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Author: Aarno Palotie

Rankings

  • All-time downloads: 108,005 (rank: 793 )
  • Categories:
    • cardiovascular medicine: 331 (rank: 1,119 (tie) )
    • epidemiology: 263 (rank: 18,588 (tie) )
    • genetic and genomic medicine: 4,308 (rank: 116 )
    • genetics: 62,697 (rank: 52 )
    • genomics: 38,760 (rank: 190 )
    • infectious diseases: 869 (rank: 18,733 (tie) )
    • oncology: 777 (rank: 508 (tie) )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 21,925 times
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    • Site-wide: 274
    • In genomics: 11
  • Year to date:
    • Site-wide: 20,430
  • Since beginning of last month:
    • Site-wide: 31,450

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

genetics more details view paper
  • Downloaded 9,959 times
  • Download rankings, all-time:
    • Site-wide: 703
    • In genetics: 22
  • Year to date:
    • Site-wide: 3,976
  • Since beginning of last month:
    • Site-wide: 3,329

Common risk variants identified in autism spectrum disorder

genetics more details view paper
  • Downloaded 7,467 times
  • Download rankings, all-time:
    • Site-wide: 1,025
    • In genetics: 35
  • Year to date:
    • Site-wide: 1,834
  • Since beginning of last month:
    • Site-wide: 2,761

A reference panel of 64,976 haplotypes for genotype imputation

genetics more details view paper
  • Downloaded 4,562 times
  • Download rankings, all-time:
    • Site-wide: 1,971
    • In genetics: 80
  • Year to date:
    • Site-wide: 88,396
  • Since beginning of last month:
    • Site-wide: 59,794

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

genetics more details view paper
  • Downloaded 3,457 times
  • Download rankings, all-time:
    • Site-wide: 2,950
    • In genetics: 125
  • Year to date:
    • Site-wide: 34,742
  • Since beginning of last month:
    • Site-wide: 39,848

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 3,210 times
  • Download rankings, all-time:
    • Site-wide: 3,297
    • In genetics: 146
  • Year to date:
    • Site-wide: 26,158
  • Since beginning of last month:
    • Site-wide: 43,536

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

genomics more details view paper
  • Downloaded 2,686 times
  • Download rankings, all-time:
    • Site-wide: 4,221
    • In genomics: 502
  • Year to date:
    • Site-wide: 17,605
  • Since beginning of last month:
    • Site-wide: 15,250

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

genetics more details view paper
  • Downloaded 2,489 times
  • Download rankings, all-time:
    • Site-wide: 4,735
    • In genetics: 230
  • Year to date:
    • Site-wide: 82,258
  • Since beginning of last month:
    • Site-wide: 97,148

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

genetics more details view paper
  • Downloaded 2,476 times
  • Download rankings, all-time:
    • Site-wide: 4,779
    • In genetics: 233
  • Year to date:
    • Site-wide: 12,455
  • Since beginning of last month:
    • Site-wide: 15,672

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

genetic and genomic medicine more details view paper
  • Downloaded 2,380 times
  • Download rankings, all-time:
    • Site-wide: 5,081
    • In genetic and genomic medicine: 12
  • Year to date:
    • Site-wide: 1,097
  • Since beginning of last month:
    • Site-wide: 1,395

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

genetics more details view paper
  • Downloaded 2,369 times
  • Download rankings, all-time:
    • Site-wide: 5,115
    • In genetics: 247
  • Year to date:
    • Site-wide: 8,122
  • Since beginning of last month:
    • Site-wide: 14,231

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

genetics more details view paper
  • Downloaded 2,284 times
  • Download rankings, all-time:
    • Site-wide: 5,409
    • In genetics: 269
  • Year to date:
    • Site-wide: 113,866
  • Since beginning of last month:
    • Site-wide: 92,652

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

genetics more details view paper
  • Downloaded 1,979 times
  • Download rankings, all-time:
    • Site-wide: 6,629
    • In genetics: 334
  • Year to date:
    • Site-wide: 23,590
  • Since beginning of last month:
    • Site-wide: 37,223

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 1,924 times
  • Download rankings, all-time:
    • Site-wide: 6,939
    • In genomics: 792
  • Year to date:
    • Site-wide: 18,954
  • Since beginning of last month:
    • Site-wide: 42,280

