Publication
Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder
Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld, Bregje W.M. van Bon, Yiping Shen, Elena A. Repnikova, Julie Gastier-Foster, Devon Lamb Thrush, Sekar Kathiresan, Douglas M. Ruderfer, Colby Chiang, Carrie Hanscom, Carl Ernst, Amelia M. Lindgren, Cynthia C. Morton, Yu An, Caroline Astbury, Louise A. Brueton, Klaske D. Lichtenbelt, Lesley C. Ades, Marco Fichera, Corrado Romano, Jeffrey W. Innis, Charles A. Williams, Dennis Bartholomew, Margot I. Van Allen, Aditi Parikh, Lilei Zhang, Bai-Lin Wu, Robert E. Pyatt, Stuart Schwartz, Lisa G. Shaffer, Bert B.A. de Vries, James F. Gusella, Sarah H. Elsea
The American Journal of Human Genetics, October 2011, Elsevier
DOI: 10.1016/j.ajhg.2011.09.011