Site-wide: 63,123

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 2,004 times
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    • Site-wide: 8,485
    • In genomics: 886
  • Year to date:
    • Site-wide: 58,859
  • Since beginning of last month:
    • Site-wide: 58,203

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

genetics more details view paper
  • Downloaded 1,905 times
  • Download rankings, all-time:
    • Site-wide: 9,171
    • In genetics: 405
  • Year to date:
    • Site-wide: 87,601
  • Since beginning of last month:
    • Site-wide: 115,363

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

genetics more details view paper
  • Downloaded 1,823 times
  • Download rankings, all-time:
    • Site-wide: 9,781
    • In genetics: 441
  • Year to date:
    • Site-wide: 64,228
  • Since beginning of last month:
    • Site-wide: 105,036

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

genomics more details view paper
  • Downloaded 1,721 times
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    • Site-wide: 10,637
    • In genomics: 1,107
  • Year to date:
    • Site-wide: 77,666
  • Since beginning of last month:
    • Site-wide: 115,454

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

genetics more details view paper
  • Downloaded 1,661 times
  • Download rankings, all-time:
    • Site-wide: 11,222
    • In genetics: 509
  • Year to date:
    • Site-wide: 100,128
  • Since beginning of last month:
    • Site-wide: 114,058

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

genetics more details view paper
  • Downloaded 1,544 times
  • Download rankings, all-time:
    • Site-wide: 12,438
    • In genetics: 575
  • Year to date:
    • Site-wide: 130,725
  • Since beginning of last month:
    • Site-wide: 117,698

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
  • Downloaded 1,476 times
  • Download rankings, all-time:
    • Site-wide: 13,318
    • In genomics: 1,379
  • Year to date:
    • Site-wide: 96,509
  • Since beginning of last month:
    • Site-wide: 106,026

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

genomics more details view paper
  • Downloaded 1,462 times
  • Download rankings, all-time:
    • Site-wide: 13,510
    • In genomics: 1,393
  • Year to date:
    • Site-wide: 78,716
  • Since beginning of last month:
    • Site-wide: 73,441

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 1,390 times
  • Download rankings, all-time:
    • Site-wide: 14,600
    • In genetics: 682
  • Year to date:
    • Site-wide: 40,349
  • Since beginning of last month:
    • Site-wide: 23,812

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

genetics more details view paper
  • Downloaded 1,299 times
  • Download rankings, all-time:
    • Site-wide: 16,204
    • In genetics: 761
  • Year to date:
    • Site-wide: 32,925
  • Since beginning of last month:
    • Site-wide: 34,925

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

genetics more details view paper
  • Downloaded 1,274 times
  • Download rankings, all-time:
    • Site-wide: 16,672
    • In genetics: 787
  • Year to date:
    • Site-wide: 5,430
  • Since beginning of last month:
    • Site-wide: 9,215

Genomic prediction of coronary heart disease

genomics more details view paper
  • Downloaded 1,181 times
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    • Site-wide: 18,647
    • In genomics: 1,832
  • Year to date:
    • Site-wide: 121,679
  • Since beginning of last month:
    • Site-wide: 97,677

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

genetics more details view paper
  • Downloaded 1,160 times
  • Download rankings, all-time:
    • Site-wide: 19,147
    • In genetics: 899
  • Year to date:
    • Site-wide: 92,251
  • Since beginning of last month:
    • Site-wide: 81,983

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

genetics more details view paper
  • Downloaded 1,148 times
  • Download rankings, all-time:
    • Site-wide: 19,466
    • In genetics: 914
  • Year to date:
    • Site-wide: 80,230
  • Since beginning of last month:
    • Site-wide: 106,178

Sleep apnoea is a risk factor for severe COVID-19

infectious diseases more details view paper
  • Downloaded 1,095 times
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    • Site-wide: 20,850
    • In infectious diseases: 1,901
  • Year to date:
    • Site-wide: 18,201
  • Since beginning of last month:
    • Site-wide: 44,586