De novo Variants In Neurodevelopmental Disorders With Epilepsy

genetics more details view paper
  • Downloaded 1,901 times
  • Download rankings, all-time:
    • Site-wide: 7,054
    • In genetics: 347
  • Year to date:
    • Site-wide: 27,209
  • Since beginning of last month:
    • Site-wide: 44,552

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

genetics more details view paper
  • Downloaded 1,856 times
  • Download rankings, all-time:
    • Site-wide: 7,298
    • In genetics: 362
  • Year to date:
    • Site-wide: 40,909
  • Since beginning of last month:
    • Site-wide: 56,202

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

genetics more details view paper
  • Downloaded 1,756 times
  • Download rankings, all-time:
    • Site-wide: 7,923
    • In genetics: 399
  • Year to date:
    • Site-wide: 15,902
  • Since beginning of last month:
    • Site-wide: 40,740

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

genomics more details view paper
  • Downloaded 1,660 times
  • Download rankings, all-time:
    • Site-wide: 8,671
    • In genomics: 1,005
  • Year to date:
    • Site-wide: 51,609
  • Since beginning of last month:
    • Site-wide: 42,481

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

genetics more details view paper
  • Downloaded 1,615 times
  • Download rankings, all-time:
    • Site-wide: 9,048
    • In genetics: 460
  • Year to date:
    • Site-wide: 116,945
  • Since beginning of last month:
    • Site-wide: 53,892

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

genetics more details view paper
  • Downloaded 1,522 times
  • Download rankings, all-time:
    • Site-wide: 9,881
    • In genetics: 499
  • Year to date:
    • Site-wide: 73,140
  • Since beginning of last month:
    • Site-wide: 86,821

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
  • Downloaded 1,431 times
  • Download rankings, all-time:
    • Site-wide: 10,808
    • In genomics: 1,227
  • Year to date:
    • Site-wide: 71,088
  • Since beginning of last month:
    • Site-wide: 103,093

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

genomics more details view paper
  • Downloaded 1,403 times
  • Download rankings, all-time:
    • Site-wide: 11,132
    • In genomics: 1,268
  • Year to date:
    • Site-wide: 45,201
  • Since beginning of last month:
    • Site-wide: 66,200

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 1,260 times
  • Download rankings, all-time:
    • Site-wide: 13,103
    • In genetics: 680
  • Year to date:
    • Site-wide: 36,143
  • Since beginning of last month:
    • Site-wide: 28,535

Genomic prediction of coronary heart disease

genomics more details view paper
  • Downloaded 1,150 times
  • Download rankings, all-time:
    • Site-wide: 15,003
    • In genomics: 1,627
  • Year to date:
    • Site-wide: 116,657
  • Since beginning of last month:
    • Site-wide: 96,346

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

genetics more details view paper
  • Downloaded 1,141 times
  • Download rankings, all-time:
    • Site-wide: 15,205
    • In genetics: 789
  • Year to date:
    • Site-wide: 36,431
  • Since beginning of last month:
    • Site-wide: 19,088

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

genetics more details view paper
  • Downloaded 1,112 times
  • Download rankings, all-time:
    • Site-wide: 15,797
    • In genetics: 818
  • Year to date:
    • Site-wide: 61,161
  • Since beginning of last month:
    • Site-wide: 69,991

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

genetics more details view paper
  • Downloaded 1,088 times
  • Download rankings, all-time:
    • Site-wide: 16,358
    • In genetics: 845
  • Year to date:
    • Site-wide: 60,572
  • Since beginning of last month:
    • Site-wide: 70,457

A global atlas of genetic associations of 220 deep phenotypes

genetic and genomic medicine more details view paper
  • Downloaded 1,020 times
  • Download rankings, all-time:
    • Site-wide: 17,999
    • In genetic and genomic medicine: 48
  • Year to date:
    • Site-wide: 7,644
  • Since beginning of last month:
    • Site-wide: 7,212

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

genetics more details view paper
  • Downloaded 1,018 times
  • Download rankings, all-time:
    • Site-wide: 18,066
    • In genetics: 923
  • Year to date:
    • Site-wide: 98,974
  • Since beginning of last month:
    • Site-wide: 61,877

