Copy Number Variation Analysis in Single-Suture Craniosynostosis: Multiple Rare Variants Including RUNX2 Duplication in Two Cousins With Metopic Craniosynostosis

by Mefford, Heather C, Shafer, Neil, Antonacci, Francesca, Tsai, Jesse M, Park, Sarah S, Hing, Anne V, Rieder, Mark J, Smyth, Matthew D, Speltz, Matthew L, Eichler, Evan E, Cunningham, Michael L
Published 2010

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

by Girirajan, Santhosh, Brkanac, Zoran, Coe, Bradley P., Baker, Carl, Vives, Laura, Vu, Tiffany H., Shafer, Neil, Bernier, Raphael, Ferrero, Giovanni B., Silengo, Margherita, Warren, Stephen T., Moreno, Carlos S., Fichera, Marco, Romano, Corrado, Raskind, Wendy H., Eichler, Evan E.
Published 2011