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

genetics more details view paper
  • Downloaded 1,044 times
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    • Site-wide: 22,381
    • In genetics: 1,036
  • Year to date:
    • Site-wide: 128,607
  • Since beginning of last month:
    • Site-wide: 139,885

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

genomics more details view paper
  • Downloaded 1,043 times
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    • Site-wide: 22,406
    • In genomics: 2,147
  • Year to date:
    • Site-wide: 104,157
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    • Site-wide: 112,503

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

genetics more details view paper
  • Downloaded 1,028 times
  • Download rankings, all-time:
    • Site-wide: 22,901
    • In genetics: 1,057
  • Year to date:
    • Site-wide: 97,955
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    • Site-wide: 50,603

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

genetics more details view paper
  • Downloaded 983 times
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    • Site-wide: 24,415
    • In genetics: 1,132
  • Year to date:
    • Site-wide: 105,459
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    • Site-wide: 104,530

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

genomics more details view paper
  • Downloaded 979 times
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    • Site-wide: 24,564
    • In genomics: 2,299
  • Year to date:
    • Site-wide: 100,510
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    • Site-wide: 80,834

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

genetics more details view paper
  • Downloaded 959 times
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    • Site-wide: 25,324
    • In genetics: 1,180
  • Year to date:
    • Site-wide: 80,403
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    • Site-wide: 62,767

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

oncology more details view paper
  • Downloaded 901 times
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    • Site-wide: 27,648
    • In oncology: 36
  • Year to date:
    • Site-wide: 44,926
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    • Site-wide: 49,315

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

genetics more details view paper
  • Downloaded 858 times
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    • Site-wide: 29,633
    • In genetics: 1,378
  • Year to date:
    • Site-wide: 92,680
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    • Site-wide: 97,438

Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility

genetic and genomic medicine more details view paper
  • Downloaded 795 times
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    • Site-wide: 32,919
    • In genetic and genomic medicine: 125
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    • Site-wide: 3,819
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    • Site-wide: 486

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

genomics more details view paper
  • Downloaded 792 times
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    • Site-wide: 33,129
    • In genomics: 2,864
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    • Site-wide: 107,913
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    • Site-wide: 94,164

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

genetics more details view paper
  • Downloaded 771 times
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    • Site-wide: 34,361
    • In genetics: 1,584
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    • Site-wide: 23,517
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    • Site-wide: 74,236

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

genomics more details view paper
  • Downloaded 769 times
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    • Site-wide: 34,472
    • In genomics: 2,943
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    • Site-wide: 109,682
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    • Site-wide: 80,620

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

genetics more details view paper
  • Downloaded 739 times
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    • Site-wide: 36,473
    • In genetics: 1,681
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    • Site-wide: 26,543
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    • Site-wide: 38,310

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

genomics more details view paper
  • Downloaded 714 times
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    • Site-wide: 38,251
    • In genomics: 3,180
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    • Site-wide: 140,743
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    • Site-wide: 136,136

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

genetics more details view paper
  • Downloaded 677 times
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    • Site-wide: 41,048
    • In genetics: 1,868
  • Year to date:
    • Site-wide: 111,294
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    • Site-wide: 129,022

Identification of pathogenic variant enriched regions across genes and gene families

genetics more details view paper
  • Downloaded 662 times
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    • Site-wide: 42,213
    • In genetics: 1,918
  • Year to date:
    • Site-wide: 81,381
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    • Site-wide: 39,888

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

genomics more details view paper
  • Downloaded 641 times
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    • Site-wide: 43,961
    • In genomics: 3,534
  • Year to date:
    • Site-wide: 87,602
  • Since beginning of last month:
    • Site-wide: 124,330

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

genomics more details view paper
  • Downloaded 634 times
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    • Site-wide: 44,599
    • In genomics: 3,572
  • Year to date:
    • Site-wide: 64,369
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    • Site-wide: 69,136

