1. Human genome meeting 2016. Issue 1 (June 2016) Authors: Srivastava, A.; Wang, Y.; Huang, R.; Skinner, C.; Thompson, T.; Pollard, L.; Wood, T.; Luo, F.; Stevenson, R.; Polimanti, R.; Gelernter, J.; Lin, X.; Lim, I.; Wu, Y.; Teh, A.; Chen, L.; Aris, I.; Soh, S.; Tint, M.; MacIsaac, J. Journal: Human genomics Issue: Volume 10:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Issue 1 (December 2016) Authors: Eldomery, Mohammad; Akdemir, Zeynep; Vögtle, F.-Nora; Charng, Wu-Lin; Mulica, Patrycja; Rosenfeld, Jill; Gambin, Tomasz; Gu, Shen; Burrage, Lindsay; Al Shamsi, Aisha; Penney, Samantha; Jhangiani, Shalini; Zimmerman, Holly; Muzny, Donna; Wang, Xia; Tang, Jia; Medikonda, Ravi; Ramachandran, Prasann... 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) ↗
3. 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) ↗