Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. (clinicallab.org)
Saturday, Oct. 22, 11:15 - 11:30 am, Room 302, West Building Platform Presentation: Identification of recurrent copy number variants associated with developmental brain disorders from whole exome sequencing of 47,859 participants in the DiscovEHR study A.E. Hare - Harris, Geisinger Health System, et al (ashg.org)
Srivastava S, Cohen JS, Vernon H, Baranano K, McClellan R, Jamal L, Naidu S. and Fatemi A; Clinical whole exome sequencing in child neurology practice. (bioethicsinstitute.org)