Author: Aarno Palotie

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Preprints

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

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

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Common risk variants identified in autism spectrum disorder

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A reference panel of 64,976 haplotypes for genotype imputation

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

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

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

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

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

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

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

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

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

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De novo Variants In Neurodevelopmental Disorders With Epilepsy

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

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

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Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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

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

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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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

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

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Genomic prediction of coronary heart disease

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

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

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

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

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

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Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

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

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

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

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

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Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

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

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

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

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

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Identification of pathogenic variant enriched regions across genes and gene families

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

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

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

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

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

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

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

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

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

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Polygenic Hyperlipidemias and Coronary Artery Disease Risk

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

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