1. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Issue 1 (December 2016) Authors: Loviglio, Maria; Beck, Christine; White, Janson; Leleu, Marion; Harel, Tamar; Guex, Nicolas; Niknejad, Anne; Bi, Weimin; Chen, Edward; Crespo, Isaac; Yan, Jiong; Charng, Wu-Lin; Gu, Shen; Fang, Ping; Coban-Akdemir, Zeynep; Shaw, Chad; Jhangiani, Shalini; Muzny, Donna; Gibbs, Richard; Rougemont, J... Journal: Genome medicine Issue: Volume 8:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. POGZ truncating alleles cause syndromic intellectual disability. Issue 1 (December 2016) Authors: White, Janson; Beck, Christine; Harel, Tamar; Posey, Jennifer; Jhangiani, Shalini; Tang, Sha; Farwell, Kelly; Powis, Zöe; Mendelsohn, Nancy; Baker, Janice; Pollack, Lynda; Mason, Kati; Wierenga, Klaas; Arrington, Daniel; Hall, Melissa; Psychogios, Apostolos; Fairbrother, Laura; Walkiewicz, Magdal... Journal: Genome medicine Issue: Volume 8:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