Regina Regan

Biochemistry, Genetics and Molecular Biology · Life Sciences

27h-index11.3kcitations54works0.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(31), Genetics and Neurodevelopmental Disorders(16), Autism Spectrum Disorder Research(12), Chromosomal and Genetic Variations(11), Congenital heart defects research(9)

Publications53 total

Functional impact of global rare copy number variation in autism spectrum disorders
UNC Libraries·2020Open Access
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
UNC Libraries·2020Open Access
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
UNC Libraries·2020Open Access
Demonstration of a Plasmo-Thermomechanical Radiation Detector with Si3N4 Waveguide Optical Readout Circuit
Conference on Lasers and Electro-Optics·2018· 1 cited
Cover Image, Volume 173A, Number 1, January 2017
American Journal of Medical Genetics Part A·2016
Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation
American Journal of Medical Genetics Part A·2016Open Access
A chromosomal 5q31.1 gain involving <i>PITX1</i> causes Liebenberg syndrome
American Journal of Medical Genetics Part A·2014· 7 cited
The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism
Nature Communications·2014· 61 citedOpen Access
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
The American Journal of Human Genetics·2014· 1.0k citedOpen Access
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
Oxford University Research Archive (ORA) (University of Oxford)·2014· 1 citedOpen Access
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis
Human Molecular Genetics·2014· 42 citedOpen Access
HGDP and HapMap Analysis by Ancestry Mapper Reveals Local and Global Population Relationships
PLoS ONE·2012· 14 citedOpen Access
Individual common variants exert weak effects on the risk for autism spectrum disorders
Human Molecular Genetics·2012· 372 citedOpen Access
Identification of a mutation in LARS as a novel cause of infantile hepatopathy
Molecular Genetics and Metabolism·2012· 102 citedOpen Access
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
Human Genetics·2011· 201 citedOpen Access
First implication of<i>STRA6</i>mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the<i>STRA6</i>phenotype
Human Mutation·2011· 78 cited
Genomic Imbalances Are Confined to Non-Proliferating Cells in Paediatric Patients with Acute Myeloid Leukaemia and a Normal or Incomplete Karyotype
PLoS ONE·2011· 4 citedOpen Access
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth
European Journal of Human Genetics·2011· 47 citedOpen Access
A genome-wide scan for common alleles affecting risk for autism
Human Molecular Genetics·2010· 586 citedOpen Access
Functional impact of global rare copy number variation in autism spectrum disorders
Nature·2010· 2.0k citedOpen Access
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Frequent Co-authors

Samantha J.L. Knight(20), Jillian P. Casey(14), Jonathan Flint(12), Judith Conroy(11), Richard Anney(10), Tiago R. Magalhães(10), Catarina Correia(10), Dalila Pinto(9), Elena Bacchelli(9), Anthony Bailey(9), Gillian Baird(9), Nadia Bolshakova(9), Patrick Bolton(9), Thomas Bourgeron(9), Sean Ennis(9), Alistair T. Pagnamenta(8), Lambertus Klei(8), Maretha Jonge(8), Richard Delorme(8), Eftichia Duketis(8)