Author: Valentina Escott-Price

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Preprints

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

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Genomewide association study identifies 30 loci associated with bipolar disorder

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  • Site-wide: 1,126
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Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection

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Genetic variability in response to Aβ deposition influences Alzheimer's risk

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A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

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  • Site-wide: 7,928
  • In neuroscience: 837
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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

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  • Site-wide: 8,319
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Genome-wide association study of over 40,000 bipolar disorder cases provides novel biological insights

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  • Site-wide: 10,112
  • In psychiatry and clinical psychology: 32
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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 11,245
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Genome-wide analysis in UK Biobank identifies four loci associated with mood instability and genetic correlation with major depressive disorder, anxiety disorder and schizophrenia.

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  • In neuroscience: 1,922
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Medical consequences of pathogenic CNVs in adults: Analysis of the UK Biobank

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  • In genomics: 1,910
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Genome-wide analysis of risk-taking behaviour and cross-disorder genetic correlations in 116,255 individuals from the UK Biobank cohort

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  • In genetics: 1,229
• Year to date:
  • Site-wide: 74,155
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The genomic basis of mood instability: identification of 46 loci in 363,705 UK Biobank participants, genetic correlation with psychiatric disorders, and association with gene expression and function

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  • Site-wide: 28,000
  • In genetics: 1,397
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Genetic association study of psychotic experiences in UK Biobank

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Association between schizophrenia and both loss of function and missense mutations in paralog conserved sites of voltage-gated sodium channels

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Psychosis and the level of mood incongruence in Bipolar Disorder are related to genetic liability for Schizophrenia

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  • Site-wide: 30,439
  • In genetics: 1,515
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Heritability and genetic variance of dementia with Lewy bodies

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A Transcriptome Wide Association Study implicates specific pre- and post-synaptic abnormalities in Schizophrenia

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Analyses of rare and common alleles in parent-proband trios implicate rare missense variants in SLC6A1 in schizophrenia and confirm the involvement of loss of function intolerant and neurodevelopmental disorder genes.

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Gene based Analysis in HRC Imputed Genome Wide Association Data Identifies Three Novel Genes for Alzheimer's Disease

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Effects of pathogenic CNVs on physical traits in participants of the UK Biobank

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  • Site-wide: 56,386
  • In genetics: 2,678
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Positioning Personal Polygenic Risk score against the population background.

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Differences in Genetic Liability for Insomnia and Hypersomnia in Bipolar Disorder Subtypes

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Monocyte-specific changes in gene expression implicate LACTB2 and PLIN2 in Alzheimer's disease.

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  • In neuroscience: 13,503
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ASSESSING THE RELATIONSHIP BETWEEN MONOALLELIC PARK2 MUTATIONS AND PARKINSONS RISK

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  • In genetic and genomic medicine: 484
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Identifying genetic variants associated with cerebellar volume in 33,265 individuals from the UK-Biobank

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  • Site-wide: 112,887
  • In neuroscience: 17,550
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  • Site-wide: 76,155

DEFINING CANDIDATE PARKINSONS DISEASE GENES THROUGH THE ANALYSIS OF GENOME-WIDE HOMOZYGOSITY

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