Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.

@article{Griswold2012EvaluationOC,
  title={Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.},
  author={Anthony J. Griswold and Deqiong Ma and Holly N. Cukier and Laura D. Nations and Michael A. Schmidt and Ren-Hua Chung and James M. Jaworski and Daria Salyakina and Ioanna Konidari and Patrice L. Whitehead and Harry H. Wright and Ruth K. Abramson and Scott M. Williams and Ramkumar Menon and Eden R. Martin and Jonathan L. Haines and John R. Gilbert and Michael L. Cuccaro and Margaret A. Pericak-Vance},
  journal={Human molecular genetics},
  year={2012},
  volume={21 15},
  pages={3513-23}
}
Autism spectrum disorders (ASDs) are highly heritable, yet relatively few associated genetic loci have been replicated. Copy number variations (CNVs) have been implicated in autism; however, the majority of loci contribute to <1% of the disease population. Therefore, independent studies are important to refine associated CNV regions and discover novel susceptibility genes. In this study, a genome-wide SNP array was utilized for CNV detection by two distinct algorithms in a European ancestry… CONTINUE READING
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Autism Genome Project

  • P. Szatmari, A. D. Paterson, +6 authors A. P Thompson
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