1. Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. Issue 9 (3rd December 2008) Authors: Yan, J; Zhang, F; Brundage, E; Scheuerle, A; Lanpher, B; Erickson, R P; Powis, Z; Robinson, H B; Trapane, P L; Stachiw-Hietpas, D; Keppler-Noreuil, K M; Lalani, S R; Sahoo, T; Chinault, A C; Patel, A; Cheung, S W; Lupski, J R Journal: Journal of medical genetics Issue: Volume 46:Issue 9(2009) Page Start: 626 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. Issue 6 (15th March 2009) Authors: Ben-Shachar, S; Lanpher, B; German, J R; Qasaymeh, M; Potocki, L; Nagamani, S C Sreenath; Franco, L M; Malphrus, A; Bottenfield, G W; Spence, J E; Amato, S; Rousseau, J A; Moghaddam, B; Skinner, C; Skinner, S A; Bernes, S; Armstrong, N; Shinawi, M; Stankiewicz, P; Patel, A Journal: Journal of medical genetics Issue: Volume 46:Issue 6(2009) Page Start: 382 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