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 594 times
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    • Site-wide: 48,335
    • In genomics: 3,768
  • Year to date:
    • Site-wide: 11,382
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    • Site-wide: 10,962

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

genetics more details view paper
  • Downloaded 590 times
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    • Site-wide: 48,732
    • In genetics: 2,194
  • Year to date:
    • Site-wide: 92,724
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    • Site-wide: 126,170

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

genomics more details view paper
  • Downloaded 589 times
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    • Site-wide: 48,892
    • In genomics: 3,797
  • Year to date:
    • Site-wide: 51,117
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    • Site-wide: 63,828

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

genetic and genomic medicine more details view paper
  • Downloaded 577 times
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    • Site-wide: 50,125
    • In genetic and genomic medicine: 194
  • Year to date:
    • Site-wide: 28,135
  • Since beginning of last month:
    • Site-wide: 46,918

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 488 times
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    • Site-wide: 61,223
    • In genetic and genomic medicine: 242
  • Year to date:
    • Site-wide: 7,833
  • Since beginning of last month:
    • Site-wide: 11,869

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 486 times
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    • Site-wide: 61,449
    • In genetics: 2,752
  • Year to date:
    • Site-wide: 146,027
  • Since beginning of last month:
    • Site-wide: 131,405

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

cardiovascular medicine more details view paper
  • Downloaded 481 times
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    • Site-wide: 62,126
    • In cardiovascular medicine: 97
  • Year to date:
    • Site-wide: 35,839
  • Since beginning of last month:
    • Site-wide: 36,860

Association of Structural Variation with Cardiometabolic Traits in Finns

genetics more details view paper
  • Downloaded 364 times
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    • Site-wide: 81,622
    • In genetics: 3,615
  • Year to date:
    • Site-wide: 24,794
  • Since beginning of last month:
    • Site-wide: 62,216

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 364 times
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    • Site-wide: 81,723
    • In genetic and genomic medicine: 341
  • Year to date:
    • Site-wide: 76,652
  • Since beginning of last month:
    • Site-wide: 83,407

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

genetics more details view paper
  • Downloaded 353 times
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    • Site-wide: 83,863
    • In genetics: 3,705
  • Year to date:
    • Site-wide: 121,113
  • Since beginning of last month:
    • Site-wide: 136,440

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

genomics more details view paper
  • Downloaded 334 times
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    • Site-wide: 87,837
    • In genomics: 5,589
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    • Site-wide: 124,978
  • Since beginning of last month:
    • Site-wide: 107,686

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

genomics more details view paper
  • Downloaded 331 times
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    • Site-wide: 88,399
    • In genomics: 5,606
  • Year to date:
    • Site-wide: 87,313
  • Since beginning of last month:
    • Site-wide: 99,310

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

epidemiology more details view paper
  • Downloaded 295 times
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    • Site-wide: 96,411
    • In epidemiology: 4,031
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    • Site-wide: 117,623
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    • Site-wide: 123,377

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 227 times
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    • Site-wide: 112,627
    • In genetic and genomic medicine: 560
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    • Site-wide: 44,573
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    • Site-wide: 53,006

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 208 times
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    • Site-wide: 117,139
    • In genetic and genomic medicine: 603
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    • Site-wide: 53,281
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    • Site-wide: 72,916

Genetic variant in SPDL1 reveals novel mechanism linking pulmonary fibrosis risk and cancer protection

genetic and genomic medicine more details view paper
  • Downloaded 183 times
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    • Site-wide: 123,277
    • In genetic and genomic medicine: 641
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    • Site-wide: 29,843
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    • Site-wide: 21,163

Loss-of-function of MFGE8 and protection against coronary atherosclerosis

cardiovascular medicine more details view paper
  • Downloaded 182 times
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    • Site-wide: 123,598
    • In cardiovascular medicine: 305
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    • Site-wide: 30,078
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    • Site-wide: 3,710

Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci

genetic and genomic medicine more details view paper
  • Downloaded 120 times
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    • Site-wide: 137,230
    • In genetic and genomic medicine: 749
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