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Edward C. Frackelton

Researcher at Children's Hospital of Philadelphia

Publications -  49
Citations -  9721

Edward C. Frackelton is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: Genome-wide association study & Single-nucleotide polymorphism. The author has an hindex of 39, co-authored 49 publications receiving 9166 citations. Previous affiliations of Edward C. Frackelton include University of Pennsylvania.

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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

TL;DR: Several new susceptibility genes encoding neuronal cell-adhesion molecules, including NLGN1 and ASTN2, were enriched with CNVs in ASD cases compared to controls, and duplications 55 kilobases upstream of complementary DNA AK123120 indicate that these two important gene networks expressed within the central nervous system may contribute to the genetic susceptibility of ASD.
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Common genetic variants on 5p14.1 associate with autism spectrum disorders

TL;DR: The results implicate neuronal cell-adhesion molecules in the pathogenesis of ASDs, and represent, to the authors' knowledge, the first demonstration of genome-wide significant association of common variants with susceptibility to ASDs.
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Common variants at five new loci associated with early-onset inflammatory bowel disease.

TL;DR: The results of a genome-wide association study in early-onset IBD involving 3,426 affected individuals and 11,963 genetically matched controls recruited through international collaborations in Europe and North America are reported, thereby extending the results from a previous study of 1,011 individuals with early-onset IBD.
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Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies

Brendan J. Keating, +66 more
- 31 Oct 2008 - 
TL;DR: A gene-centric 50 K single nucleotide polymorphism (SNP) array to assess potentially relevant loci across a range of cardiovascular, metabolic and inflammatory syndromes and it is demonstrated that the IBC array can be used to complement GWAS, increasing coverage in high priority CVD-related lociAcross all major HapMap populations.