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

genomics more details view paper
  • Downloaded 1,003 times
  • Download rankings, all-time:
    • Site-wide: 18,484
    • In genomics: 1,931
  • Year to date:
    • Site-wide: 78,970
  • Since beginning of last month:
    • Site-wide: 92,064

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

genetics more details view paper
  • Downloaded 982 times
  • Download rankings, all-time:
    • Site-wide: 19,060
    • In genetics: 969
  • Year to date:
    • Site-wide: 95,021
  • Since beginning of last month:
    • Site-wide: 90,697

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

genetics more details view paper
  • Downloaded 943 times
  • Download rankings, all-time:
    • Site-wide: 20,164
    • In genetics: 1,013
  • Year to date:
    • Site-wide: 97,433
  • Since beginning of last month:
    • Site-wide: 79,175

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

genomics more details view paper
  • Downloaded 938 times
  • Download rankings, all-time:
    • Site-wide: 20,337
    • In genomics: 2,072
  • Year to date:
    • Site-wide: 62,684
  • Since beginning of last month:
    • Site-wide: 50,910

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

genetics more details view paper
  • Downloaded 898 times
  • Download rankings, all-time:
    • Site-wide: 21,649
    • In genetics: 1,087
  • Year to date:
    • Site-wide: 74,871
  • Since beginning of last month:
    • Site-wide: 62,539

Sleep apnoea is a risk factor for severe COVID-19

infectious diseases more details view paper
  • Downloaded 869 times
  • Download rankings, all-time:
    • Site-wide: 22,721
    • In infectious diseases: 1,591
  • Year to date:
    • Site-wide: 5,394
  • Since beginning of last month:
    • Site-wide: 2,877

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

genetics more details view paper
  • Downloaded 816 times
  • Download rankings, all-time:
    • Site-wide: 24,847
    • In genetics: 1,254
  • Year to date:
    • Site-wide: 31,414
  • Since beginning of last month:
    • Site-wide: 43,021

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

oncology more details view paper
  • Downloaded 777 times
  • Download rankings, all-time:
    • Site-wide: 26,624
    • In oncology: 25
  • Year to date:
    • Site-wide: 95,865
  • Since beginning of last month:
    • Site-wide: 17,256

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

genomics more details view paper
  • Downloaded 754 times
  • Download rankings, all-time:
    • Site-wide: 27,751
    • In genomics: 2,604
  • Year to date:
    • Site-wide: 80,055
  • Since beginning of last month:
    • Site-wide: 118,873

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

genomics more details view paper
  • Downloaded 738 times
  • Download rankings, all-time:
    • Site-wide: 28,596
    • In genomics: 2,655
  • Year to date:
    • Site-wide: 40,793
  • Since beginning of last month:
    • Site-wide: 110,739

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

genomics more details view paper
  • Downloaded 696 times
  • Download rankings, all-time:
    • Site-wide: 30,951
    • In genomics: 2,813
  • Year to date:
    • Site-wide: 101,007
  • Since beginning of last month:
    • Site-wide: 121,061

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

genetics more details view paper
  • Downloaded 675 times
  • Download rankings, all-time:
    • Site-wide: 32,308
    • In genetics: 1,621
  • Year to date:
    • Site-wide: 9,738
  • Since beginning of last month:
    • Site-wide: 9,982

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

genetics more details view paper
  • Downloaded 644 times
  • Download rankings, all-time:
    • Site-wide: 34,393
    • In genetics: 1,719
  • Year to date:
    • Site-wide: 58,441
  • Since beginning of last month:
    • Site-wide: 63,559

Identification of pathogenic variant enriched regions across genes and gene families

genetics more details view paper
  • Downloaded 598 times
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    • Site-wide: 37,758
    • In genetics: 1,871
  • Year to date:
    • Site-wide: 121,742
  • Since beginning of last month:
    • Site-wide: 72,282

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

genomics more details view paper
  • Downloaded 589 times
  • Download rankings, all-time:
    • Site-wide: 38,472
    • In genomics: 3,270
  • Year to date:
    • Site-wide: 58,628
  • Since beginning of last month:
    • Site-wide: 97,986

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

genetics more details view paper
  • Downloaded 560 times
  • Download rankings, all-time:
    • Site-wide: 41,025
    • In genetics: 2,005
  • Year to date:
    • Site-wide: 36,354
  • Since beginning of last month:
    • Site-wide: 81,751

