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Regina Regan

Researcher at University College Dublin

Publications -  40
Citations -  10418

Regina Regan is an academic researcher from University College Dublin. The author has contributed to research in topics: Genome-wide association study & Autism. The author has an hindex of 27, co-authored 40 publications receiving 9644 citations. Previous affiliations of Regina Regan include Wellcome Trust Centre for Human Genetics & John Radcliffe Hospital.

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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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Analysis of shared heritability in common disorders of the brain

Verneri Anttila, +720 more
- 22 Jun 2018 - 
TL;DR: It is demonstrated that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine, and it is shown that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures.
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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

Dalila Pinto, +131 more
- 01 May 2014 - 
TL;DR: For example, the authors analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability.
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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C Mefford, +85 more
- 16 Oct 2008 - 
TL;DR: Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.
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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Andrew J. Sharp, +20 more
- 13 Aug 2006 - 
TL;DR: Using oligonucleotide arrays, the breakpoints of this microdeletion were refined, defining a 478-kb critical region containing six genes that were deleted in all four individuals, and it was found that these breakpoint regions are sites of copy number polymorphism in controls, indicating that these may be inherently unstable genomic regions.