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Girirajan S, Brkanac Z, Coe BP, et al. (2011) Relative burden of large CNVs on a range of neurodevelopmental phenotypes. Plos Genetics. 7: e1002334 |
Mefford HC, Shafer N, Antonacci F, et al. (2010) Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. American Journal of Medical Genetics. Part A. 152: 2203-10 |
Mefford HC, Cooper GM, Zerr T, et al. (2009) A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Research. 19: 1579-85 |