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

genomics more details view paper
  • Downloaded 552 times
  • Download rankings, all-time:
    • Site-wide: 41,805
    • In genomics: 3,462
  • Year to date:
    • Site-wide: 81,459
  • Since beginning of last month:
    • Site-wide: 75,227

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

genetics more details view paper
  • Downloaded 551 times
  • Download rankings, all-time:
    • Site-wide: 41,929
    • In genetics: 2,050
  • Year to date:
    • Site-wide: 26,805
  • Since beginning of last month:
    • Site-wide: 36,562

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

genetics more details view paper
  • Downloaded 544 times
  • Download rankings, all-time:
    • Site-wide: 42,555
    • In genetics: 2,086
  • Year to date:
    • Site-wide: 51,372
  • Since beginning of last month:
    • Site-wide: 73,092

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

genomics more details view paper
  • Downloaded 485 times
  • Download rankings, all-time:
    • Site-wide: 48,756
    • In genomics: 3,881
  • Year to date:
    • Site-wide: 51,637
  • Since beginning of last month:
    • Site-wide: 63,624

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 471 times
  • Download rankings, all-time:
    • Site-wide: 50,364
    • In genetics: 2,444
  • Year to date:
    • Site-wide: 121,574
  • Since beginning of last month:
    • Site-wide: 109,618

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

genetic and genomic medicine more details view paper
  • Downloaded 393 times
  • Download rankings, all-time:
    • Site-wide: 60,892
    • In genetic and genomic medicine: 167
  • Year to date:
    • Site-wide: 46,650
  • Since beginning of last month:
    • Site-wide: 31,381

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

cardiovascular medicine more details view paper
  • Downloaded 331 times
  • Download rankings, all-time:
    • Site-wide: 70,961
    • In cardiovascular medicine: 102
  • Year to date:
    • Site-wide: 62,257
  • Since beginning of last month:
    • Site-wide: 35,911

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

genetics more details view paper
  • Downloaded 324 times
  • Download rankings, all-time:
    • Site-wide: 72,236
    • In genetics: 3,423
  • Year to date:
    • Site-wide: 83,114
  • Since beginning of last month:
    • Site-wide: 120,785

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

genomics more details view paper
  • Downloaded 306 times
  • Download rankings, all-time:
    • Site-wide: 75,556
    • In genomics: 5,082
  • Year to date:
    • Site-wide: 102,823
  • Since beginning of last month:
    • Site-wide: 38,987

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 301 times
  • Download rankings, all-time:
    • Site-wide: 76,484
    • In genetic and genomic medicine: 215
  • Year to date:
    • Site-wide: 48,279
  • Since beginning of last month:
    • Site-wide: 27,354

Polygenic Hyperlipidemias and Coronary Artery Disease Risk

genomics more details view paper
  • Downloaded 274 times
  • Download rankings, all-time:
    • Site-wide: 81,904
    • In genomics: 5,316
  • Year to date:
    • Site-wide: 112,852
  • Since beginning of last month:
    • Site-wide: 73,347

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

epidemiology more details view paper
  • Downloaded 263 times
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    • Site-wide: 84,107
    • In epidemiology: 3,394
  • Year to date:
    • Site-wide: 87,111
  • Since beginning of last month:
    • Site-wide: 103,185

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 246 times
  • Download rankings, all-time:
    • Site-wide: 87,703
    • In genomics: 5,523
  • Year to date:
    • Site-wide: 9,659
  • Since beginning of last month:
    • Site-wide: 9,375

Association of Structural Variation with Cardiometabolic Traits in Finns

genetics more details view paper
  • Downloaded 170 times
  • Download rankings, all-time:
    • Site-wide: 103,385
    • In genetics: 4,679
  • Year to date:
    • Site-wide: 15,554
  • Since beginning of last month:
    • Site-wide: 3,187

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 108 times
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    • Site-wide: 114,851
    • In genetic and genomic medicine: 469
  • Year to date:
    • Site-wide: 52,910
  • Since beginning of last month:
    • Site-wide: 36,447

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 106 times
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    • Site-wide: 115,204
    • In genetic and genomic medicine: 470
  • Year to date:
    • Site-wide: 48,406
  • Since beginning of last month:
    • Site-wide: 26,235

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