Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Andrew J. Sharp, Sierra Hansen, Rebecca R. Selzer, Ze Cheng, Regina Regan, Jane A. Hurst, Helen Stewart, Sue M. Price, Edward Blair, Raoul C. Hennekam, Carrie A. Fitzpatrick, Rick Segraves, Todd A. Richmond, Cheryl Guiver, Donna G. Albertson, Daniel Pinkel, Peggy S. Eis, Stuart Schwartz, Samantha J.L. Knight, Evan E. Eichler

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Biochemistry, Genetics and Molecular Biology