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Elizabeth A. Heron

Researcher at Trinity College, Dublin

Publications -  35
Citations -  3630

Elizabeth A. Heron is an academic researcher from Trinity College, Dublin. The author has contributed to research in topics: Genome-wide association study & Autism. The author has an hindex of 14, co-authored 28 publications receiving 3376 citations. Previous affiliations of Elizabeth A. Heron include University of Warwick & Queensland University of Technology.

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Functional impact of global rare copy number variation in autism spectrum disorders

Dalila Pinto, +181 more
- 15 Jul 2010 - 
TL;DR: The genome-wide characteristics of rare (<1% frequency) copy number variation in ASD are analysed using dense genotyping arrays to reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
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A genome-wide scan for common alleles affecting risk for autism

Richard Anney, +170 more
TL;DR: In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8 and, consistent with the winner's curse, its effect size in the replication sample was much smaller.
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Individual common variants exert weak effects on the risk for autism spectrum disorders.

Richard Anney, +148 more
TL;DR: Stage 2 of the Autism Genome Project genome-wide association study is reported, adding 1301 ASD families and bringing the total to 2705 families analysed, and it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.
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Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility.

TL;DR: A molecular pathway analysis using the single-nucleotide polymorphism (SNP) ratio test, which compares the ratio of nominally significant to nonsignificant SNPs in a given pathway to identify the ‘enrichment’ for association signals, suggests mechanisms involved in neuronal cell adhesion may contribute broadly to neurodevelopmental psychiatric phenotypes.
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The SNP ratio test

TL;DR: The SNP ratio test (SRT) compares the proportion of significant to all SNPs within genes that are part of a pathway and computes an empirical P-value based on comparisons to ratios in datasets where the assignment of case/control status has been randomized.